Cape Biology Unit 1

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CAPE Biology Unit 1 Complete

Intro Biology 2 (Northeastern State University)

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CAPE BIOLOGY
UNIT ONE MANUAL
(by Sperwin Zinger)

MODULE ONE – CELL AND MOLECULAR BIOLOGY

THIS MODULE CONTAINS FOUR TOPICS:

1. ASPECTS OF BIOCHEMISTRY
2. CELL STRUCTURE
3. MEMBRANE STRUCTURE AND FUNCTION
4. ENZYMES

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TOPIC 1: ASPECTS OF BIOCHEMISTRY

1.1: Discuss how the structure and properties of water relate to the role that water plays as a medium of
life.

Your body is comprised of numerous elements, form hormones) and fats (used for as an energy
which make also combine to form molecules. store).
These include macronutrients such as
carbohydrates (such as starch and glucose, However, the molecule that comprises the
required for release of ATP), proteins (which are majority of the human body (more than 70% of a
used for growth and repair of cells and also to cell‟s mass) is WATER.

Why are water molecules attracted to each other?

First, observe the molecular structure of water. Water consists of two hydrogen atoms COVALENTLY
bonded to one oxygen atom. This means that electrons are shared between them.

On the diagram, you will observe the symbol δ


(delta), and a symbol for +ve or –ve charge. In
this case, the OXYGEN has the negative charge
and the HYDROGEN atoms have the positive
charge.

Water itself is electrically balanced or


NEUTRAL. However, there is uneven
distribution of these charges in the structure.
This is called a DIPOLE. This allows weak
electrical attraction between the water
molecules, which results in COHESION and the
ability to undego MASS FLOW. They also
result in HYDROGEN BONDS, which are
essential for many biological molecules.

Property of Water What Allows This

Temp. regulation Its high specific heat capacity and ability to evaporate easily.

„Universal‟ solvent Its tiny charges attract other molecules or ions to form bonds.

Allows mass flow Its H-bonds produce cohesion and surface tension. Suitable for excretion.

Assists buffers Its neutral pH allows H ions or OH ions to be absorbed by proteins.

Reactivity Used in hydrolysis reactions during digestion and in photosynthesis.

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1.2/3: Explain the relationship between the structure and function of glucose and sucrose.

What exactly are CARBOHYDRATES?

Carbohydrates are organic molecules that comprise a ratio of carbon, hydrogen and oxygen. They are
comprised of at least one sugar unit. However, they can be linked together to form increasingly complex
molecules.

Type of carbohydrate Number of units Examples

MONOSACCHARIDE One Glucose, fructose, ribose, galactose, glyceraldehyde

DISACCHARIDE Two Maltose, sucrose, lactose

POLYSACCHARIDE More than two Starch, glycogen, cellulose, chitin

MONOSACCHARIDES are the simplest A pentose such as ribose has a value of „5‟ and
carbohydrate and cannot be further hydrolysed. is written as C5H10O5. However, modifications
They are written with the general formula occur, such as deoxyribose having one less
(CH2O)n. The „n‟ depends on the type of sugar. oxygen atom, so deoxyribose is written as
For example, a hexose sugar (e.g. glucose) has a C5H10O4
value of „6‟, so glucose is written as C6H12O6.

As previously mentioned, glucose is a HEXOSE, which means it has a six-membered ring consisting of
five carbons and one oxygen. Observe the straight-chain and ring structures of glucose below.

NOTE:
Beta-
glucose’s
ring
structure
is similar
but H and
OH are
swapped
on C-1.

It can be observed that the 6th carbon atom in the ring structure does not exist as part of the ring structure.
As a result of this, glucose tends to alternate between its ring and its chain form. This is why there are two
different types of glucose (alpha and beta).

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How are DISACCHARIDES formed then?

As previously mentioned, a DISACCHARIDE forms when two monosaccharide molecules are bonded.
When this linkage occurs, it is known as a GLYCOSIDIC bond. These types of bonds are very strong.
One common example of a disaccharide is SUCROSE, which we commonly know as the sugar that is
sweet (such as in sugar cane).

So, what two monosaccharides combine to form sucrose? That would be an ALPHA GLUCOSE and a
BETA FRUCTOSE. What is notable about sucrose is that when it undergoes enzyme breakdown, sucrose
yields two glucose molecules. However, one of those molecules has been reformed from fructose.

Here are their ring structures:

Carbon-1 of the alpha glucose will now bond with the Carbon-2 of beta-fructose. This is thus called a 1-2
glycosidic bond. A CONDENSATION reaction removes a water molecule in the process.

Now observe the structure of SUCROSE:

Sucrose is used for


transport instead of
glucose because it is
much more complex,
more energy-efficient
and not as reactive as
glucose.

What is the difference between a REDUCING and NON-REDUCING sugar?

In O‟ levels you would‟ve learned that Benedict‟s solution can be used to test for reducing sugar.
However, the addition of HYDROCHLORIC ACID and then SODIUM HYDROXIDE was needed for
non-reducing sugars.

This is because disaccharides such as sucrose have a glycosidic bond that prevents Benedict‟s reageant
from reacting with it. The HCl is needed to break that glycosidic bond and the NaOH is needed to
neutralize the HCl.

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1.4: Discuss how the molecular structure of starch, glycogen and cellulose relate to their functions in
living organisms.

NOW WHAT ABOUT POLYSACCHARIDES?

A polysaccharide can contain thousands of sugar molecules and can be quite large and complex. As a
result, they are insoluble. Not all of them are arranged in long chains, however. Some of them form
compact spirals. Polysaccharide nutrients such as starch must be hydrolysed before they can be absorbed
through the small intestine and into the bloodstream.

We‟ll be looking at three main polysaccharides:

Polysaccharide Function Miscellaneous short notes

STARCH Energy reserve in plants A mixture of two polymers, AMYLOSE and


after photosynthesis. AMYLOPECTIN. Stored in PLASTIDS, which form grains.
Never found in animal cells. Digested by AMYLASE.

GLYCOGEN Energy reserve in Easier to break down into glucose. Usually found in the
animals. LIVER and in MUSCLES.

CELLULOSE Found in cell walls. Always has a straight structure. Very strong due to thousands
Used for structural of hydrogen bonds. Large bundles of them are called
support. FIBRES. Difficult for animals to digest.

Now let’s be more specific about these molecules:

 Amylose forms a spiral from many α-glucose molecules. It is


held together by H-bonds that form between –OH groups
attached to C-1 of each unit.

 Glycogen is also made of many α-glucose molecules and are


linked through α 1-4 glycosidic bonds with α 1-6 branches.

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 Cellulose is also made up of thousands of β- glucose molecules. Cellulose molecules form a straight
structure instead of a spiral or branches. As said, their bonds are extremely strong due to the multitude of
hydrogen linkages. The type of bonds in cellulose are β 1-4 glycosidic bonds between the glucose
molecules. This is what it makes it INSOLUBLE and sturdy to provide structural support in cell walls.

The ring structure combines many different glucoses. However, each alternating glucose molecule is
INVERTED. Observe the structure below. Notice how each successive one is ‘flipped’.

The table below will provide a summary of all of this complex information.

Feature Amylose Glycogen Cellulose

Sugar unit α-glucose α-glucose β-glucose

Overall shape Linear and spiral Linear, spiral, branches Only linear

Solubility in water Insoluble or very low Insoluble or very low Insoluble

Glycosidic bond type α 1-4 α 1-4 and α 1-6 β 1-4

H-bonds Within Within Within and between

Location Starch grains, plastids Animal liver cells Cell walls

REMINDERS ABOUT BREAKING AND FORMING BONDS

 Breaking a covalent bond is called a HYDROLYSIS REACTION, while formation of the bond is
called a CONDENSATION REACTION.

 Hydrolysis reactions use a water molecule during the breakdown of polymers into monomers.
Condensation reactions release a molecule during the formation of a bond. If that molecule is
water, this is known as a DEHYDRATION reaction.

 Examples of dehydration reactions include the formation of SUCROSE (from glucose & fructose)
and the formation of a DIPEPTIDE molecule from two amino acids.

 Hydrogen bonds form between water molecules. HYDROXYL groups (-OH) form hydrogen
bonds because hydrogen is slightly +ve and oxygen is slightly –ve. Dipole or polar molecules are
hydrophilic while non-polar molecules (without dipoles) are hydrophobic.

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1.5: Describe the molecular structure of a triglyceride and its role as a source of energy.

WHAT ARE LIPIDS AND TRIGLYCERIDES?

Lipids have a similar chemical structure to carbohydrates. The main difference is that they contain a
much higher proportion of HYDROGEN. They also tend to be insoluble in water. The main lipids that
you would have previously learned of are fats and oils, which are used as energy reserves in the body and
also used to provide insulation for organs.

Fats are broken down by the enzyme LIPASE A TRIGLYCERIDE is comprised of three fatty
(secreted by the pancreas). This results in the acids attached to a glycerol molecule. They are
formation of FATTY ACIDS AND insoluble in water and are HYDROPHOBIC,
GLYCEROL. These fatty acids can be classified meaning that they are not attracted to water. The
as either saturated or unsaturated (more on fatty acids contain a –COOH, which is called a
this later). CARBOXYL group. These carboxyl groups
react with the –OH groups of glycerol. This
forms a very strong covalent bond called an
ESTER BOND.

Thus, think of the glycerol as the „backbone‟ of the triglyceride structure. Observe the detailed structure
of a glycerol molecule and a triglyceride below:

You should also get familiar with how it is represented in simpler diagrams:

In triglycerides,
all the C atoms
are bonded to H,
which makes it a
yield more energy
upon breakdown
than carbs.

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SO WHICH FATS ARE „BAD‟?

Triglycerides are an energy reserve and are stored in tissues in humans called ADIPOSE tissue.
Accumulation of excess adipose tissue will eventually lead to OBESITY. Studies of fat are constantly
yielding new information and show that fats act almost like endocrine organs, affecting hormonal
secretion and metabolism.

The cells shown are called ADIPOCYTES.


„White fat‟ cells have a much higher
concentration of triglycerides than „brown fat‟
cells.

Brown fat cells tend to have a high concentration


of mitochondria, which regularly „burn‟ off the
energy reserves.

As previously stated, fatty acids are typically classified into two types: saturated and unsaturated. What
is the main difference between these two?

 A SATURATED fat molecule has its  An UNSATURATED fat molecule has


last carbon atom bonded to three at least one carbon atom double-bonded
hydrogens. Thus, it has been „saturated‟ to another, reducing the amount of
with hydrogen. hydrogen that is holds.

This is usually referred to as the „bad‟ Observe below to see that it causes a
fat, as it forms a dense structure that can slight bend in the linear structure.
contribute to the build-up of LDL (low- Imagine that this bend prevents the fat
density lipoprotein) cholesterol, leading from packing too tightly and
to coronary heart disease. contributing to arterial plaque build-up.

EXTRA NOTE: Another type of „bad‟ fat is called TRANS fat. Trans fats are formed when oils are
artificially made semi-solid during artificial hydrogenation. Hydrogenation involves the insertion of gases
through oils to solidify them. This affects the bonding linkages. Examples of such foods that have contained
trans fats in the past are margarine and shortening, and certain fast foods. They have since been banned.

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1.6: Describe the structure of phospholipids and their role in membrane structure and function.

WHAT IS A PHOSPHOLIPID?

Observe the diagram shown. It shows a acid‟ tails are HYDROPHOBIC. If you recall,
phospholipid bilayer (which forms the plasma hydrophobic means they are not attracted to
membrane). Imagine a triglyceride where one of water molecules. Hydrophilic means they are
its fatty acids has been replaced by a attracted. So in water, they form this „bilayer‟
PHOSPHATE group. structure. Without this structure, cells would not
be able to keep their organelles together.
On the diagram, you‟ll notice that the phosphate
„heads‟ are HYDROPHILIC while the „fatty

NOTE: The reason the „head‟ is attracted is because it has a


negative charge. This is attracted to the positive charge of the
H atoms on the water molecule. The „head‟ is water-soluble.

1.7: Describe the generalised structure of an amino acid, & the formation & breakage of a peptide bond.

WHAT ARE PROTEINS AND AMINO ACIDS?

You will recall from O‟ Level Biology that proteins are mainly used for cellular growth and repair in the
body. They also form a entire roster of other molecules in the body, including enzymes and hormones. An
amino acid is a single unit and many of these combine to form a protein, just like with monosaccharides
and polysaccharides.

1. An AMINO group (-NH2)


2. A CARBOXYL group (-COOH)
3. A HYDROGEN (H) atom.
4. Another group or chain of amino acids,
which is represented as „R‟.

Amino acids can bond with each other during


condensation reactions. The linkages formed are
very strong covalent bonds called PEPTIDE
BONDS.
Observe the structure. There is a central carbon
atom connected to FOUR other groups. These When this occurs, a H atom joins with an –OH
include: to form a water molecule.

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WHAT IS A POLYPEPTIDE?

Protein synthesis occurs in the RIBOSOMES of The chains can be non-linear in shape. For
the cells. As previously said, condensation example, HAEMOGLOBIN (found in the red
reactions occur when amino acids are bonded, blood cells) has four polypeptides connected in a
which produce water molecules. coiled structure.

When many of these amino acids are linked by When polypeptide chains are broken, a water
peptide bonds, the chain itself is called a molecule is consumed during a hydrolysis
POLYPEPTIDE. These polypeptide chains reaction. An example of this would be when
eventually come together to form structures of PEPSIN digests proteins in the stomach.
protein.

Observe the linkage between two amino acids to form a dipeptide molecule:

It can be seen that the


PEPTIDE BOND forms
between the C and N after
the dehydration reaction.

WHAT ARE SOME EXAMPLES OF AMINO ACIDS?

There are 20 amino acids. They may be hydrophilic or hydrophobic. Only the ones with side chains („R‟
groups) that contain ring structures are hydrophobic. Here are a few examples of amino acids.

- Serine – Used in the synthesis of components in the brain cell membranes and neurones.
- Leucine – Involved in increasing lean muscle mass.
- Valine – High levels are associated with insulin resistance and diabetes.
- Tryptophan – Converts to serotonin, which affects mood and sleep
- Aspartic acid – Contributes to the formation of urea.

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1.8: Explain the meaning of terms: primary, secondary, tertiary and quaternary structures of proteins.

HOW ARE PROTEINS ARRANGED?

Recall that proteins are comprised of amino acid units which form polypeptide chains. The way in which
these are sequenced can occur in multiple levels of increasing complexity in proteins, resulting in what
are known as the primary, secondary, tertiary and quaternary structures.

Structure Diagram Notes

Primary - A sequence of a chain of amino acids.


- Determined by a gene.
- The sequence of amino acids on the chain
determines the type of protein.

Secondary - Occurs when the amino acid sequences are


linked by weak hydrogen bonds.
- The bond occurs between an O in the –CO
group and the H of the –NH2 group.
- Can be α helix or β pleated sheet.

Tertiary - Occurs when multiple secondary structures


fold together.
- Four types of bonds involved: Hydrogen,
Disulphide, Ionic and Hydrophobic Interaction.
- May have separate PROSTHETIC groups
attached to it such as haem in HAEMOGLOBIN
- Also forms the structures of ENZYMES.

Quaternary - The highest level of complexity for proteins.


- The example depicted is haemoglobin, which
consists of numerous secondary and tertiary
structures, as well as FOUR HAEM groups.
- The role of haemoglobin is to transport oxygen.
When the oxygen binds to a haem group, uptake
is made easier by the other three.*
- Haemoglobin is a GLOBULAR protein, as
opposed to COLLAGEN which is a FIBROUS
protein.

* Haemoglobin’s structure will change any time an O2 molecule is bound to the haem group.
The results in what is called a conformational change and protein ‘folds’, allowing quicker
binding of each successive O2 molecule. This is referred to as positive cooperativity.

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HOW ARE PROTEINS BONDED?

There are four main types of bonds that help form the linkages that hold protein molecules in shape.

Name of Bond Strength of Can be broken by… How It Occurs


Bond

Hydrogen Weak. High temperatures and Slightly negative and positive


changes in pH. molecules become attracted (e.g.
H and O)

Ionic Strong. Changes in pH. Forms between R groups that


have full positive and negative
charges.

Disulphide Strong and Reducing agents. Forms between the R groups of


covalent. cysteine, an amino acid.

Hydrophobic Very weak. Not considered a bond. But Forms between R groups which
Interaction can denature in high heat. contain only C and H atoms.

1.9: Outline the molecular structure of collagen, as an example of a fibrous protein;

WHAT IS COLLAGEN? HOW IS IT DIFFERENT FROM GLOBULAR PROTEINS?

Collagen is a protein found in our bodies that is mainly used for STRUCTURAL SUPPORT. It can be
found in areas such as cartilage, bones and tendons. Due to its structural role, its insolubility in water and
its repeating sequences, it is referred to as a FIBROUS protein. This contrasts with GLOBULAR proteins,
such as haemoglobin, antibodies and enzymes, which partake in chemical reactions, are often soluble in
water and the primary structures usually have specific shapes instead of repeated sequences.

As can be seen in the molecular structure, it


consists of THREE polypeptide chains. These
form three helical strands, which intertwine and
are held together by HYDROGEN bonds.

These collagen molecules form cross-links and


form FIBRILS, which form bundles known as
FIBRES.

The following are some roles of globular and fibrous proteins:


- Enzymes (globular) – Lowers activation energy to catalyze certain chemical reactions.
- Keratin (fibrous) – Forms protective layers and filaments, such as in hair and nails.
- Insulin (globular) – Converts glucose to glycogen for storage in the cell.
- Elastin (fibrous) – Allows elasticity to organs such as the lungs and bladder.

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1.10: Carry out tests for reducing and nonreducing sugars, starch, lipids and proteins.

TEST FOR REDUCING AND NON-REDUCING SUGARS

Examples of reducing sugars include


GLUCOSE, MALTOSE and FRUCTOSE, while
an example of a non-reducing sugar is
SUCROSE. The solution needed to test for both
of these is called BENEDICT‟S SOLUTION, a
blue liquid that contains copper (II) sulphate.

Upon heating, Cu2+ is reduced to Cu+ and forms


copper (I) oxide in the presence of reducing
sugar, which forms a BRICK RED precipitate.
Trace amounts of sugars results in a GREEN
colour.

FOR NON-REDUCING SUGARS: Recall that sucrose has a GLYCOSIDIC bond. To break this bond,
heat the solution with dilute HCl and then neutralize with SODIUM HYDROXIDE. This will yield
GLUCOSE and FRUCTOSE from the sucrose.

TEST FOR STARCH TEST FOR PROTEINS

Starch is a polysaccharide that is comprised of Proteins have linkages called PEPTIDE bonds
amylose and amylopectin. The test for starch (between the C and N of adjacent amino acids).
presence involves the addition of IODINE BIURET reagent is used to test for proteins,
SOLUTION IN POTASSIUM IODIDE (KI/I2). which contains copper (II) sulphate and
The iodine is able to bind to the helical structure potassium hydroxide.
of amylose and produce the BLUE-BLACK
colour. When BIURET reagent is added, the copper ions
produce a PURPLE colour.

EMULSION TEST FOR LIPIDS

Recall that lipids are hydrophobic and are thus


INSOLUBLE in water. To test for the presence
of lipids, ETHANOL is first poured into the
sample. The lipid molecules will dissolve in the
ethanol. WATER is then added.

The hydrophobic lipid molecules begin to


disassociate from the solution and form an
opaque milky white layer of droplets that float to
the top called an EMULSION.

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TOPIC 2: CELL STRUCTURE

2.1 and 2.2: Make drawings of typical animal and plant cells as seen under the light microscope and
describe and interpret drawings and electron micrographs of cells;

DIFFERENCES BETWEEN LIGHT AND ELECTRON MICROSCOPES

Characteristic Light Microscope Electron Microscope

Max. Magnification x 1400 x 300,000

Type of lens used Glass Electromagnets

Type of radiation used Visible light Electron beams

Colour Image will appear in colour. Image will be in black and white.

Preparation of specimen Living cells and tissues are used. Non- Only non-living and dehydrated
living tissues may be used if they are cells are used. They are cut very
mounted on a slide in a transparent liquid. thinly and placed in a vacuum.

Staining of specimen Cells absorb many different coloured Cells and organelles absorb
stains. heavy metals.

Viewing of specimen By eye or projection on a screen. Electrons fall onto a fluorescent


screen.

Main advantages - Much more affordable than electron - Much higher resolution
microscopes.
- Much higher magnification
- Slides can last for a very long time.
- Little risk of distortion while viewing.

Main disadvantages - Much lower resolution - Expensive, requires expertise


- Much lower magnification - Specimen deteriorates during
viewing (unlike slides)
- High risk of distortion

Two types of electron microscopes:


1. SEM (Scanning Electron Microscope)
2. TEM (Transmission Electron Microscope)
SEM usually observes the surface of an specimen
while TEM is used to observe a very thinly cut
section of specimen, supported on grids.

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PHOTOMICROGRAPH AND ULTRASTRUCTURE OF CELLS

Recall that light microscopes have a much lower resolution and magnification than electron microscopes.
Photomicrographs therefore are unable to clearly show all of the organelles present in the structures of the
animal and plant cells. When an electron microscope is used to view the structure, the visible image is
called an ULTRASTRUCTURE.

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2.4. Compare the structure of typical animal and plant cells;

TABLE SHOWING DIFFERENCES BETWEEN ANIMAL AND PLANT CELLS

Organelle or Structure Animal Cells Plant Cells

Chloroplasts Chloroplasts and any plastids are absent. Present in photosynthetic cells.

Cell wall and Cell wall and plasmodesmata are absent. Present in cells, usually containing
plasmodesmata cellulose, pectin or lignin.

Vacuole Small, temporary vacuoles. Large, permanent vacuoles


surrounded by tonoplast.

Centrioles Usually present. Centrioles are absent.

Waste removal Digestion by lysosomes. Vacuoles move to plasma membrane

Sugar storage Stored in glycogen granules. Starch grains (in amyloplasts)

Cilia and flagella Present in some (e.g. sperm, respiratory Mostly absent.
epithelium)

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2.3. Outline the functions of membrane systems and organelles.

Organelle or Diagrams Notes


Structure

Nucleus - The nucleus contains long


molecules of DNA called
CHROMOSOMES, which is made
up of threads called CHROMATIN.
- The nucleus is surrounded by a
pair of membranes known as
NUCLEAR ENVELOPE.
- The nuclear envelope has tiny
openings called NUCLEAR
PORES, which allow movement of
ATP and RNA.
- The NUCLEOLUS contains
ribosomal RNA or rRNA, which
helps with PROTEIN SYNTHESIS.
- Two types of cells that don‟t have
nuclei are RED BLOOD CELLS
and PHLOEM SIEVE TUBES.

Mitochondrion - Mitochondria are the site of


AEROBIC RESPIRATION in both
plant and animal cells.
- This mostly occurs in the tiny
folds of the inner membrane called
the CRISTAE.
- Several chemical reactions also
occur in the MATRIX.

Chloroplast - Chloroplasts are sites of


PHOTOSYNTHESIS.
- It has a double membrane, like
mitochondria.
- Sacs called THYLAKOIDS
contain chlorophyll necessary for
the light-dependent reactions, while
light-independent reactions occur in
the STROMA.
- Stacks of thylakoids are GRANA.

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Cell wall and - Cell walls are comprised of very


plasmodesmata strong cellulose fibres. These give it
structural support.
- The cell wall can withstand strong
forces and internal pressures, so a
cell will not burst if too much water
is taken in.
- Plasmodesmata are tiny pores or
passages that lead from one cell to
another.
- The middle lamella lies between
both cells. Pectin holds the cells
together at this point.

Plasma We previously learned of a


membrane PHOSPHOLIPID BILAYER,
shown in the diagram. All plasma
(cell surface
membranes have this structure.
membrane)
They are sometimes lain with
protein structures and channels that
allow transport processes such as
diffusion and active transport to
occur.

Endoplasmic - The rough ER (RER) has


reticulum ribosomes attached to it, while the
smooth ER (SER) doesn‟t.
- Ribosomes and the RER are the
sites of PROTEIN SYNTHESIS.
- Ribosomes form inside enclosed
spaces in the membrane called
CISTERNAE.
- SER occupies various roles, such
as breaking down toxins or
producing lipids.

Lysosomes - Lysosomes contain digestive


enzymes that are mainly used to
break down large molecules into
soluble substances that would get
absorbed by the cytoplasm.
- They may also break down
denatured organelles.

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Centrioles - Centrioles are only found in


animal cells. They produce
filaments known as
MICROTUBULES, which then
form a SPINDLE.
- This helps pull chromosomes to
the polar ends of the cell during cell
division.
- These are only found in animal
cells.

Golgi body - The Golgi body receives vesicles


and vesicles containing proteins from the ER.
- It „processes‟ these proteins by
modifying them (such as by adding
sugar) and packages these proteins
and transports them through other
vesicles.
- The vesicles transport materials to
the plasma membrane and then
outside the cell. This is called
EXOCYTOSIS.
- They also produce lysosomes.
- They are not a fixed shape.

You also have to be able to look at electron


micrographs and label the organelles on the
ultrastructure. The arrangement of these will
vary in specialized cells. Look at this mouse‟s
hepatocyte (liver cell). It is very dense with
membranes from the ER and has many secretory
vesicles and lysosomes.

The reason for this being that the liver must


form a highly active transport network for
proteins, lipids and sugars. They must also break
down many toxins, such as alcohol.

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2.5. Describe the structure of a prokaryotic cell. Compare their structure with eukaryotic cells.

WHAT IS A PROKARYOTIC CELL?

Prokaryotes (which means “before the nucleus”)


are organisms that have DNA but in a circular or
freely dispersed form not present in a nucleus.
They form their own kingdom and includes
organisms such as BACTERIA and ARCHAEA.

Eukaryotes (which means “true nucleus”) have a


nucleus and so also have a nuclear envelope and
nucleolus. They also have membrane-bound
organelles such as MITOCHONDRIA and
CHLOROPLASTS. They belong to more
complex organisms such as animals, plants and
protists. So far, we‟ve mainly been looking at
eukaryotic cells.

WHAT ARE THE DIFFERENCES BETWEEN PROKARYOTIC AND EUKARYOTIC CELLS?

Feature Prokaryotic Cell Eukaryotic Cell The “S” refers to


Svedberg unit,
Genetic material No nucleus but contains Has a nucleus and all internal which is a measure
plasmids (circular DNA) and a structures. DNA in long strands, of how fast a
nucleoid region of connected to histones.
particle settles in a
protoplasmic DNA.
solution.

Protein synthesis Small, 70S ribosomes Larger, 80S ribosomes

Membrane-bound Mitochondria, chloroplasts, These same structures are Though prokaryotes


organelles Golgi body and ER are all usually present. Chloroplasts do not have
absent. only in plants. chromosomes,
scientists still refer
Cell wall Made of peptidoglycan (e.g. Made of cellulose (in plants) to bacterial DNA as
bacteria).
chromosomes.
Flagella Present in many cells (e.g. E. Present in a few, such as sperm
coli bacteria). cells or some protists.

Photosynthetic Contains infolds in the plasma Contains chloroplasts, which


structures membrane for chlorophyll contain chlorophyll.
attachment.

Size Usually between 5-10 µm. As large as 100 µm.

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2.6. Outline the basis of the endosymbiosis development of eukaryotic cells.

WHAT IS THE ORIGIN OF LIFE (ENDOSYMBIONT THEORY)?

As previously noted, the word “prokaryote” means “before the nucleus” and are thus this type of
organism is ancient (approximately 3.5 billion years). It was also previously noted that prokaryotes do not
have membrane-bound organelles such as MITOCHONDRIA and CHLOROPLASTS. It was believed a
very long time ago that three main types of cells existed:

1. A prokaryote/eukaryote with a very large globular structure.


2. A prokaryote that could absorb solar energy to produce sugars.
3. A prokaryote that could use oxygen to produce energy.

It is now thought that the latter two organisms were absorbed by the first, thus giving rise to a new type of
cell that would be able to carry out the processes of PHOTOSYNTHESIS and RESPIRATION. They
were called ENDOSYMBIONTS, which eventually gave rise to other types of organelles and specialized
cells, which led to the rise of many different organisms as time passed.

WHAT IS THE EVIDENCE FOR THIS?

1. Mitochondria and chloroplasts have their


own DNA, which exists in a circular form
like plasmids.

2. Mitochondria and chloroplasts have their


own RIBOSOMES and so are able to
synthesize their own proteins. The
ribosomes are also similar size to
prokaryotes.

3. Mitochondria and chloroplasts both have


a PAIR OF MEMBRANES (inner and outer
membranes) that form an envelope. The
inner membrane has a prokaryotic structure
while the other has a eukaryotic structure.

4. Mitochondria and chloroplasts are similar


in SIZE to many prokaryotes.

5. Mitochondria and chloroplasts divide by


A modern example of
BINARY FISSION, while eukaryotic cells
endosymbionts are the
divide by MITOSIS.
NITROGEN-FIXING
BACTERIA (RHIZOBIUM)
that are found in
leguminous plants. They
perform their functions as
if they are organelles.

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2.7: Explain the concepts of tissue and organ using as an example the dicotyledonous root and stem.

WHAT ARE TISSUES AND ORGANS?

Cells are known as the basic functional and When multiple cells form groups the carry out
biological units of all living organisms, whether the same function, they are known as TISSUES.
they are unicellular or multicellular. Many cells An example of this would be multiple cells
can be SPECIALIZED to perform specific called neurones forming a tissue called a nerve.
functions, such as red blood cells containing Blood is also an example of a tissue, since it
haemoglobin to carry oxygen, sperm cells contains many cells, such as red blood cells,
having a flagellum or muscle cells being able to lymphocytes and phagocytes. These tissues are
contract. then grouped together to form ORGANS and
then ORGAN SYSTEMS. Examples of organs
include the heart, liver, eye, leaf and root.

Observe the structures through a transverse cross-section of a buttercup (Ramunculus) root shown below.

Name of Structure Function or Notes

Epidermis Has root hairs to provide large surface area for water absorption.

Cortex/Parenchyma Move water to the centre of the root either through cell walls or cells.

Air spaces Contains oxygen for aerobic respiration. Pathway for rapid diffusion.

Endodermis Waterproof layer to limit capillary action, due to presence of Casparian strips.

Vascular bundle Contains xylem for transporting water (across lignified walls) and phloem for
translocation of sucrose (through phloem sieve elements).

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NOTE: The diagram to the left
represents a PLAN
DRAWING. These are
drawings depicting the general
structure and main parts of a
specimen without illustrating
the complexity of cell
arrangement.

When making a plan drawing,


you should never draw the
individual cells, only the larger
structures.

The diagrams above and below depict a transverse section from a stem tissue taken from a Dahlia
specimen. Look at the above plan diagram and label the microscopic image similarly.

Name of Structure Function or Notes

Cambium A layer of dividing cells responsible for secondary growth of stems.

Sclerenchyma A very thick, hard layer of tissue used for support. Usually dead cells.

Collenchyma Layer of elongated cells with thick cell walls used for support. Usually alive.

Pith Usually comprised of parenchyma, for transport and storage of nutrients.

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TOPIC 3: MEMBRANE STRUCTURE AND FUNCTION

3.1: Explain the fluid mosaic model of membrane structure.

WHAT IS THE FLUID MOSAIC MODEL?

The phosphilipid bilayer forms the basis of the This creates a double layer with larger proteins
plasma membrane around the cell, separating the and other structures known as the fluid mosaic
inner cytoplasm from the extracellular content. It model. The model can be thought as a “sea of
is made up of phospholipids, which have phospholipids with protein icebergs”.
HYDROPHILIC (attracted to water) phosphate
heads and HYDROPHOBIC (repelled by water) Membranes are important for transfer of
fatty acid tails. materials, acting as sites for receptors and
enzymes. They also allow passage of electrical
signals, such as in the axons of neurones.

If the outer surface of the


membrane is covered
with glycoproteins or
glycolipids, this is called a
GLYCOCALYX.

Structure Function or Notes

Channel and Carrier Function as transporters for passage of hydrophilic substances or ATP.
Proteins

Glycoproteins and Can act as receptor sites to allow binding of certain molecules such as
Glycolipids HORMONES or NEUROTRANSMITTERS.

Cholesterol Maintains FLUIDITY of membrane throughout extremes in temperature.

Extrinsic Proteins Do not penetrate the bilayer. May have glycoproteins attached to them.

Intrinsic Proteins Fixed into structure.. Have hydrophilic and hydrophic regions. The
hydrophobic regions are usually attracted to the lipid tails by
HYDROPHOBIC INTERACTIONS. May also act as ENZYMES.

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3.2: Explain the processes of diffusion, facilitated diffusion, osmosis, active transport, endocytosis and
exocytosis.

WHAT IS DIFFUSION AND FACILITATED DIFFUSION?

The plasma membrane allows movement of These two types of transport usually rely on the
molecules into and out of the cells. This can creation of a difference in concentrations on
happen in a number of ways. This process can both sides (or a concentration gradient).
occur without the use of ATP (called PASSIVE
transport) or with the use of ATP (called Movement of molecules can also occur via
ACTIVE transport). VESICLES either from the inside to the exterior
of the cell (EXOCYTOSIS) or from the exterior
into the cell (ENDOCYTOSIS).

Diffusion and Facilitated Diffusion are both examples of passive transport, which means that they do not
require the use of ATP.

Using the example with the KMnO4 crystals, We can thus define diffusion as: THE NET
diffusion occurs because the water molecules MOVEMENT OF MOLECULES OR IONS
have an „internal energy‟ causing them to be in FROM REGIONS OF HIGHER TO LOWER
constant random motion. CONCENTRATION.

They bombard the crystals, causing them to


break apart and move outward. This movement
will naturally shift the crystals down a
concentration gradient.
Multiple factors affect rate of diffusion, such as
The size of the particles as well as their charge.
Heat may also increase rate of diffusion.

FACILITATED DIFFUSION
FACILITATED DIFFUSION is
is very
very much
much similar to
simple to
similar diffusion.
diffusion.

However, the
However, the main
main difference
difference is that SIMPLE
is that
DIFFUSION allows molecules
DIFFUSION allows molecules to enter to enter the
the cell
cell by
moving
by movingthrough
throughthethe
phospholipid
phospholipid bilayer (imagine like
bilayer
water draining
(imagine through
like water a layer
draining of sand).
through a layer of
sand). Facilitated diffusion requires the use of
Facilitated
specific diffusion
pathways requires
called the use of
CHANNEL specific
PROTEINS,
pathways
which formcalled CHANNEL
hydrophilic PROTEINS,
passages. Imagine which
these form
hydrophilic passages. Imagine these channels
channels like gates that will only allow entry for like open
gates that
specific will onlyorallow
molecules ions.entry for specific molecules
or ions. CARRIER PROTEINS are involved too.

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SO HOW DO THE RATES OF DIFFUSION DIFFER FOR THE TWO?


Observe the graph shown. You will see that both
types of diffusion yield different rates, with the
rate of simple diffusion mostly being
DIRECTLY PROPORTIONAL to the
concentration of substance. Facilitated diffusion,
however, has a rate of increase that decreases
over time until it reaches a peak, where the rate
is capped. Why is this?
Since facilitated diffusion requires the use of
protein channels (think of them as „tunnels‟), the
limiting factor is the number of carriers
themselves. Increasing the concentration of the
substance would eventually create a „bottleneck
effect‟ on these „tunnels‟, greatly reducing the
rate of transfer.
These carriers may open and close in response to
factors such as mechanical changes, attachment
of a signalling molecule (a LIGAND) or in
response to a potential difference (VOLTAGE).

WHAT IS ACTIVE TRANSPORT?


There are TWO main differences between both types of diffusion and active transport.

1. Unlike the other two, active transport requires the use of ATP.
2. Active transport moves molecules from up or AGAINST a concentration gradient (from a region
of LOW concentration to a region of HIGH concentration).

Active transport is carried out by CARRIER PROTEINS in


the plasma membrane, which are supplied with ATP to carry
out the process. It does this by altering the shape of the
proteins. These carriers can by SYMPORT or ANTIPORT as
shown.
An example of this occurring is when maintaining the balance
K+ ions and Na+ ions in a cell. The K+ ions are pumped into
the cell by the carrier protein as it changes shape, and Na+
ions are pumped out.

Sometimes other incidental molecules can move through the


carrier protein when it is open. This happens with glucose in
the ileum when Na+ is being taken in by the villi. This is called
INDIRECT active transport.

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WHAT IS EXOCYTOSIS AND ENDOCYTOSIS?

These two methods of transport are used for


BULK movement of materials across the
membrane. These require ATP to occur, though
do not require a concentration gradient. The
basic difference between the two being:

 EXOCYTOSIS moves substances out,


releasing them from the cell.

 ENDOCYTOSIS moves substances in,


absorbing them.

In exocytosis, a VESICLE is used as the


transport sac for the material. The vesicle will
move to the plasma membrane, combine with it
and release the contents. This process allows the
secretion of substances such as enzymes and
antibodies.

In endocytosis, the substance usually enters the


cell through the plasma membrane. Sometimes
Sometimes cells can absorb masses of fluid into the the cell changes shape to accommodate the
cell by forming a vacuole called a PINOSOME material (such as during PHAGOCYTOSIS in
Around it. This type of endocytosis is called macrophages). The area becomes enclosed,
PINOCYTOSIS. forms a vesicle and is absorbed by the
cytoplasm.

TO SUM UP, WHAT ARE SOME APPLICATIONS OF EACH PROCESS SO FAR?

Simple Diffusion Facilitated Diffusion Active Transport Exocytosis Endocytosis

Removal of carbon Movement of glucose Movement of ions Removing toxins Capturing pathogens that
dioxide from the through plasma from soil into plant from the cell‟s may endanger the
body. membrane in ileum. roots. interior. organism.

Movement of oxygen Movement of ions Creation of Delivery of Transport of cholesterol


molecules through through the plasma sodium-potassium proteins from into cells. Absorption of
plasma membrane. membrane. pump. Golgi body. nutrients in ileum.

Removal of alcohol Movement of oxygen Transmission of Delivery of Bulk transport of water


from kidney into the red blood neurotransmitters neurotransmitters into the cell.
nephrons. cells. in synapses. to other cells.

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WHAT IS OSMOSIS AND ψ?


Water molecules are small enough to pass through the tiny spaces in the phosopholipid bilayer, but only
at low rates (due to the hydrophobic fatty acid tails) It thus can be said to be PARTIALLY
PERMEABLE. There are also specialized channels called AQUAPORINS that allow the movement of
water molecules from a higher to lower water potential. Why not say „concentration‟?

Water potential is depicted as the Greek symbol


„psi‟ (ψ). Think of water potential as “the
tendency of water to leave the solution” or the
pressure that will push water molecules across,
so the higher the value is more likely the water
molecules will move across the membrane.
 HYPOTONIC solutions have very low
conc. of solute and so have a high ψ.
 HYPERTONIC solutions have high
conc. of solute and have a low ψ.

You will see water potential usually being represented as a negative (-) number. In fact, the water
potential of pure water at atmospheric pressure (with absolutely no solute in it) has a water potential of
ZERO. The more solute there is, the more negative Ψ becomes, since the solute molecules will attract the
water molecules and restrict their freedom to move.

HOW DOES OSMOSIS AFFECT CELLS?


Recall that about 60% of your body is water. A
great amount of that is found in the cells as
components of protoplasm and cytoplasm.
Moisture is also used to line membranes, such as
in the alveoli, and water is a main component of
blood plasma. It is an absolute necessity to
regulate the water-salt balance in the human
body to prevent the cells from either shrivelling
(CRENATION) or bursting (LYSIS).

Since plant cells have a CELL WALL, it does not


undergo lysis. As water enters the cell, it expands and
exerts a force called a PRESSURE POTENTIAL.

If the plant cell loses water, it causes retraction of


PLASMA MEMBRANE from the cell wall, which keeps
its shape. The external solutions begins filling the gaps
created (as the cell wall is freely permeable). The cell
dies if all parts disconnect.

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3.3: Investigate the effects on plant cells of immersion into solutions of different water potentials.

HOW TO DETERMINE THE WATER POTENTIAL OF A PLANT TISSUE

You may recall performing an experiment in O‟


Level Biology involving submerging potato
cylinders in solutions of varying sucrose
concentrations. You would‟ve then compared
the final lengths/masses to the initial
lengths/masses of the cylinders to determine
whether or not water flowed into the cell or
flowed out.

If a cylinder happens to have no change in


length and mass, then it could be assumed that
there was no difference in water potential inside
and outside of the cell (ψsolution = ψpotato). The
basis of this experiment is to perform trials with
multiple sucrose solutions and graph the %
change. When there is 0% change, that would be
equal to the water potential of the plant tissue.

Let‟s do this sample question below to plot the graph and determine the water potential of the tissue:

Molarity of sucrose sol’n (mol dm-3) 0.0 0.1 0.2 0.3 0.4 0.5

% change in mass 24 15 11 2 -4 -8

From the graph, the water potential of the tissue will be found at a molarity of 0.35 mol dm-3.

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HOW TO DETERMINE SOLUTE POTENTIAL OF A PLANT TISSUE

Solute potential (or ψs) can be defined as the If there is too much solute in the cell, water will
amount by which a dissolved solute lowers the leave and the cell loses turgor and is said to have
water potential. Simply put, the higher the solute undergone PLASMOLYSIS. There is a point
potential, the lower the water potential. It is where the cell loses enough internal water
represented as a negative number and the higher pressure that it stops pressing against the cell
the solute potential, the more negative that wall. As a result, the cell wall stops pushing
number is (e.g. 0.50 mol dm-3 of sucrose has a back. The pressure potential now becomes zero.
ψs = -1450 while 1.00 mol dm-3 of sucrose has a This is the moment just before plasmolysis
ψs = -3500). occurs, when the plasma membrane will begin to
retract. This point is called INCIPIENT
plasmolysis.

This experiment seeks to determine that point. You can think of it as the point where the water potential
inside is equal to the solute potential inside (ψinside = ψs inside), that will cause water to start to flow out. To
observe this, the tissue will be observed under a microscope under varying sucrose concentrations.

The higher the sucrose concentration, the more cells will become plasmolysed. However, this will not
happen immediately. There will be a sucrose concentration that will act as a sudden „tipping point‟. The
aim to determine that point. Observe the sample readings below and plot the graph:

Salt conc. / 0.0 0.5 1.3 1.6 1.8 2.1 2.3 2.5 2.7 3.5 4.0 5.0 6.0
g dm-3
% 0 0 0 15 30 60 80 96 100 100 100 100 100
plasmolysis

From the graph, the


point of incipient
plasmolysis is usually
determined by the 50%
plasmolysis point.

Therefore, the solute


potential of the plant
tissue will be found at a
molarity of 2.0 g dm-3.

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TOPIC 4: ENZYMES

4.1 and 2: Explain that enzymes are globular proteins that catalyse metabolic reactions. Also explain the
mode of action of enzymes in terms of an active site, enzyme and/or substrate complex, lowering of
activation energy and enzyme specificity.

WHAT IS AN ENZYME AND WHAT IS A METABOLIC REACTION?

Enzymes are globular proteins. They tend to be involved in metabolic reactions because their TERTIARY
structures (which are folded 3D structures of α helices and β sheets) are quite unique. As a result,
enzymes tend to be involved in specific reactions instead of structural roles, like fibrous proteins (e.g.
collagen).

Enzymes act as BIOLOGICAL CATALYSTS, which means that they speed up a chemical reaction.
Without them, many processes in the body would occur too slowly. Before continuing, let us define three
important terms when it comes to chemical reactions in the body.

Term Definition Example

Metabolism All the chemical reactions that occur in the Respiration occurring in the
body. mitochondria of a cell.

Anabolism The combination of small molecules to Ribosomes synthesizing proteins from


produce larger, more complex molecules. amino acids.

Catabolism The breakdown of larger molecules to The breakdown of triglycerides into


produce smaller, simpler molecules. fatty acids and glycerol.

The table below shows examples of a few enzymes you will learn in A‟ Level Biology.

Term Function or Note

Amylase Breaks down starch into maltose. Secreted by salivary glands and the pancreas.

Maltase Breaks down maltose into glucose.

Pepsin / Trypsin Breaks down proteins into polypeptides and into amino acids.

ATPase Involved in the synthesis of ATP during aerobic respiration. Found in mitochondria.

Catalase Breaks down toxic hydrogen peroxide in the body (2H2O2  2H2 + O2)

DNA ligase Joins two pieces of DNA molecules together, such as during genetic engineering.

Acetylcholinesterase Breaks down acetylcholine (a neurotransmitter) to cease transmission of impulses.

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WHAT ARE THE LOCK-AND-KEY AND INDUCED FIT MECHANISMS?

As mentioned before, enzymes are globular proteins with 3D tertiary structures. They can either be
intracellular (inside the cell) or extracellular (outside of the cell, such as pepsin).

Enzymes bind with SUBSTRATE molecules to form an ENZYME-SUBSTRATE COMPLEX and finally
convert them into PRODUCTS. For a breakdown of starch, for example, starch would be the substrate,
amylase is the enzyme and maltase is the product. The enzyme is left unaltered at the end.

The substrates are always in motion due to their kinetic energy, so think of them as rapidly colliding with
the enzymes until they bind. The active site has R groups that interact with the substrate.

The substrate temporarily binds with the


enzyme‟s ACTIVE SITE, which is a specific
shape on the enzyme‟s surface. This is often
referred to as a LOCK AND KEY mechanism if
it is a perfect fit. However, some enzymes alter
their shape slightly to accommodate holding the
substrate in place.

This is known as INDUCED FIT. Think of how


a glove may stretch slightly to accommodate a
hand. The diagram below shows this.

The maximum number of


substrate molecules that can be
converted to product per
minute is known as the
enzyme‟s
TURNOVER NUMBER.

HOW DO ENZYMES SPEED UP A REACTION?

Sometimes energy is required to initiate a reaction,


such as adding heat to Benedict‟s solution when
testing for reducing sugar. This energy is known
as ACTIVATION ENERGY.

Enzymes LOWER the amount of activation energy


required to initiate the reaction, which means that
the substrate will be converted into product at a
much faster rate.

However, if too much heat energy is applied, the


enzyme can be permanently altered and would not
work. It would experience DENATURATION.

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4.3: Explain the effects of pH, temperature, enzyme concentration and substrate concentration on enzyme
action.

THE USUAL RATE OF ENZYME REACTION

The graph shows the usual course of an enzyme reaction. With the enzyme, you will see that the initial
rate is very high. However, as a little time passes, it plateaus. Why is this? First, keep in mind there are
usually more substrate molecules than enzyme molecules.

At A, the substrates are rapidly binding with the


available enzymes so the rate of conversion of
substrate to product is at its PEAK here.

At B, all of the enzymes are currently „occupied‟


and as such, the rate of product formation
DECREASES as the substrates now must „wait‟
for an enzyme active site to become free.

At C, there are very few substrate molecules left.


At A, the graph might actually look like a straight line Very little product remains to be formed now, so
close to t = 0. Measuring slope at this region gives the rate is very low (almost a plateau) until all of
INITIAL RATE OF REACTION. it has been converted.

The graph also shows that without the enzyme, the SAME AMOUNT of substrate would be converted
into product, but it would take a much longer time. This would also happen in a more LINEAR manner.

WHAT HAPPENS IF YOU INCREASE THE AMOUNT OF SUBSTRATE?

This is given that ENZYME


CONCENTRATION remains a constant, of
course.

As before, more substrates with the same


amount of enzymes means that the enzymes
become quickly „occupied‟. Other substrates
would be rapidly colliding with the enzymes but
would be unable to bind and must „wait‟ until
one‟s active site is free. The section marked Vm
indicates that the enzyme is working at its
On the graph, you will notice that nothing has
maximum possible rate, at full capacity.
really changed in terms of how rate of reaction
occurs when the amount of substrate has been Think of it as many people lining up to go into a
increased. It still begins rapidly, slows down and building. They will eventually get in, but it will
eventually plateaus. take a while.

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WHAT HAPPENS IF YOU INCREASE THE AMOUNT OF ENZYME?

In an experiment, imagine if the amount of


starch substrate is in equal amounts in each trial.
However, what is being varied now is the
amount of enzymes available. With the same
amount of substrate but more enzymes, the
reaction will INCREASE. The INITIAL rate of
reaction will increase PROPORTIONATELY.

Think of it as people queueing up at a bank.


However, more tellers have now opened up their
stations and now more lines can form. As a
result, the transactions will occur at a much
faster rate. In this analogy, the „people‟ are
STARCH. The „tellers‟ are AMYLASE. The
Recall that starch is broken down into maltose „transactions‟ refer to the conversion of starch to
by the enzyme amylase. MALTOSE.

HOW DOES TEMPERATURE AFFECT ENZYME ACTIVITY?

Recall that substrates have KINETIC energy in


their molecules that allow them to rapidly move,
collide and eventually bind with enzymes.

If this energy is too low, they will move much


more slowly and with much less momentum, so
it is less likely for them to bind. As such, the rate
of reaction INCREASES as TEMPERATURE
increases. Reaction rate is actually said to
DOUBLE every 10oC increase. This is called
the Q10 TEMPERATURE COEFFICIENT.

This continues until about 40oC, where the rate of


reaction peaks (called the OPTIMUM
temperature). If the temperature increases past this
point, the enzyme vibrates too energetically and
the tertiary protein structure of the enzyme begins
to break down.

This is because high temperatures BREAK THE


HYDROGEN BONDS that hold the structure
together. The structure deforms and the substrate
CAN NO LONGER FIT in the active site. This is
called DENATURATION.
SAMPLE GRAPH:

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QUESTIONS:

1. Where do you think


those prokaryotes live?

2. What are the optimum


temperatures for both
proteases? Mark on the
graph.

3. Name TWO mammalian


proteases found in the
human body. State their
function and location.

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HOW DOES PH AFFECT ENZYME ACTIVITY?

Think of pH as the suppression of HYDROGEN The issue with having many hydrogen ions is
IONS in a solution. So we can say that the lower that they tend to react with other groups, such as
the pH, the higher the number of hydrogen ions. the R groups of protein molecules and disrupt
the tertiary structure of enzymes. Differences in
pH can break IONIC bonds, change the shape of
the enzyme‟s active site and cause it to
DENATURE.

The graph shows the effect of pH on two


proteases, pepsin and trypsin. Both perform the
same function (hydrolysing proteins into amino
acids) but are found in different parts of the
body. As a result, they both have different
optimum pH‟s. Pepsin works best in an ACIDIC
pH while trypsin works best in an ALKALINE
pH.

4.4: Explain the effects of competitive and non-competitive inhibitors on enzyme activity.

WHAT ARE ENZYME INHIBITORS? HOW DO INSECTICIDES WORK?

An INHIBITOR is a substance that will decrease This is called COMPETITIVE INHIBITION.


the rate of an enzyme reaction, or stop it
altogether. It might do this by preventing the Many times, this is a REVERSIBLE process and
substrate from binding to the active site. does no damage to the enzyme or the active site
Sometimes, inhibitors have very similar shapes and it functions normally afterwards. Sometimes
to the substrates and may bind to the enzyme it can permanently alter the enzyme‟s shape,
instead of the substrate, „occupying‟ the space. thus preventing any substrate molecule from
attaching to it.

Sometimes an enzyme may have another


attachment site aside from the active site
called an ALLOSTERIC site.

It is possible for foreign substrates to bind


there and disrupt the shape of the enzyme
(recall the “induced fit” model).

This is called NON-COMPETITIVE


INHIBITION and can be either reversible
or irreversible. Increasing the amount of
substrate has no effect, whatsoever, as the
enzyme itself has changed.

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From the graph, it can be seen that with


COMPETITIVE inhibition, INCREASING the
amount of substrate will raise the initial rate of
reaction. This is because the enzyme is still
functioning but the substrate is temporarily
blocked from the active site from time to time.

This is not so with NON-COMPETITIVE


inhibition. Because the enzyme has been altered
(reversibly or irreversibly), increasing the
substrate concentration does NOT increase the
rate of reaction. It makes no difference if the
enzyme itself cannot function properly.

The table below shows some examples of competitive and non-competitive inhibitors:

Name of Inhibitor Competitive or Notes


Non-Competitive
Malathion Non-Competitive Disrupts acetylcholinesterase, neurotransmitters and muscular
(organophosphate) activity. Common in insecticides.

Digitalis Non-Competitive Binds with ATPases to treat heart rhythm problems.

Alpha-Amanitin Non-Competitive Prevents production of DNA and proteins. Fatal.

Antabuse Competitive Inhibits alcohol dehydrogenase. Prevents conversion of ethanol


to the harmless acetyl coenzyme A. Induces hangovers.

Penicillin Competitive Permanently binds to bacterial enzyme, preventing the


formation of their cell walls. Antibiotic.

Malonate Competitive Blocks the enzyme „succinic dehydrogenase‟ from converting


succinate to fumarate, necessary for cellular respiration.

To sum up the differences between the two:

 Competitive inhibition is usually REVERSIBLE. Non-competitive inhibition has a higher


tendency to be IRREVERSIBLE as there is a higher chance of permanent distortion of enzyme.

 Competitive inhibitors prevent substrate from binding to ACTIVE site. No significant change in
active site shape occurs but substrate is blocked. Non-competitive inhibitors bind to
ALLOSTERIC site and significantly changes active site shape while inhibitor is binded.

 INCREASING SUBSTRATE concentration can reverse the effects of competitive inhibition. It is


futile for non-competitive inhibition.

END OF MODULE ONE 

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MODULE TWO – GENETICS AND VARIATION

THIS MODULE CONTAINS FIVE TOPICS:

1. STRUCTURE AND ROLES OF NUCLEIC ACIDS


2. CELL DIVISION AND VARIATION
3. PATTERNS OF INHERITANCE
4. ASPECTS OF GENETIC ENGINEERING
5. NATURAL SELECTION

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TOPIC 1: STRUCTURE AND ROLES OF NUCLEIC ACIDS

1.1: Illustrate the structure of RNA and DNA using simple labelled diagrams.

WHAT IS DNA? HOW IS IT STRUCTURED?

It is important to recall that DNA stands for The DNA has the shape of a DOUBLE HELIX.
DEOXYRIBONUCLEIC ACID and RNA Each chain of this helix is made of
stands for RIBONUCLEIC ACID. This is NUCLEOTIDES, which each have organic
because DNA lacks an OXYGEN that RNA has. BASES that are connected by HYDROGEN
They are mainly found in the NUCLEUS of the bonds.
cells and their tasks are to produce a genetic
code to express certain traits, such as eye colour, There are FOUR DNA bases, named ADENINE,
blood type and whether or not a disease is CYTOSINE, THYMINE and GUANINE.
present, such as haemophilia. Respectively, these are represented as the letters
A, C, T and G.

We can see from the diagram that a single nucleotide


comprises the following:

1. A phosphate group
2. A pentose sugar, deoxyribose or ribose
3. A nitrogenous base (A, C, T, G)

 A and G have two rings and are called PURINES.


 C and T have one ring and are called PYRIMIDINES.

From the diagram, you will notice numbers


marked 3‟ and 5‟. This relates to how the
PHOSPHATES are connected.

5‟ means it is connected to the 5th carbon


(just off the deoxyribose ring).

3‟ means it is connected to the 3rd carbon.

When the phosphate links with the sugar, it


forms a PHOSPHODIESTER bond. This is
a CONDENSATION reaction.
You‟ll also notice that the two antiparallel strands are connected at the Both chains actually run in opposite
BASES. These form COMPLEMENTARY BASE PAIRS and are linked directions (notice the inverted sugars). They
by HYDROGEN bonds. Observe in the diagram that a purine can only are thus said to be ANTIPARALLEL.
bond with a pyrimidine, thus:

 A can only pair with T (think „apple under a tree‟).


 C can only pair with G (think „car in the garage‟).

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NOTE: There is an
Base Type Pairs With exception to this, but it
A Purine T occurs in RNA.

G Purine C Thymine is not found in


RNA and is replaced by
C Pyrimidine G another base called
URACIL (U).
T Pyrimidine A
So A binds with U in
RNA.

1.2: Explain the importance of hydrogen bonds and base pairing in DNA replication

HOW DOES DNA REPLICATION OCCUR?

You may recall that when cell division occurs, this is called MITOSIS. Mitosis allows one parent cell to
divide into two identical (clone) daughter cells. When mitosis occurs, the DNA replicates. What this
means is that it produces TWO copies. Where does this other copy come from?

What exactly is happening here? Let‟s make sense of this.

1. An enzyme known as DNA HELICASE 2. Another enzyme known as DNA


„unzips‟ the DNA into two strands by POLYMERASE slides along the strands
breaking the HYDROGEN bonds and pairs free nucleotides with the ones
between the bases. There is now a attached to the original strands (for e.g.
„leading‟ and „lagging‟ strand. a free-floating C in the nucleus will bind
to the G on the original strand).

Since there is one old strand (the original) and one


3. HYDROGEN bonds form, linking the
new strand (the one built by DNA polymerase), this
two, and there are now two DNA
is given a name: SEMICONSERVATIVE
molecules!
REPLICATION.

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HOW WAS SEMICONSERVATIVE REPLICATION PROVEN?

The concept was proven by two scientists named Meselson and Stahl. They submerged E. coli bacteria
in ammonium chloride with the nitrogen isotope being „dense‟ (N-15). This meant that this isotope was
all the bacteria should‟ve had N-15 in its DNA. The cells were then transferred to a medium containing
the isotope N-14, which is „less dense‟.

The bacteria were harvested and the DNA collected and dissolved in caesium chloride (CsCl). This was
then put in a centrifuge and a concentration gradient was established. Observe the diagram below. After 1
generation, it showed a band of DNA of intermediate density.

This meant that it contained a strand of


both the N-14 DNA and N-15 DNA.

This proved that DNA was built by


separating parent strands and adding
new nucleotides to form complementary
strands on the new templates.

DIFFERENCES BETWEEN DNA AND RNA

Feature DNA (deoxyribonucleic acid) RNA (ribonucleic acid)


Bases A, C, G, T A, C, G, U
Number of strands Two One
Location Nucleus Nucleus and cytoplasm
Pentose sugar Deoxyribose Ribose
Role Storage of genetic code. Copying and transfer of code from DNA to
ribosomes to synthesize proteins.

WHAT ARE RIBOSOMES?

Ribosomes synthesize proteins. They are found in both


eukaryotes and prokaryotes. They are found held onto the
ROUGH ER. They contain ribosomal RNA or rRNA and
some protein. Think of ribosomes as having two parts, a
large and small sub-unit.

The large sub-unit helps hold substances like mRNA in


place while the smaller sub-unit is more flexible. rRNA
can catalyze the formation of PEPTIDE bonds between
amino acids when synthesizing proteins.

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1.3: Explain the relationship between the sequence of nucleotides and the amino acid sequence in a
polypeptide.

HOW DOES THE GENETIC CODE WORK?

We understand now that DNA is a double helical A GENE is the length of DNA that codes for a
structure of NUCLEOTIDES along a SUGAR- single polypeptide. A tiny alteration in the
PHOSPHATE backbone with HYDROGEN sequence of the DNA can cause a large change
bonds and wrapped around HISTONES. It is in the protein synthesized. If this occurs
code used by the cell to make PROTEINS, randomly (usually due to a „copying error‟), it is
which we learnt have many different functions called a MUTATION.
in the body. These instructions are taken to
RIBOSOMES, which synthesize these proteins.

As shown in the image below, there are a number of processes that take place for the DNA to be coded
into an amino acid, which will comprise the protein. The two main ones are:

1. TRANSCRIPTION – The DNA code is


copied onto a molecule called
MESSENGER RNA (mRNA). This is
done three bases at a time, called a base
TRIPLET or a CODON. Remember that
RNA does not have thymine (T) so
adenine (A) on the coding strands is
transcripted as URACIL (U) on the
mRNA.

2. TRANSLATION – The 3-letter codon


serves as instructions for the formation
of an amino acid molecule by the
RIBOSOME. Sometimes an amino acid
may form from multiple codons, e.g.
CCA, CCC and CCG all form glycine.
These are DEGENERATE codons.

The bases are said to be NON-


OVERLAPPING, which means that they
are only used once per translation. It is
also read from the 5‟ to 3‟ direction.

A START codon (TAC) initiates the


translation, while a STOP codon
terminates it (ATT, ATC or ACT).

There are up to 64 amino acids which


can be coded for with the triplets.

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1.4: Describe the roles of DNA and RNA in protein synthesis.

WHAT EXACTLY HAPPENS DURING TRANSCRIPTION AND TRANSLATION?

Firstly, let‟s form an overview of the THREE different types of RNA:

Type of RNA Role


rRNA Comprises ribosomes. Helps form peptide bonds between amino acids.
mRNA DNA code is copied onto this molecule. Helps build polypeptide with tRNA.
tRNA Helps transfer an amino acid molecule towards mRNA and build polypeptides.

Transcription onto mRNA molecule During TRANSCRIPTION, mRNA is produced


from the complementary base sequence of a
DNA strand, one gene at a time. The enzyme
DNA HELICASE breaks the hydrogen bonds
between the bases, thus unwinding the structure
into two strands.

An enzyme called RNA POLYMERASE allows


free nucleotides to bind to the DNA strand and
ensures correct pairing. More and more
nucleotides keep linking, thus ELONGATING
the mRNA molecule. The mRNA exits the
nucleus and goes to a RIBOSOME for the next
step.

Structure of a tRNA nucleotide During TRANSLATION, the bases from the mRNA
line up to make a polypeptide. Recall that the codons
are in triplets and that each triplet is linked to the
production of an amino acid.

TRANSFER RNA (or tRNA) in the cytoplasm makes


this happen. What tRNA does is bind an AMINO ACID
at a point of attachment at the top of its structure.

It attaches to the mRNA‟s bases by pairing them with a


complementary ANTICODON, e.g. AAA on the pairs
with a tRNA with an anticodon of UUU.

Enzymes in the cytoplasm called tRNA transferases


help with loading these amino acids onto the tRNA
molecules.

When the STOP CODON is read, the process terminates


for that particular mRNA molecule.

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The INITIATION of the translation process occurs when
the anticodon to the mRNA START codon is paired. The
mRNA start codon is AUG so the anticodon would be
UAC. All of this occurs through a slit in the ribosome.

Remember that the start codon will have an amino acid


attached to its top. The amino acid disconnects from the
tRNA to make the first molecule of the polypeptide.

The tRNA is now empty and moves away. The mRNA


moves through the ribosome and other tRNA molecules
now attach, allowing more and more amino acids to be
Picture it like a people throwing coins in a fountain, linked via PEPTIDE bonds. This continues until the
except there are various types of coins. The people are STOP codon on the mRNA is reached (termination).
the tRNA and the coins are the amino acids.

1.5 & 6: Explain the relationship between the structure of DNA, protein structure and the phenotype of an
organism; and describe the relationship between DNA, chromatin and chromosomes.

WHAT IS PHENOTYPE?
- CHROMATIN can be thought of
DNA in its unravelled structure for the
purpose of packaging in the nucleus.

- A CHROMOSOME, however, is
highly condensed, meant for the
separation of genetic material.
Chromosomes usually come in pairs.
Humans have 22 pairs of
HOMOLOGOUS chromosomes and 2
sex chromosomes (X or Y).

Chromatin comes in two forms: Recall that DNA determines the sequencing of
HETEROCHROMATIN and EUCHROMATIN. the amino acids that produce the polypeptides
and proteins for these genes. Therefore, DNA
Heterochromatin is denser, more tightly coiled highly influences phenotype.
and darker in colour. This is found in DNA not
being used for transcription. It should be noted that phenotype can be
influenced by the ENVIRONMENT. For
Euchromatin is lighter-coloured and less tightly- example, genes can code for expressions of light
coiled, as it is prepared for transcription. complexions. However, exposure to sunlight can
stimulate MELANIN production in the basal
The PHENOTYPE of an organism refers to the epidermis, giving that person a darker
expression of a set of genes (e.g. black fur, blue complexion.
eyes, having a widow‟s peak).

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TOPIC 2: CELL DIVISION AND VARIATION

2.1 & 2.2: Describe, with the aid of diagrams, the processes involved in mitotic cell division (including
interphase); AND observe freshly prepared root tip squash to show the stages of mitosis;

WHAT ARE THE DIFFERENT STAGES OF MITOSIS?

Stage Diagrams Notes

INTERPHASE - Not considered an actual stage of


mitosis. The nucleolus is still intact
here. Cell activities are normal.
- DNA is being replicated at this
stage in the SEMICONSERVATIVE
replication manner to avoid errors.
- The majority of the cell division
process (about 95%) is interphase.

PROPHASE - The DNA needs to be more tightly


packed to allow for easier separation.
At the start of prophase, chromatin
begins condensing into
CHROMOSOMES.
- Nuclear membrane begins
breakdown. Mitotic SPINDLES made
from microtubules form. They
originate from the CENTRIOLES.

METAPHASE - The NUCLEAR MEMBRANE has


broken down, allowing the
chromosomes to move.
- The SPINDLE fibres pull along the
centromeres of the chromosomes.
- The chromosomes align at the
EQUATOR of the cell. The
centrioles are on the polar ends of the
cell.

ANAPHASE - The CENTROMERES split.


- The MICROTUBULES pull
towards the poles of the cell.
- The sister chromatids move towards
the opposite ends of the cell and
assemble at each end.

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TELOPHASE - The chromatids are now at the


poles, which then become
chromosomes.
- The spindle fibres BREAK DOWN.
- The NUCLEAR MEMBRANE and
nucleolus reform.
- The chromosomes unwind and
become CHROMATIN once again.
- During CYTOKINESIS, the
CYTOPLASM divides and two
identical daughter cells are formed
from the one parent cell.

The figure to the left represents


an electron micrograph of a
sample of Allium tissue.

Observe the internal cell


arrangements and complete the
blanks with the words
„interphase‟, „prophase‟,
„metaphase‟, „anaphase‟ and
„telophase‟.

On the lower specimen, draw


label lines for five cells for each
of the aforementioned phases.

It should be reiterated that


PLANT CELLS do not have
centriole organelles.

Instead, their nuclear envelopes


perform the similar functions as
the cell cleaves along the middle
to divide.

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2.4: Discuss the role and importance of mitosis in growth, repair and asexual reproduction.

WHAT IS MITOSIS INVOLVED IN?

Role Explanation
Asexual When one parent cell splits into two identical daughter cells, this leads to asexual
reproduction reproduction in many organisms, both unicellular (such as AMOEBA) and
multicellular (such as in BRYOPHYLLUM meristems or in HYDRA). This is
because there is only ONE parent.
Growth Since mitosis results in cloned daughter cells, growth can normally occur in areas
such as the MERISTEMS of plants or of the ZYGOTE of animals, which will keep
dividing to eventually form the embryo.
Tissue repair Mitosis is used to regenerate any cells or tissue that has been lost due to damage or
age. The cells will divide and form new cloned daughter cells.
Immunity When exposed to pathogens, the body will ensure that there are adequate
LYMPHOCYTES to produce sufficient antibodies to destroy the foreign invaders.
When one is ill, there is always an excess production of white blood cells.

2.5: Explain what is meant by homologous pairs of chromosomes, and the terms haploid and diploid.

The top figure shows the human KARYOTYPE,


which is a micrograph of the visual appearance of
the chromosomes in the nucleus.

There are 23 pairs of chromosomes, with pair


number 23 being the SEX chromosomes (X or Y).

All other 22 pairs are considered HOMOLOGOUS,


which means they carry the same genes on the
same positions or LOCI.

Due to MEIOSIS, gametes each have half of the


chromosomes. This is represented as „n‟ and is
called a HAPLOID cell.

Other body cells, called SOMATIC cells, have the


full number of chromosomes (2n). These are called
DIPLOID cells. A typical human would thus have
a diploid number of 46.

It should be worth noting that individuals with


DOWN‟S SYNDROME have an extra
chromosome on pair 21 (called TRISOMY 21).
They would have a diploid number of 47.

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2.6 & 7: Describe with the aid of diagrams, the processes involved in meiotic cell division, and describe
how meiosis contributes to heritable variation.

WHAT IS MEIOSIS? HOW IS IT DIFFERENT FROM MITOSIS?

Meiosis is type of cell division, in ways similar Meiosis is mainly different due to the fact that it
to mitosis, but with many key differences, produces daughter cells with GENETIC
especially concerning the daughter cells that are VARIATION, meaning each is different from
formed from the parent cell. Meiosis occurs in the parent and from each other. This is due to
any organisms that undergo SEXUAL DNA CROSSING OVER.
reproduction and must produce sex cells or
GAMETES. Chromosomes arrange themselves in pairs called
BIVALENTS and cross at CHIASMATA.
When two gametes fuse during Meiotic daughter cells also only have HAPLOID
FERTILIZATION, they form a ZYGOTE and numbers, meaning they have half the number of
be the first cell of a new organism. This cell then chromosomes.
repeatedly divides by MITOSIS as the organism
undergoes growth and further development.

Table showing differences between mitosis and meiosis:

Feature Mitosis Meiosis


Daughter cell DNA Genetically identical (clones). Undergo genetic variation due to crossing
No crossing over or chiasmata. over, independent assortment and random
segregation.
Number of divisions One Two
No. of daughter cells Four Two
Daughter cell Diploid (2n) Haploid (n)
chromosome number
Behaviour of homologous Act independently of each Pair up to become bivalents.
chromosomes other.

The diagram shows a CHIASMA


forming between a bivalent. Here,
the chromatids break and rejoin and
„exchange‟ alleles.

Chiasmata can form at numerous


points in the chromatids, at various
gene locations or loci.

This happens during meiosis at the


stage called PROPHASE I.

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HOW ELSE DOES MEIOSIS CONTRIBUTE TO GENETIC VARIATION?

There are THREE main mechanisms involved in sexual reproduction that contribute to genetic variation.
Two of these occur during meiosis and the third occurs during fertilization.

Mechanism Explanation
INDEPENDENT Chromosomes pair up into bivalents and align at the equator of the cell. One from
ASSORTMENT this pair come from the mother and the other from the father. These pairs are each
sorted into the daughter cells independently and can result in a massive number of
combinations.

CROSSING Previously mentioned, crossing over in the bivalents occur in fusion and breakage
OVER points in the bivalent chromatids called chiasmata.

RANDOM Remember that gametes have a haploid number of chromosomes, which are all
FERTILIZATION independently assorted and crossed over. Each gamete is genetically unique. During
sexual reproduction, the gametes that fuse are up to chance.

WHAT ARE THE ADVANTAGES OF HERITABLE GENETIC VARIATION?

Reason Explanation
Limiting spread of Genetic variation ensures that each member of a species has varying levels of
disease immunity against communicable diseases. If all the organisms were genetically
uniform, diseases would spread very quickly through populations.
A popular example involves the fungal Panama disease against Gros Michel
banana cultivars.

Ensuring a species can Genetic variation ensures that individuals are diverse enough to be able to
adapt to environmental survive in different climates, temperatures and differences in abiotic factors.
changes With climate change on the rise, vegetatively propagated plants that cannot
adapt to high fluctuations in temperature may die.

Preventing If organisms are diverse, so would their needs for survival such as diet and
overcompetition habitat. Due to this, these species would not have to fight for limited resources.
between members of the
The basic example of this are the finches on the Galapagos Islands, studied by
species.
Charles Darwin to form his theory of evolution.

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WHAT ARE THE STAGES OF MEIOSIS?

It is important to note that meiosis occurs in TWO main stages that are simply named MEIOSIS I and
MEIOSIS II. Meiosis I involves independent assortment and crossing over, while the stages in Meiosis II
is almost identical to mitosis.

MOST NOTABLE EVENTS:

 PROPHASE I – Homologous chromosomes arrange into bivalents. Chiasmata form.


 ANAPHASE I – The number of chromosomes are halved as the bivalents are pulled to the
opposite poles. From here on and throughout Meiosis II, the daughter cells are HAPLOID.
 ANAPHASE II – The sister chromatids are pulled apart again.
 CYTOKINESIS II – The four daughter cells are formed. This is the end of meiosis.

NOTE: What may seem confusing at first are the terms „chromosome‟ and „chromatid‟. When
chromosomes are in their duplicated state, they are „2 sister chromatids‟ but still „1 chromosome‟. So when
DNA is replicated, there are 92 chromatids but still only 46 chromosomes. It is easier to determine the
chromosome number not by counting the chromatid strands but each unit as a whole.

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2.8-2.11: Describe gene and chromosome mutations; sickle cell anaemia; mutations & genetic variation.

WHAT IS GENETIC STABILITY? WHAT IS A MUTATION?

If a cell dies, the body must replace that cell. The only way to replace the cells is to first copy the
information that the cell contained. There is a complex system of proteins and enzymes that unravel the
DNA double helix so that the DNA can be copied.

If a single cell dies it can be replaced through Sometimes, a MUTATION may occur. This
MITOSIS. This system works well with single occurs when there is a RANDOM and
cell and simple organisms. More complex unpredictable error in this copying system. This
organisms use meiosis to produce gametes (egg can occur in numerous ways, such as a base
or sperm cells) for sexual reproduction. Meiosis being deleted, substituted or an extra base being
also begins with DNA replication. The genetic added. Sometimes MUTAGENS, such as
stability of a multicellular organism is reliant on carcinogens of high-frequency radiation, can
an accurate DNA replication system. increase the likelihood of mutations by
damaging the DNA.

Note that mutations can be categorised into two main groups: GENE and CHROMOSOME. There are
also numerous ways in which gene mutations can occur:

Type of Gene Mutation Explanation Example

SUBSTITUTION (or Replaces one base with another. Sometimes this does not
POINT MUTATION) result in any change (as many triplets code for the same
protein), so it is often called a SILENT mutation.
Examples include SICKLE CELL ANAEMIA and PKU.

DELETION The loss of a base pair. Changes how the entire DNA
sequence is read. Also called a FRAME SHIFT
mutation, due all the bases being „shifted‟.

INSERTION The addition of a new base pair. Also is called a


FRAME SHIFT mutation. An example of this is
CYSTIC FIBROSIS.

SICKLE CELL ANAEMIA is caused by the


SUBSTITUTION in the gene that codes for the
polypeptide chains in haemoglobin. This single base
pair change translates into a fully different protein
called VALINE, affecting the curvature of the cells.

These cells are unable to transport OXYGEN.

Moreso, the cells now have the ability to bond with


each other, causing them to aggregate and cause
painful blockages.

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WHAT ARE CHROMOSOME MUTATIONS?

While gene mutations are changes in the When the cell divides during the first phases of
nucleotide sequences in the DNA (such as by MEIOSIS, there is a random chance of the
insertion, substitution or deletion), chromosome chromosomes being pulled apart unevenly
mutations are changes in the cell‟s chromosome between the daughter cells. When this happens,
NUMBER or chromosome STRUCTURE. it is called NON-DISJUNCTION.

The diagram to the left shows


several ways in which
chromosome mutations may
occur.

Examples of chromosome
mutations include Down‟s
Syndrome, Klinefelter‟s
syndrome (XXY
chromosomes) and Turner
syndrome. (only one X
chromosome in women).

DOWN‟S SYNDROME is caused by a type of


chromosome mutation called ANEUPLOIDY,
which means there is either one less or one extra
chromosome.

A person with Down‟s syndrome has 47


chromosomes. This is because Chromosome 21
puts two copies into one EGG and no copies in
another. The one with no copies will die. The one
with two copies will fuse with the third from the
sperm cell, causing 3 copies, TRISOMY 21.

HOW IS MUTATION RELATED TO GENETIC VARIATION?

Recall that all members of the same species are able to interbreed and produce FERTILE offspring. Every
species has some genetic variation, due to only half of the chromosomes being passed down from each
parent after being independently assorted and crossed over. Note that ENVIRONMENTAL variation
(such as sunlight exposure affecting skin complexion) is not passed down through genes.

A MUTATION is a random change in the DNA, sometimes involving a trait not present in the parent
organism. As a result of this, new PROTEINS may be translated from the new nucleotide sequences,
resulting in new PHENOTYPES. This can have a great impact on NATURAL SELECTION, if these new
phenotypes give the organism an advantage over others in its environment.

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TOPIC 3: PATTERNS OF INHERITANCE

3.1 & 2: Explain the terms: gene, allele, dominant, recessive, codominant, homozygous and heterozygous.
Use genetic diagrams to solve problems involving monohybrid and dihybrid crosses.

FIRST, A VERY HANDY GLOSSARY OF INHERITANCE TERMS

Term Definition

Gene A nucleotide sequence which determines the formation of a protein.


A length of DNA that codes for a particular trait by formation of a protein.

Allele A different form of a gene, found on the same locus of the chromosome.
„Wild type‟ alleles refer to those found naturally in populations.

Dominant Describes an allele that will express its trait even if a different allele is present.

Recessive Describes an allele that will only express its trait if a dominant allele is absent.

Codominance Describes alleles that produce a combined effect when expressed together.

Genotype A gene combination that will express a trait. (e.g. FF, Ff and ff are all genotypes)

Phenotype The observable characteristics expressed by that trait. (e.g. round or wrinkled seeds).
Ultimately determined by genes, which are sequences of DNA that lead to the
formation of proteins. Changing a gene can thus change expression and phenotype.

Homozygous A genotype where both alleles are the same. (e.g. FF or ff)

Heterozygous A genotype where both alleles are different. (e.g. Ff)

Autosomes Refers to chromosomes that are not sex chromosomes (the first 22 pairs).

Sex-linked Traits inherited by genes on loci on the X or Y chromosomes (e.g. haemophilia).

Dihybrid inheritance The inheritance of two genes at the same time (e.g. AABB, AaBb, aaBB, AAbb, etc.)

Epistasis The event where the genotype for one gene affects the expression of another gene.

Chi-square (χ2) test A statistical test that determines whether or not observed ratios are significally different
from expected ratios.

Null hypothesis A statement in a chi-square test that says that there is no significant difference between
what is observed and expected.

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MONOHYBRID INHERITANCE AND MULTIPLE ALLELES

When a single gene is inherited at a time, this is called monohybrid inheritance. Most of the Punnett
squares you‟ve done previously has been related to this type of inheritance. Many traits, such as blood
type and eye colour, and inheritance of mutant alleles that cause diseases come as a result of this.

Let‟s use CYSTIC FIBROSIS (CF) as an The faulty allele ensures that the protein is not
example. This is an inheritable disease that produced and chloride ions build up, resulting in
causes the body to produce large amounts of the mucus build-up. CF is inherited in an
thick mucus in the lungs and pancreas. AUTOSOMAL RECESSIVE manner, meaning
that the disease only occurs if both RECESSIVE
This mucus becomes a breeding ground for alleles are present in the genotype (ff). The
bacteria, which leads to other infections. CF is presence of a dominant allele (F) prevents the
caused by a „faulty‟ allele, which would usually expression of the faulty recessive allele.
produce a channel protein called CFTR, which
allows flow of CHLORIDE ions in and out of a
cell.

 Let‟s observe how two parents who are carriers for CF can produce a child with CF.

The setup to the left is called a


PUNNETT square. Keep in mind what
these represent are probabilities.

It does not mean that the parents have


four children and one has CF. It means
that for every child that they have, there
is a 1 in 4 (25%) chance of having CF.

Also note that the expected phenotypic


ratio is written below. In some problems,
this can deviate from what is actually
observed. This is usually done by
performing a χ2 TEST.

This shows inheritance of the ABO


blood group. There are three alleles,
which code for either antigen A, B or O.

It is notable that A and B are both


CODOMINANT, which means they will
be expressed together as a new
phenotype if both are present (AB type).

O is recessive to A and B.

Let‟s see how two parents who are not


blood type O can produce a child with
blood type O.

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WHAT ARE SEX-LINKED TRAITS?

Sex-linked (not to be confused with sexually The Y chromosome is small compared to the X
transmitted) traits occur when the alleles are and has less available positions for alleles, so
placed in either the X or Y chromosomes. Note some alleles will be present in the X but not the
that these two chromosomes are not Y.
HOMOLOGOUS, which means that they would
not have the same number of gene loci. It is notable that men cannot pass on an allele
from their sole X-chromosome to their sons as
their sons would always inherit their Y
chromosome and the X from the mother.

One popular example of a sex-linked disease is HAEMOPHILIA, which occurs due to inheritance of a
faulty allele that is placed on the X chromosome but which locus is absent on the Y chromosome.
Therefore, if a boy only has one faulty allele, he will have haemophilia. A girl would need two faulty
alleles. As a result, it is more likely for boys to inherit haemophilia.

Using XH as the normal blood clotting allele and Xh as the haemophilia allele, complete the Punnett
square below. (Remember the Y chromosome does not have a locus for the allele, so it‟s left blank.)

Haemophilia restricts the


production of Factor VIII,
a protein necessary for
blood clotting. As a result,
a haemophiliac may
experience haemorrhaging
in certain parts of the
body.

WHAT IS DIHYBRID INHERITANCE? Genotype Phenotype

The concept of dihybrid inheritance is mostly similar RRYY Round, yellow peas
to monohybrid inheritance, with the standout RRYy Round, yellow peas
difference being that it occurs when TWO alleles are RRyy Round, green peas
inherited at the same time.
RrYY Round, yellow peas
These two alleles could be on two separate RrYy Round, yellow peas
chromosomes but often act together. One pair of
Rryy Round, green peas
alleles may also influence the expression of another
pair. When this occurs, it is called EPISTASIS. rrYY Wrinkled, yellow peas
rrYy Wrinkled, yellow peas
Let‟s look at traits of peas, where round (R) is
dominant to wrinkled (r) and yellow (Y) is dominant to rryy Wrinkled, green peas
green (y).

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WHAT IS EPISTASIS?

As previously said, sometimes during dihybrid However, if a pair of alleles determines the
inheritance, the expression of a pair of alleles organism does not have a pigment (an
can have influence over the expression of others. ALBINO), then the other allele combinations
Sometimes a trait will not manifest because of would not matter. If the first pair of alleles
the expression of another trait, or if a pair codes determines the animal is an albino, then no other
for the absence of a certain enzyme. A very coat colour is even possible.
common example occurs with coat colour in
animals. Coat colour depends on the presence of This is known as EPISTASIS. It should be noted
pigments. that epistasis can be either dominant or
recessive.

Let‟s look at this example below. Picture a species of mouse that can have either a brown (b) or black (B)
alleles for coat colour. Black is dominant to brown. However, another pair of alleles code for the presence
of melanin to produce the coat. „C‟ represents melanin production and „c‟ represents no melanin.

From the dihybrid test cross, ANY mice that


have a combination of „cc‟ will be albino and
have white fur colour, despite the second pair.

The phenotypic ratio would thus be:

6 black coats: 6 brown coats: 4 white coats

Now imagine if „C‟ represented no melanin


production. What would be the ratio then?

2 black coats: 2 brown coats: 12 white coats

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3.3: Analyse the results of a genetic cross by applying the
WHAT IS THE χ2 (CHI-SQUARE) TEST? Chi-square test.

The χ2 test is a statistical test that is often used to compare OBSERVED results with EXPECTED results
to determine if there are any significant differences between them. This is done to see if there are any
external variables affecting the results, such as environmental factors, mutations or human intervention.

To do any statistical test, a NULL HYPOTHESIS is first set up. A null hypothesis would read as:

H0: The observed results are not significantly different from the expected results.

If this is not so, then the ALTERNATIVE HYPOTHESIS must be accepted, which would read as:

H1: The observed results and expected results have a significant difference between them.

Let‟s try an example:


Let‟s observe the Punnett square to the left. „R‟ represents round peas,
which is dominant to „r‟, which is wrinkled peas. If you cross-breed two
heterozygous pea plants, the ratio obtained is 3 ROUND : 1 WRINKLED.

Now here was what was actually observed: 5474 plants with round peas
and 1850 plants with wrinkled peas. The total was thus 7324. We now
have to determine what was expected to happen. To do this, we just
multiply the total by the percentages:

Round = 75% x 7324 = 5493 Wrinkled = 25% x 7324 = 1831

Phenotype Observed (O) Expected (E) (O – E) (O – E)2 (O – E)2 / E

Round 5474 5493 -19 361 0.066

Wrinkled 1850 1831 19 361 0.197

Sum (χ2 value) = 0.263

The next step is to determine the number of


Degrees Probability degrees of freedom, which is simply (No. of
of
phenotypes – 1). In this case, there were only two
freedom 0.9 0.5 0.1 0.05 0.01 0.001
phenotypes observed, so the degrees of freedom in
1 0.02 0.46 2.71 3.84 6.64 10.83 this case is 1.

2 0.21 1.39 4.60 5.99 9.21 13.82 Now, determine the „p value‟ on the table
provided. The „p value‟ is used to determine if
3 0.58 2.37 6.25 7.82 11.34 16.27 there are any significant differences between
observed and expected values.
4 1.61 3.36 7.78 9.49 13.28 18.46
Typically a „p value‟ of > 0.05 or 5% means that
You‟ll see that our probability lies between 0.5 and 0.9 (much there is no statistical significant difference between
higher than 0.05). So we can fail to reject the null hypothesis. the two and we fail to reject the null hypothesis.

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Let‟s try two more questions:

QUESTION ONE: “During dihybrid inheritance, two pea plants of genotypes RrYy were crossed. This
should have yielded a 9:3:3:1 ratio. The offspring were counted and the numbers were recorded.”

The degrees of freedom would be 3. Use the table on the previous page to determine whether to accept the
null hypothesis or alternative hypothesis.

Phenotype Observed (O) Expected (E) (O – E) (O – E)2 (O – E)2 / E

Round, yellow 365 390.94 - 25.94 672.88 1.72

Round, green 125 130.31 - 5.31 28.20 0.22

Wrinkled, yellow 140 130.31 9.69 93.90 0.72

Wrinkled, green 65 43.44 21.56 464.83 10.70

Sum (χ2 value) = 13.36

In this case, the ALTERNATIVE hypothesis would be accepted, meaning that there IS a significant
difference between the observed and expected results. We have rejected the null hypothesis.

QUESTION TWO: “During dihybrid inheritance, brown coat and black coat mice were mated and their
offspring observed. They experienced recessive epistasis, meaning some offspring had white coats. Their
expected ratio was 3 brown : 3 black : 2 white.”

Use the table on the previous page to determine the „p‟ value.

Phenotype Observed (O) Expected (E) (O – E) (O – E)2 (O – E)2 / E

Brown coat 64 67.50 - 3.50 12.25 0.18

Black coat 66 67.50 - 1.50 2.25 0.03

White coat 50 45.00 5.00 25.00 0.56

Sum (χ2 value) = 0.77

In this case, the NULL hypothesis would be accepted, meaning that there ISN‟T a significant difference
between the observed and expected results.

NOTE: Even though we have been saying „accept‟ null hypothesis, the actual terminology is to „fail to
reject‟ the null hypothesis. The difference in the language is minor but therein still lies a difference.

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TOPIC 4: ASPECTS OF GENETIC ENGINEERING

4.1 & 4.2: Outline the principles of restriction enzyme use in removing sections of the genome, and
explain the steps involved in recombinant DNA technology.

WHAT EXACTLY IS GENETIC ENGINEERING?

Genetic engineering (GE) can be defined as THE ALTERING OF THE DNA in an organism, usually by
extracting and inserting the DNA from a member of one species to another species. This altered DNA is
called RECOMBINANT DNA and the organism which genome now contains it is called a GMO, which
is short for GENETICALLY MODIFIED ORGANISM.

It is often compared to ARTIFICIAL SELECTION (or selective breeding), but they remain two entirely
separate processes. Whereas both involve the passing of traits from one organism to another, GE is a
more specific and expensive process, using enzymes to cut, transfer and attach DNA, one gene at a time.
It can also change the DNA of the organism without having it inherit the traits from its parents. This
means it can be used to treat certain diseases, such as SICKLE CELL ANAEMIA.

So what happens? NOTE: Think of restriction


enzymes as molecular
“SCISSORS” and think of DNA
ligase as molecular “GLUE”.

 First, lengths of DNA are cut from the human DNA. This is done using a RESTRICTION
enzyme. These are made by bacteria to fight off bacteriophage viruses.
 Similarly, the restriction enzyme makes cuts on a bacteria PLASMID (a circular length of DNA).
Imagine that this leaves a gap in that DNA. This is also called a VECTOR.
 Another enzyme named DNA LIGASE is used to join both sets of DNA to make a segment of
RECOMBINANT DNA.
 The recombinant DNA is inserted into the bacteria, which now becomes a GMO. The
recombinant bacterial cells are now cloned. This can be done using a process called PCR.
 This process is just a general overview. There are many variations and processes involved.

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NOW LET‟S GET MORE SPECIFIC... How is the gene isolated?

INSULIN is a hormone (a protein) that is produced by the BETA cells of the human PANCREAS. It is
necessary for the conversion of GLUCOSE TO GLYCOGEN. GE is used in the modern day to produce
large amounts of insulin from transgenic E. coli. The first step is to extract the human DNA code for
insulin production.

This is done using an enzyme called REVERSE DNA POLYMERASE is now used to attach free
TRANSCRIPTASE. This enzyme takes the nucleotides to form the other strand. The insulin
mRNA extracted from the pancreatic beta cells gene has now been isolated.
and uses it as a template to produce a single
complementary strand of DNA.
NOTE: CRISPR-Cas9 is a modern example of
genetic technology that has allowed genome editing
by adding or altering sections of the DNA sequence.
It is one of the most precise methods right now.

How exactly is the DNA inserted into the plasmid?

A PLASMID is commonly used as a vector to When bacteria are attacked by viruses, they
transport genetic material from one organism to produce RESTRICTION ENZYMES. These can
another. Recall that plasmids refer to DNA be used to cut particular base sequences of
packaged in a circular form and are usually DNA. A popular example of a restriction
found in bacterial cells. Another thing to note is enzyme is EcoRI, which cuts a GAATTC
that plasmids often contain some genes that sequence (as well as cDNA sequence).
make them resistant to ANTIBIOTICS.

Observe that the cuts are asymmetrical and so then mixed until they pair with each other to
leave points that jut out. These are known as form RECOMBINANT DNA. An enzyme called
STICKY ENDS and can easily form hydrogen DNA LIGASE is then used to „tie‟ everything
bonds with complementary base pairs and form together, linking the sugar-phosphate backbones
new DNA. This is also done to the insulin DNA. of the DNA molecule.
The bacterial plasmids and the insulin DNA are

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Now how do we get the recombinant plasmids into the bacteria?

The recombinant plasmids are mixed in a


solution containing the bacterial culture.
However, most of the bacteria do not get the
plasmids into their cells. Only about 1% actually
take the plasmid into them.

So how do we know which ones are of that 1%?


It so happens that when the plasmid was altered
IMPORTANT: There‟s also a gene on the E. before fitting it with the insulin gene, another
coli plasmid that gives it resistance to another gene was inactivated. This gene provided
antibiotic called AMPICILLIN. ANTIBIOTIC RESISTANCE for an antibiotic
named TETRACYCLINE.

A few samples of the bacterial colonies are now placed in an


agar plate containing the ampicillin antibiotic and also in
tetracycline antibiotic. Those without the plasmid would die
after exposure to either antibiotic.

The recombinant plasmids would not survive in tetracycline


as their tetracycline-resistance gene has been inactivated.
The ones that survive ampicillin but die in tetracycline are
singled out and those colonies are then isolated and regarded
as the ones that contain the INSULIN gene.

The culture containing the recombinant bacteria are now


placed in a FERMENTER, as shown to the left. There, the
culture is stirred with nutrients to encourage the bacteria to
multiply. The TEMPERATURE is maintained using the
water-cooling jacket.

Let‟s recap some of the important factors needed:

Compound Role
RESTRICTION Used as “molecular scissors” to cut pieces of DNA. Leaves sticky ends to
ENZYMES attach complementary pieces of DNA.
REVERSE Synthesizes DNA molecules from mRNA template.
TRANSCRIPTASE
DNA LIGASE Used as “molecular glue” to connect lengths of DNA and form bonds.
DNA POLYMERASE Used in DNA replication, to produce a complementary strand of DNA from a
single DNA molecule.

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4.3: Discuss the successes and challenges of gene therapy in modern medicine.

WHAT IS GENE THERAPY USED FOR?

Gene therapy is the process of TREATING OR PREVENTING DISEASE BY ALTERING THE GENES
IN A PERSON‟S CELLS.

There are numerous success stories and challenges associated with gene therapy:

SCID: The first human to receive gene therapy was an infant girl with SCID (severe combined immune-
deficiency), which is caused by a faulty gene that prevented the production of an enzyme. Due to this, the
girl was unable to fight off PATHOGENS. The correct allele was inserted into the girl‟s white blood cells
using a RETROVIRUS vector and re-inserted into her body. She was then able to resist pathogens and
lead a normal life.

CYSTIC FIBROSIS (CF): Patients with CF CF is caused by a defective recessive allele that
tend to produce thick MUCUS in multiple parts is responsible for a carrier protein called CFTR.
of the body. This mucus can become breeding The protein is not placed on the plasma
grounds for bacteria and thus, many organs may membrane. Researchers first placed the correct
be prone to infections. It may even cause men to allele in a LIPOSOME, which could diffuse
be sterile due to blocking ducts in the male through the phospholipid bilayer. It worked only
reproductive system. temporarily. Researchers then tried VIRUS
vectors to transport the gene but patients began
to suffer side-effects from infection. The studies
are ongoing.

With the advent of technologies such as CRISPR-Cas9, studies are currently being done on treating
diseases such as: SICKLE CELL ANAEMIA, HAEMOPHILIA, AIDS and LYMPHOMA.

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4.4: Discuss the implications of the use of GMO’s on humans and the environment.

Type of implication Details

Environmental  The release of a GMO species would have the possibility of causing an
ECOLOGICAL IMBALANCE. The main concern is that crops can spread
their genes to wild plants through pollination.

 Crops, such as maize, are also engineered to produce their own PESTICIDES.
However, due to NATURAL SELECTION, insects may become resistant to
the pesticides. The insecticides may also inadvertently harm insects that are not
considered pests.

 The production of GOLDEN RICE in developing countries has been a success.


Golden rice is engineered from transferring genes from daffodils, which allow
the rice to produce BETA-CAROTENE for VITAMIN A.

Ethical and Social  There is a strong argument that, because the process is often irreversible, GE is
viewed as PLAYING GOD.

 The possibility of CLONING humans raises many social issues, as well as


producing DESIGNER BABIES for cosmetic desirable traits.

 The use of GE to produce BIOLOGICAL WEAPONRY is another concern in


terms of warfare between nations and for use of terrorist groups. GMO‟s can
be produced quite quickly, further increasing levels of potential devastation.

Medical  It is possible for ALLERGENS can be transferred from one food crop to
another through genetic engineering. Another concern is that pregnant women
eating GMO products may endanger their offspring by harming normal fetal
development and altering gene expression.

 GMO‟s may lead to diseases not yet known. As defective genes are replaced
with functional genes, it is expected that there will be a reduction in genetic
DIVERSITY, making the population more susceptible to infections.

GERMLINE VS. SOMATIC

There are also concerns of using GERMLINE


gene therapy, which will allow the GAMETES
to transfer the recombinant DNA and thus, pass
it on to offspring. This can alter the entire gene
pool.

Gene therapy, so far, such as for CF has been


SOMATIC gene therapy, only targeted at
altering certain body cells but not the germline
cells (gametes).

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TOPIC 5: NATURAL SELECTION

5.1 – 5.3: Explain how environmental factors act as forces of natural selection; how natural selection
may be an agent of change or constancy; and how it is a mechanism of evolution.

WHAT IS THE THEORY OF NATURAL SELECTION?

Recall that whenever species reproduce SEXUALLY, the offspring receives half of each parent‟s
chromosomes after being independently assorted and crossed over, resulting in unique nucleotide
sequences. Due to this, each member is said to have GENETIC variation. This combines with
environmental factors such as climate, geography, temperature and water availability. As a result, some
members of the same species may exhibit slightly different physical characteristics from others, such as
size, colour and even susceptibility to disease.

During a trip to the Galapagos Islands in the


Pacific, a biologist named CHARLES DARWIN
observed the animals living there, including a
group of finches.

He realized that they had no NATURAL


PREDATORS and thus were able to reproduce
quickly. They were also physically separated from
each other, living on different islands or habitats.
Because of this, they avoided COMPETITION
with each other.

Finally, he observed that their beak size or


thickness was linked to their diets. Thick-beaked
birds tended to feed on SEEDS and FRUITS while
thin-beaked birds fed on INSECTS and WORMS.

Darwin hypothesized that the birds must have had a common


ancestor.

Genetic variation allowed the common ancestor birds to have


slightly different beak sizes, which played a major role in them
being able to survive. Birds of similar beak sizes would have
grouped together according to these ecological NICHES and
thus, mated.

When mating, they passed down their physical traits to their


offspring. Eventually, the offspring from the different groups
would have been so varied from each other that they were unable
to mate, resulting in new distinct species (SPECIATION).

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Darwin‟s observations and deductions: Only the organisms BEST ADAPTED are the
ones more likely to survive and pass on these
Darwin made several observations and advantageous traits to their offspring. The
deductions when coming up with the theory of species eventually becomes better and better
natural selection. The theory of natural selection adapted to overcome these selective pressures.
posits that certain environmental challenges (or
SELECTIVE PRESSURES) may arise. These E.g. if members of a species develop immunity
selective pressures could be a change in to a certain infectious, deadly disease, these are
temperature, the rise of a pathogen or the the ones that will survive and reproduce.
introduction of a new predator, for example.

Observation Deduction

Members of a species VARY between each other. If traits can be inherited then the organisms will pass them
Some of these variations are INHERITED. on to their offspring.

All organisms produce EXCESS offspring. There is a STRUGGLE FOR EXISTENCE, or


competition for survival among members of each species.

Population numbers remain fairly CONSTANT Members that are BEST ADAPTED to their environment
over long periods of time. are the ones most likely to survive, reproduce and pass on
their ADVANTAGEOUS traits.

REGIONAL CASES OF NATURAL SELECTION

Observation Deduction

TRINIDADIAN GUPPIES Trinidadian guppies are models of natural selection. They have
developed various mechanisms that help them evade predators.
They can produce excess PIGMENT in their eyes, making them
black, to throw off predators‟ aim.
Depending on their predators, they will grow to different SIZES
upon sexual maturity. For e.g. guppies with cichlid predators
grow to smaller sizes since cichlids tend to hunt larger fish.

CARIBBEAN ANOLE LIZARDS Anole lizards have been observed to branch into many different
colours and sizes, called ECOMORPHS. This is totally
dependent on their habitat and diets, just like with Darwin‟s
finches.
It was observed that a single type of anole lizard in each island
branched into the same ecomorphs on the different islands,
providing evidence that evolution can be predicted and repeated.
This, along with the guppies, have also shown evolution
occurring on a much shorter timespan.

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THE CASE OF THE PEPPERED MOTH (Biston Betularia)


Biston betularia is a nocturnal moth, common in
Continental Europe. „White‟ variants of the moth were
more prevalent when it was first observed. In the 1800‟s,
a rare „black‟ variant was also observed.

It was deduced that the „white‟ variant was more


prevalent because of its ability to CAMOUFLAGE
against the pale LICHEN of tree trunks. „Black‟ variants
were more easily spotted by predators.

Later in the century, the „black‟ variants became much


more common after the tree trunks darkened due to soot
deposits. This was called INDUSTRIAL MELANISM.
The white moths were now at a disadvantage and more
Can you spot the black and white variants? easily spotted by predators.

THE CASE OF ANTIBIOTIC RESISTANCE

Antibiotics are chemicals that are ingested to kill bacteria. They are usually produced by other living
organisms. A prime example is PENICILLIN, which is produced by the Penicillium fungus. Penicillin
prevents the formation of CELL WALLS in bacteria cells. However, some MUTANT bacteria have
produced an enzyme which inactivates penicillin and thus, have become RESISTANT to it.

As a result, any bacteria that isn‟t resistant to penicillin will die, leaving the mutant population to
REPRODUCE and rapidly increase. This is highly dangerous, especially to patients who are already very
ill. The antibiotics in this case would be an example of a SELECTIVE PRESSURE. There exists a type of
bacteria called MRSA (methicillin-resistant Staphylococcus aureus) which are resistant to numerous
antibiotics and usually infect patients with compromised immune systems.

There is also the case of INSECTICIDE resistance, where many pests have grown resistant to them. This
is usually an argument for BIOLOGICAL CONTROLS being used instead of insectides.

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WHAT ARE THE DIFFERENT TYPES OF SELECTION?

Observation Deduction

In directional selection, one variant that has an


EXTREME FORM of the trait is selected over the
average and other extreme.
The black OR white variants of B. betularia are
selected due to their abilities to camouflage and
selective pressures in their environments.
Another example would be the GIRAFFE, which
selected for long necks instead of short or
average-length necks to feed from high trees.

In stabilizing selection, only the variant of


AVERAGE FORM is selected. Those considered
„extreme‟ for the trait are selected against.
In this case, ROBINS that lay eggs in fours are the
ones with the highest chance of survival. Too few
means less would survive and too many would
lead to OVERCOMPETITION..
Another example of this would be the Siberian
husky, which must have enough muscle to move
quickly but light enough to stay on top of snow.

In disruptive selection, both extremes of the trait


are selected over the one with average form.
In this case, male CHINOOK SALMON compete
to fertilize the females‟ eggs. Large fish will be
competitive fighters while smaller fish can
fertilize the eggs while evading fights. The
average-sized salmon is at the disadvantage here.
Another example is the HIMAYALAN RABBIT,
where both black and white rabbits can
camouflage easily against rocks, but grey ones
cannot.

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5.4 & 5.5: Discuss the biological species concept and explain the process of speciation.

WHAT EXACTLY IS A SPECIES?

At O‟ Level, you would have learnt that two members of the same species:

- Have very similar PHYSIOLOGICAL and GENETIC characteristics


- Are able to INTERBREED and produce FERTILE offspring

This is known as the BIOLOGICAL SPECIES There exists one major limitation with rigidly
CONCEPT and has been used to classify sticking with this concept, however: It only
organisms into different taxa quite successfully, applies to organisms that reproduce
with each species being given their own SEXUALLY. It also cannot be used to classify
binomial name, e.g. Canis lupus, Ursus arctos, organisms that are EXTINCT. By definition, it
Leo panthera and Homo sapiens. also includes inbreeding, which reduces vigour.

This is where an alternate method exists called the PHYLOGENETIC SPECIES CONCEPT. In this
method, organisms are classified according to certain defining traits or MORPHOLOGY. This is used to
trace a „genetic history‟ of the organism, tracing back to its common ancestors.

One major limitation with this method, however, is dealing with species that demonstrate
POLYMORPHISM, or having many different forms that can be mistaken for different species. Both
white and dark variants of the peppered moth, for example, could easily be mistaken as two separate
species just by looking at them.

Feature Biological Species Concept Phylogenetic Species Concept

Inclusion of species Limited to species that reproduce Includes all species.


SEXUALLY.

Organizational Rigorous and organized. Clear-cut Error-prone method. Classifications based on


Integrity definitions of each species. morphology and common inherited traits.

Extinct species Cannot be used to classify extinct Can be used to classify extinct species and
species and fossils. fossils.

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WHAT IS SPECIATION?

Speciation, put simply, is the formation of a new When isolation occurs, various groups of the
species or when two or more species branch out same species may be subjected to different
from a common ancestor. This usually occurs SELECTIVE PRESSURES and would have to
due to a mechanism known as ISOLATION, ADAPT to varying circumstances. After a while,
which sets up different kinds of barriers that no GENE FLOW will occur between the
prevent members of a species from interacting. splintered populations and each population will
These barriers can be geographical, behavioural evolve into a new species.
or even based on times of sexual maturity.

Type of Barrier Description Example

GEOGRAPHICAL Occurs when two species are Darwin‟s finches were separated from each
PHYSICALLY SEPARATED by a other by living on different islands in the
large mass, such as an ocean or Galapagos. Gene flow was not possible.
mountain. Leads to ALLOPATRIC speciation.

ECOLOGICAL Occurs when two species live in the Red-legged frogs and American bullfrogs
same area but RARELY OR NEVER live in the same ecosystem. However, red-
MEET. legged frogs dwell in streams while bullfrogs
breed in ponds.

BEHAVIOURAL Occurs when two species have Eastern and western meadowlark birds have
different COURTSHIP behaviours. different mating calls. Different species of
fireflies have different lighting signals.

MECHANICAL Occurs when the two species are It is unlikely for white sage and black sage to
incompatible, either in terms of size, form hybrids in the wild as they are
genitalia or GAMETES. pollinated by two different types of bees.

TEMPORAL Occurs when two species live in the Some cicadas tend to have 13-year cycles
same place but experience different while others have 17-year cycles. It is rare
TIMES of sexual maturity. that these sync up for them to mate.

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ALLOPATRIC SPECIATION

Recall GEOGRAPHICAL isolation, where species will form splinter groups due to a separation by a land
mass, such as a mountain. The presence of this mountain means that the groups will not meet and thus,
will not mate. On either side of the mountain, there may be different selective pressures, such as different
coloured trees, terrain, predators, rainfall. Each member must now adapt to these pressures. This
geographical barrier will thus cause new species to arise.

This is called ALLOPATRIC SPECIATION. Examples include:

- DARWIN‟S FINCHES being physically separated by the water masses between islands.
- The PORKFISH and PANAMIC PORKFISH being separated by the isthmus of Panama.
- The KAIBAB, a subspecies of the ABERT squirrel live on opposite ends of the Grand Canyon.

SYMPATRIC SPECIATION

Whereas allopatric speciation deals with speciation arising in two geographically separated areas,
SYMPATRIC SPECIATION occurs when there is no geographical separation. If organisms living in
the same habitat, for example, can somehow overcome their temporal, ecological or behavioural barriers,
they may undergo sympatric speciation.

Examples include:

A species of fruit fly in North America named R. pomonella Sometimes some wild wheat plants can randomly
usually fed and laid their eggs on hawthorn berries. However, double their chromosome number. These are
after apples were introduced in the 1800‟s, some began laying called POLYPLOIDS. These polyploids are
eggs in apples. These populations are becoming increasingly usually sterile but some can thrive and fertilize
distinct from each other and will one day undergo speciation. each other.

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MODULE THREE – REPRODUCTIVE BIOLOGY

THIS MODULE CONTAINS TWO TOPICS:

1. REPRODUCTION IN PLANTS
2. REPRODUCTION IN ANIMALS

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TOPIC 1: REPRODUCTION IN PLANTS

1.1 & 2: Describe the structure of the anther and the formation of pollen grains; and the structure of the
ovule and formation of the embryo sac

REPRODUCTION IN FLOWERING PLANTS

Flowering plants are also called Male gametes are formed within the POLLEN
ANGIOSPERMS. They contain reproductive grains, found in the ANTHERS, while female
organs, which produce sex cells called gametes are found within EMBRYO SACS,
GAMETES, similar to animals. These gametes, found inside of the OVULE.
both male and female, are HAPLOID in nature,
meaning they contain half the number of
chromosomes. Unlike sperm cells in animals, pollen
grains are not MOTILE and thus
require an external agent to transport
them. When these grains are deposited
on the STIGMA of a flower, this is
called POLLINATION. When the
male and female gamete fuse, this is
called FERTILIZATION, though this
requires a sequence of steps to occur.

The petals of a colour serve to attract


birds and insect, which may assist as
agents of pollination. The entire whorl
of petals is called the COROLLA.

The sepals serve to protect the flower


in the bud phase. The entire whorl of
sepals is known as the CALYX.

Reproductive Parts Comprises of Notes

STAMEN Anther Contain male gametes within pollen grains.


(androecium)
Filament Supports the anther.

PISTIL Stigma Capturing pollen grains during pollination.


(gynoecium)
Style Supports the stigma.

Ovary Contains female gametes, found in embryo sacs in


ovules.

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THE MALE PARTS OF THE FLOWER

As previously stated, the male gametes are formed inside pollen grains. These pollen grains are formed
from MICROSPORANGIAL cells found within four pollen SACS in the ANTHER of the flower.
Observe the micrograph and table below for the placement and roles of the various structures within the
anther:

Key Structure Function

Fibrous Layer Thickened cellulose walls. Eventually separates to release pollen grains.

Tapetum Inner layer of pollen sac that provides nutrition to developing grains.

Stomium The point at which dehiscence occurs, to release the pollen grains.

Pollen mother cell Diploid. Divide by meiosis to produce four haploid gamete nuclei.

Formation of pollen grains occur when a POLLEN MOTHER CELL undergoes MEIOSIS to form a
TETRAD of haploid cells called MICROSPORES. These then undergo MITOSIS to form two types of
nuclei within each, eventually maturing to form the protective walls of the pollen grain.

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The pollen grains contain two walls, an outer water proof


EXINE (containing a polymer called sporopollenin) and inner
INTINE (usually containing enzymes), and two haploid nuclei,
called the TUBE nucleus and GENERATIVE nucleus.

The generative nucleus would undergo MITOSIS to form TWO


MALE GAMETE NUCLEI. The tube nucleus will eventually
form the POLLEN TUBE, which would be used to deliver those
gametes to the female structure.

THE FEMALE PARTS OF THE FLOWER

The female gametes are formed inside embryo sacs. These are located within the ovules and are formed
from MEGASPORANGIAL cells. Observe the diagram and table below for the placement and roles of
the various structures within the ovule:

Structure Role / Description

Funicle Stalk-like connection point between ovule to ovary.

Integuments Develop into seed coat or testa.

Micropyle Allows passage of pollen tube during fertilization.

Antipodal Nourishes the embryo sac and endosperm. Located at


cells chalaza, opposite to synergids.

Synergids Directs pollen tube growth to egg cell.

Polar nuclei Becomes the endosperm nucleus after fertilization.

FORMATION OF FEMALE GAMETE

The diploid MEGASPORE MOTHER CELL in the


ovule undergoes MEIOSIS to produce a TETRAD of
haploid megaspores. However, only one remains
functional. The others degenerate.

The functional megaspore continuously undergoes


MITOSIS and eventually forms the EMBRYO SAC
of eight haploid nuclei.

Six nuclei migrate to the poles of the


embryo sac to form the antipodals and
the synergids, one of them functioning
as the EGG there. Two polar nuclei
remain, which will fuse with a sperm
cell to form the ENDOSPERM nucleus.

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1.3 & 1.6: Explain the sequence of events from pollination to fertilization; and the significance of double
fertilization in the embryo sac.

HOW DOES POLLINATION OCCUR? Pollination is the transfer of pollen from the anther to the
stigma. Flowers that exhibit AUTOGAMY are SELF-
POLLINATED (within the same flower, or between two
flowers of the same plant) and flowers that exhibit
ALLOGAMY are CROSS-POLLINATED (between two
flowers of different plants).

CLEISTOGAMOUS flowers are non-opening and


promote self-fertilization, e.g. peas and pansies.

It was previously noted that pollen grains require agents


to move. Typically, flowers that have brightly coloured
petals, and pollen or nectar rich in nutrients, will attract
INSECTS. Some even produce sex hormones called
PHEROMONES, such as orchids.

Those that have relatively dull and small petals and no scent, but have long filaments that extend out of
the flower will likely be pollinated by WIND. These types produce vast amounts of light pollen grains
and have feathery stigmas for them to attach.

WHAT HAPPENS TO THE POLLEN GRAIN AFTERWARDS?

Recall that in the pollen grains in the anther, there were TWO nuclei. One was the GENERATIVE
nucleus and the other was the TUBE nucleus. The generative nucleus divides by mitosis into two haploid
male GAMETES, while the TUBE nucleus allows the growth of a structure called a POLLEN TUBE.

So what is happening here? If the pollen grain


is compatible with the stigma, it will begin to
germinate. The pollen tube uses SUCROSE
and develops as digestive enzymes are
secreted. This is called CHEMOTAXIS. This
allows the tube to grow in a downward fashion
along the STYLE and towards the ovule.

The two male gametes will follow the path of


the pollen tube as it enters the MICROPYLE
and to the synergids, where the EGG is located.

One gamete fuses with the egg, forming the


ZYGOTE. The other fuses with the primary
nucleus to form the ENDOSPERM
NUCLEUS. What is notable is the endosperm
nucleus now has three sets of chromosomes
(3n) and is now considered TRIPLOID.

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That might have been a lot to take in! So let‟s recap the various parts involved:

Structure Chromosome No. Notes

Generative nucleus n Divides by mitosis to form two male gametes (n)

Tube nucleus n Enables and regulates growth of pollen tube to carry gametes.

Primary nucleus 2n Formed in embryo sac after two haploid nuclei fuse. In centre.

Egg cell n Found among synergids in embryo sac. The female gamete.

Zygote 2n Formed after first male gamete fuses with egg.

Endosperm nucleus 3n Formed after second male gamete fuses with primary nucleus.

1.4 & 1.5: Explain how cross-fertilization is promoted; and genetic consequences of sexual reproduction

ENSURING THAT CROSS-FERTILIZATION OCCURS

There are numerous reasons why some flowers or florists will want to allow self-pollination and self-
fertilization to occur (also called INBREEDING), as desirable traits can be predictably passed down
along generations and the flowers can be produced in very large numbers at a rapid rate. This happens
very easily with HERMAPHRODITIC plants, which mean they have both male and female parts.

However, it is highly advantageous to a plant species if


different members fertilize each other (called
OUTBREEDING).

- It ensures DIVERSITY of the species, having a


variety of alleles among members.
- This increases the chances of the plant having
RESISTANCE to factors such as pathogens and
allows EVOLUTION to occur.

As a result, plants have developed certain outbreeding mechanisms to help


them prevent the negative effects of self-fertilization and ensure diversity of
the species.

In the top diagram, the plant has a genotype ascribed S1S2. The pollen grains
containing either the S1 or S2 allele are incompatible with the stigma and will
not germinate on this flower. This is called SELF-INCOMPATIBILITY.

In the one to the left, notice that there are two different types of flowers (pin
and thrum). Primroses are like this. It is difficult for pin flowers to self-
pollinate due to the stigmas being higher than the anthers.

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Outbreeding Mechanism How it Works Examples

Dioecious plants (Dioecy) Male and female flowers of the same species are found Dioecious: Chenet, paw-
on separate plants, making self-pollination difficult. paw, marijuana
In monoecious plants, male and female flowers are
Monoecious: Pumpkin,
located on the same plants.
maize, castor oil

Protandry and protogyny Either stamens mature before the stigmas (protandry) or Protandry – Fireweed
stigmas are receptive to pollen before release (protogyny)
Protogyny – Soursop,
avocado

Self-incompatibility The pollen with the same genetic code as the stigma of Tobacco, cabbage
the same flower will not germinate if contact is made.

Heterostyly The various forms of the flowers‟ reproductive organs Primrose, red cordia
make it difficult for self-pollination to occur due to
stigma and anther position. See previous page.

1.7: Discuss the development of the seed and the fruit from the embryo sac and its contents.

EMBRYONIC DEVELOPMENT IN SEED

From the diagram, the following steps can be observed:

1. The zygote begins dividing by mitosis. A smaller TERMINAL cell is formed, with the initial zygotic
cell being called the BASAL cell. Surrounding the zygote is the ENDOSPERM, which nourishes it
and allows development to occur.

2. As mitosis continues, the terminal cells


keep dividing until they form a „belt‟ called a
SUSPENSOR. At the end, the first terminal
cell keeps dividing in a globular manner to
form the EMBRYO.

3. Embryonic shoots and roots, and


cotyledons begin to develop and grow from
meristematic tissue. As these structures grow
and nutrients are continuously absorbed, the
\
endosperm tissue is depleted.

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After fertilization occurs, the embryo sac and the ovule begin to undergo numerous changes as the ovary
becomes a fruit and the ovules become seeds. The table below will list some of those changes:

Part of Flower Post-Fertilization Structure

Egg cell Becomes a ZYGOTE (2n) and then undergoes mitosis to become an EMBRYO.
When this occurs, multiple structures develop such as a root (RADICLE), embryo
shoot (PLUMULE) and first leaves (COTYLEDONS).

Ovule Becomes a SEED, still attached to the parent plant.

Integuments Becomes the seed coat or TESTA as it becomes thickened and waterproof with
lignin and cellulose.

Petals Wither and fall off, along with the sepals. Exceptions include dandelions.

Endosperm nucleus Becomes the ENDOSPERM after mitosis, which nourishes the embryo during
germination, usually high in proteins and starches.

Ovary and ovary wall The ovary becomes the FRUIT and the wall becomes the PERICARP, the „flesh‟
of the fruit. The pericarp usually has some role to play in seed dispersal.

1.8: Discuss the advantages and disadvantages of asexual reproduction.

WHAT IS ASEXUAL REPRODUCTION?

Asexual reproduction is defined as the It is important to distinguish asexual


production of new offspring by ONE parent reproduction from self-pollination, as the latter
through the process of MITOSIS. The offspring involves the production and fusion of gametes
are genetically identical to their parents or from male and female parts and is thus
CLONES. considered SEXUAL reproduction.

Aspect Self-pollination Asexual reproduction

Type of cell division Meiosis Mitosis

Crossing over Present, but limited None. Offspring are clones.

Seed production Present Absent

Method of reproduction Fertilization or fusion of Vegetative structures such as rhizomes


gametes and tubers; processes such as budding
and fragmentation.

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WHAT ARE THE ADVANTAGES AND DISADVANTAGES OF ASEXUAL REPRODUCTION?

Advantages Disadvantages

Offspring remain well-adapted to a non-changing Due to lack of genetic variation, pathogens and
environment as all traits are inherited from parent diseases may be able to spread very quickly through
organism. populations.

Rapid growth of population can occur since only Overcompetition may occur, either among offspring or
one parent is needed and no gestation period. New between parent and offspring, especially in plants due
habitats can be colonized quickly. to being in close proximity.

Offspring may be able to utilize parent as a nutrient Very low genetic diversity can lead to lack of
source during the early stages of life. evolutionary changes in species.

MECHANISMS OF ASEXUAL REPRODUCTION IN PLANTS

Mechanism Explanation Illustration

Budding The Bryophyllum plant shown


produces numerous adventitious
leaves, which can grow into new
plants when they fall off.

Fragmentation The plant splits into fragments,


which can each develop into a
mature clone, identical to the
parent.
In ginger, a rhizome, meristematic
buds can grow into new ginger
plants when pieces are broken off.

Spore production and The fungus Penicillium develop


binary fission aerial hyphae. Mitosis occurs to
produce “conidiospores” at the tips
(called conidiophores). The spores
germinate and differentiate to form
new fungi. Red algae is another
example of this reproduction type.

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METHODS OF VEGETATIVE PROPAGATION

Vegetative propagation is the process of producing plant offspring on a large scale, taking advantage of
the facets of asexual reproduction. This is usually done for commercial purposes and can be done with the
use of cuttings and tissue culture.

Cuttings

Cuttings are usually done for crops such as sugar


cane. Stems are broken off and lain horizontally
on soil. After a period of time, buds grow into
new stems and adventitious roots grow from the
leaf scars. It happens quickly as no
POLLINATING AGENT is needed, so the crop
is quite profitable.

For other plants (African violets, for example),


the cutting is made on the stem and is plced in a
medium containing a growth hormone such as
AUXIN, which stimulates root growth. The
plant can then be transferred to soil.

Tissue culture

Tissue culture is more frequently used in large scale production and can be done in a laboratory at any
location. Plant tissue is differentiated from animal tissue in that they are able to produce other cell types
(similar to stem cells). Because plant tissue can do this, they are said to exhibit TOTIPOTENCY.

A meristematic clump of cells called an EXPLANT is removed from the parent and placed in a STERILE
nutrient solution (usually high in sucrose, Vitamin B, nitrates and mineral ions) containing AUXIN and
CYTOKININ, hormones that stimulate cell growth and division. Sterility is key to prevent infection by
pathogens and fungi. The explants then undergo mitosis to form larger clumps called CALLUSES. When
the plant is at a certain point of development, they are transplanted into sterile soil.

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TOPIC 2: REPRODUCTION IN ANIMALS

2.1&2: Describe the structure & function of the male & female reproductive systems; and gametogenesis

STAGES OF HUMAN REPRODUCTION

Stage Description

Gametogenesis The production of male (spermatogenesis) and female (oogenesis) gametes.

Ovulation The release of a secondary oocyte (not ovum) from the ovary.

Copulation / Coitus The act of intercourse, where male gametes are delivered to the female gametes.

Fertilization The fusion of the nuclei of the male and female gametes.

Implantation The action of the early embryo sinking into the endometrium.

Gestation The period between conception and birth, where foetal development occurs.

Parturition The final stages of pregnancy, involving labour and childbirth.

THE MALE REPRODUCTIVE SYSTEM The urogenital system of the male is


depicted here, which combines the urinary
and reproductive systems. The production of
sperm begins in the TESTES, where diploid
cells form haploid cells by MEIOSIS.

Within the testes are SEMINIFEROUS


TUBULES, where spermatogenesis occurs
within the walls, from the epithelium.

A hormone, TESTOSTERONE, is secreted


by the LEYDIG cells in the testes to
stimulate sperm production.

The prostate gland, seminal vesicles and Cowper‟s glands are all involved with SEMEN production. The
scrotum is kept external to the body as sperm production is optimum at a slightly COOLER temperature.

Remember that semen and sperm are two different things. The semen is simply the nourishing and transport
medium for the spermatozoa. A man has the ability to ejaculate semen which contains no spermatozoa, in which
he is said to be infertile.

The male urethra is notable as being much longer than the female urethra, making urinary tract infections less
likely for men. The female urethra is separate from the female reproductive tract.
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SPERMATOGENESIS (Formation of Sperm Cells)

Recall that for gametes to be produced, diploid cells must divide by meiosis to produce haploid cells. So
where does this occur?

Our focus will be on the diagram to the right, within the the lumens of the seminiferous tubules within the
lobules of the testes. These are usually convoluted structures, where spermatogenesis take place. Special
large cells called SERTOLI cells help “nurse” or nourish the cells and regulate the process.

Spermatogenesis begins at a layer of cells called SPERMATOGONIA placed along the outer wall (called
the germinal epithelium). These divide by mitosis and grow into larger structures called PRIMARY
SPERMATOCYTES.

The diploid primary spermatocytes divide by MEIOSIS to now to first become haploid SECONDARY
SPERMATOCYTES and then into SPERMATIDS. Spermatids will then grow a tail-like structure as they
specialize to become SPERMATOZOA, the male gametes.

The micrograph to the right is of a TS of a


seminiferous tubule. State which parts the
numbers represent.

1 – Spermatozoa

2 – Spermatid

3 – Primary spermatocyte

4 – Spermatogonia

5 – Sertoli cell

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THE FEMALE REPRODUCTIVE SYSTEM

There are a few idiosyncrasies when it comes to the production of female gametes (oogenesis). You may
have learnt at O‟ Level that the egg cells (or ova) are released from the ovaries during ovulation. This is
not entirely true as the actual structure that is released is a precursor to the ovum, called a SECONDARY
OOCYTE.

When ovulation occurs, the oocyte is pushed


along the Fallopian tubes by cilia. If
fertilization occurs, then the zygote will be
implanted on the ENDOMETRIUM, where
it will grow structures to exchange materials
with the mother during pregnancy, or
GESTATION.

During PARTURITION or childbirth,


contractions occur along the
MYOMETRIUM, which help push the
foetus through the cervix and the vagina.
OOGENESIS

In order to understand what is happening during oogenesis, we should look at a cross-section of the ovary.
There are notable similarities and differences when compared to spermatogenesis. For example, haploid
cells are produced during meiosis and the process begins along germinal epithelial cells in the ovaries.
However, this begins when the girl is an embryo instead of at puberty, like a boy.

A layer of cells called OOGONIA begin to divide by


meiosis to form a large number of PRIMARY
OOCYTES. Remember this happens before birth.

The process suddenly stops at PROPHASE I and only


continues at puberty, where two haploid cells are
produced. One is a POLAR BODY, which degenerates.
The second, much larger, is a SECONDARY OOCYTE.

Meiosis continues but stops again at METAPHASE II.


The process resumes after the secondary oocyte is
released during ovulation and fertilized. It will finish the
meiotic division to form the OVUM and another polar
body, which degenerates as well.

Therefore, strangely enough, the ovum actually forms in


the Fallopian tube AFTER fertilization.

Structures called FOLLICLES are formed within the


ovary, which gradually mature. When ovulation occurs,
the follicle ruptures leaving behind a CORPUS
LUTEUM, which secretes PROGESTERONE, allowing
the endometrium to thicken.

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2.3: Discuss how the structure of the ovum and the sperm facilitate their functional roles in fertilization.

First, let‟s recap some facts and comparisons about spermatogenesis and oogenesis.

Aspect Spermatogenesis Oogenesis

Occurs where? Seminiferous tubules in testes Mostly in ovaries

Forms what? 4 spermatozoa. 1 secondary oocyte and 2-3 much smaller polar
bodies.

Timeline Starts at puberty and continues into old Starts when female is a foetus, then stops.
age. Uninterrupted until death. Resumes at puberty and an egg is released
monthly. Terminates at menopause.

Production rate About 200 million sperm daily, fully Releases one secondary oocyte every menstrual
matured. cycle.

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The role of spermatozoa is to transport the male genetic


GAMETE STRUCTURE material to the female gamete. The two gametes will
eventually fuse to become the zygote. It is notable that the
only part that enters the female gamete‟s cytoplasm is the
NUCLEUS.

The head contains an ACROSOME, loaded with hydrolytic


ENZYMES which is used to digest a path into the female
gamete during fertilization.

The neck of the sperm cell has CENTRIOLES that help


form the FLAGELLUM, which is comprised of several
MICROTUBULES (the central strand called the
AXONEME), which allow the sperm to be motile and to
swim to the female gamete. Sperm cells are only about 3µm
wide but more than 50µm long.

This uses ATP, which is supplied by the MITOCHONDRIA


in the middle piece of the sperm. It is notable that sperm
have NO FOOD RESERVES.

The secondary oocyte is significantly larger than the


spermatozoa, being about 100µm in diameter. This serves to
make them non-motile and allows slow passage through the
oviduct after ovulation.

Their NUCLEUS contains half of the maternal DNA, while the


POLAR BODY, still attached, contains the other half. The
polar body will degenerate after fertilization, however, and
itself cannot be fertilized.

The cytoplasm of the oocyte has a food source in the form of


LIPIDS to allow survival before implantation. Mitochondria are
also present to facilitate development of gamete.

The plasma membrane of the egg cell is also different as it is


folded into MICROVILLI, which may help with adhesion to
incoming sperm. It contains a ZONA PELLUCIDA, consisting
of glycoproteins, and a CORONA RADIATA, consisting of
granulosa (follicle) cells which the sperm must penetrate.

In the ovarian follicle, surrouding the oocyte, is an fluid-filled


ANTRUM, which provides nourishment. Directly outside of
the zona granulosa are THECA cells, which stimulate synthesis
of oestrogen.

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Some key comparisons between the two gametes:

Aspect Spermatozoa Secondary oocyte

Size Head is about 3µm wide and tail is 50µm About 100µm in diameter. Much larger.
long. Much smaller.

Motion Motile, due to flagellum. Non-motile.

Nucleus Haploid. Can contain either X or Y sex Haploid. Only contains X chromosomes.
chromosomes.

Food source Very limited. Considerably more. Has lipids in cytoplasm.

Membranes Plasma membrane around head with Has multiple layers: a plasma membrane with
glycoproteins that support union with microvilli, glycoprotein-rich zona pellucida and
oocyte. corona radiata.

Meiotic stage Already completed meiosis II upon Only completes meiosis II after fertilization to become
release. ovum.

2.4: Discuss the basic process of fertilization.

FERTILIZATION

The basic definition of fertilization is the fusion of the nuclei of both male and female gametes.
Fertilization takes place in the OVIDUCT. Sperm are ejaculated during coitus, caused by the stimulation
of nerves along the vasa deferentia and muscular contractions push sperm out of the urethra. The sperm
use semen as a medium, a fluid containing CALCIUM ions, CITRATE and FRUCTOSE.

Over time, uterine enzymes HYDROLYSE the plasma


membranes of the sperm cells, as well as removing cholesterol.
This puts the sperm into a state of CAPACITATION, allowing
them to swim faster and prepares the ACROSOME for eventual
penetration of the oocyte.

Upon contact with the oocyte, the ZONA PELLUCIDA


stimulates the release of enzymes from the acrosome. As soon as
this occurs, lysosomes in the oocyte change its protein structure
so that it becomes an impermeable FERTILIZATION
MEMBRANE. This is called the CORTICAL REACTION.

MEIOSIS finally completes and the polar body helps discard the
other set of chromatids. The male and female gamete nuclei fuse
to form a diploid zygote.

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2.5, 2.8 & 2.9: Discuss the process of implantation; the structure & functions of the placenta and amnion.

IMPLANTATION

When the zygote forms, it continuously divides by MITOSIS to form a ball of cells known as a
BLASTOCYST. The blastocyst moves along the Fallopian tube due to contractions along its muscular
wall and with help from cilia. It will finally reach the uterus, where it will attach itself to the lining of the
uterus wall, or ENDOMETRIUM. It is now said to have been implanted.

Specialized cells lining the surface of the blastocyst called


TROPHOBLASTS allow this to occur. They secrete
enzymes to digest a „nook‟ into the endometrium, similar to
what the pollen tube or acrosome do, but the blastocyst does
not burrow far under.

The trophoblast cells undergo mitosis and specialize to form


CHORIONIC VILLI, which project into the endometrium,
and blood-filled INTERVILLOUS SPACES. At this point,
the structure contains tissues from both the mother and the
blastocyst. It is now called the PLACENTA.

As the embryo develops into a FOETUS, other extra-


embryonic membranes form and fuse to the chorion, such as
the AMNION, YOLK SAC and ALLANTOIS.

Placental function Notes

Gas exchange Villi in the CHORION help


oxygen flow from the
maternal blood to the foetal
blood at the
INTERVILLOUS SPACES.

Nutrient and CHORION facilitates


antibody intake diffusion of glucose and
amino acids. Active transport
of ions. Nutrients stored in
YOLK SAC.

Waste transfer Allantois helps remove


excreta from kidneys.

Blood pressure Reduces maternal blood


regulation pressure to avoid
jeopardizing foetus.

NOTE: It is notable that the umbilical veins


are oxygenated and umbilical arteries are
deoxygenated.

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AMNION AND PROTECTION

The amnion is a fluid-filled membrane that encloses the


embryo and acts as a SHOCK ABSORBER, meaning that it
protects it from physical damage.

It also helps with regulation of the foetus‟ TEMPERATURE,


due to water‟s high specific heat capacity. Similar to the
placenta, it plays roles, though to a smaller extent, in nutrient
intake and waste transfer. Since the foetus can swim in the
fluid, it allows skeletal development to occur.

Amniotic fluid can also be located inside the foetus, allowing


movement of nutrients along the alimentary canal. It should be
noted that the placenta also plays a role as a partially permeable
barrier, preventing intermingling of foetal and maternal blood
and even offering some protection against MATERNAL HIV.

2.6: Discuss the importance of hormones in gametogenesis and the menstrual cycle.

Before we discuss the intricate systems that these hormones belong to, let‟s summarize them:

Hormone Source Role

GnRH Hypothalamus Stimulates release of LH and FSH.

FSH Pituitary Stimulates growth of eggs; regulates sperm production.

LH Pituitary Stimulates ovulation; release of gonadal hormones (e.g. oestrogen)

Oestrogen Gonads Stimulates LH production; secondary sex characteristics

Progesterone Gonads Maintains lining of uterus for implantation; produced by corpus luteum

Testosterone Gonads Stimulates sperm production; secondary sex characteristics

Inhibin Testes Inhibits the release of GnRH, thus also inhibiting release of FSH and LH.

hCG Blastocyst Stimulates continuous progesterone production; recognition of pregnancy

Prolactin Pituitary Lactation (production of breast milk)

hPL Placenta Lipolysis to provide nutrients for foetus. May result in gestational diabetes

DMPA and Progestin Synthetic Prevents ovulation or thickens cervical mucus. Used for birth control.

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HORMONAL CONTROL OF GAMETOGENESIS

Spermatogenesis

Gonadotropin-releasing hormone (or GnRH) stimulates


production of two other hormones, LH and FSH. LH
binds to receptors on the LEYDIG cells in the TESTES
to secrete TESTOSTERONE and begin
spermatogenesis. FSH binds to the SERTOLI cells,
making them more receptive to testosterone.

There is a NEGATIVE FEEDBACK system involved


to regulate testosterone concentration in the blood.
Sertoli cells also release another hormone known as
INHIBIN that inhibits release of FSH.

This means that less FSH and LH are produced as a


result, thus preventing testosterone levels from rising
Oogenesis too high.

The steps involved in oogenesis are, in some ways,


similar to spermatogenesis. GnRH is still involved,
stimulating the release of LH and FSH. As LH and
FSH levels rise, a layer of cells surrounding an ovarian
follicle known as a THECA secretes OESTROGEN.

Oestrogen acts similar to inhibin in its capacity as a


negative feedback mechanism, in that it inhibits release
of GnRH, LH and FSH.

However, it also plays a role in


POSITIVE FEEDBACK, as very
high levels cause a surge in LH. This
allows the mature Graafian follicle to
rupture and release the
SECONDARY OOCYTE into the
oviduct. This is OVULATION.

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HORMONAL CONTROL OF MENSTRUATION


NOTE ON PREGNANCY

: Keep in mind that a large


amount of progesterone is
being secreted by the corpus
luteum. When the corpus
luteum decays, the levels
severely drop, resulting in
menses.

If a woman becomes pregnant,


the progesterone levels
REMAIN HIGH. This is due to
another hormone called
HUMAN CHORIONIC
GONADOTROPIN (or hCG)
being released from the
blastocyst.

hCG ensures that menses does


not take place while the embryo
is being implanted. It is notable
as the hormone tested for in a
PREGNANCY TEST.

Observe the diagram above, as it correlates hormonal activity to the development of the follicle and
changes in the uterus during the menstrual cycle. Here, we will break it down the timeline:

 Day 6 – 14 – FOLLICULAR PHASE – The presence of FSH and LH triggers the release of
OESTROGEN from the ovarian THECA. As oestrogen levels rise, this causes a positive feedback
effect and a surge in LH. Oestrogen levels plummet as GnRH is inhibited.

 Day 14 – This surge in LH triggers OVULATION, causing the follicle to rupture and secondary
oocyte to release. The ruptured follicle becomes a CORPUS LUTEUM.

 Day 14 – 28 – LUTEAL PHASE – The corpus luteum secretes PROGESTERONE to keep the
uterus lining thick for implantation. If pregnancy does not occur, the corpus luteum decays into a
scar called a CORPUS ALBICANS. Oestrogen and progesterone levels decrease.

 Day 0 – 6 – MENSES then occurs as the uterus lining sheds. The drop in the gonadal hormones
causes a slight increase in FSH and LH, restarting the cycle.

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2.7: Discuss how knowledge of human reproductive anatomy and physiology has been applied to the
development of contraceptive methods;.

WHAT IS BIRTH CONTROL?

Birth control, you would have learnt, involves methods of preventing pregnancy from occurring. We can
class birth control into two categories:

 CONTRACEPTION - which prevents fertilization of the egg.


 ANTI-IMPLANTATION - where fertilization occurs but the blastocyst cannot be implanted on
the endometrium.

Contraceptive Method How it works Extra notes

Barriers (e.g. condoms, They create an impermeable physical Most popular method, though some
femidoms and diaphragms) barrier that prevents sperm cells from say they reduce pleasure. Also
entering the vagina or uterus. As a prevents transmission of STI‟s. More
result, no contact can be made with effective when used with a
the egg. SPERMICIDAL CREAM.

Progestin implants A rod-shaped device is implanted in Does not protect against STI‟s.
the uterus. It releases synthetic Works similarly to birth control pills.
progestin into the blood, which
inhibits ovulation.

Depo-Provera (DMPA) A synthetic hormone that is injected Also used to treat menopausal
into the body every 3 months. Acts symptoms.
similar to the implants.

Oral contraceptives (birth Usually contain synthentic oestrogen The “mini-pill” thickens cervical
control pills) and progesterone to mimic pregnancy mucus, preventing the sperm from
and suppressing ovulation. entering.

Sterilization The vasa deferentia of the men are cut Is 100% effective, so patients must
and tied, preventing sperm from be certain they want no more
entering the urethra. Or the oviducts children.
are cut and tied (tubal ligation).

Filshie clips A device that is clipped across each Reversal of ligation more likely to be
oviduct during tubal ligation. successful when this is implemented.
But there are infectious risks if the
clip opens or migrates.

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Anti-Implantation Method How it works Extra notes

Emergency contraception or Various types exist. The mechanism Despite its name, many of them can
the “morning after” pill of action usually involves delaying be taken from 3 – 5 days after and
ovulation or causing changes in the certainly just in the morning.
endometrium that limit implantation. However, success increases when it
is taken closer to period of coitus.

Intra-uterine devices (or A T-shaped device made of copper Copper is toxic to the sperm as well,
IUD‟s) and plastic that is inserted into the so it can be seen as a contraceptive
uterus by a physician. It stimulates method as well.
immune responses in the uterus to
attack the sperm or embryo.

There are usually ethical debates about birth control. The table below summarizes some of the arguments
that are pro and con:

For Against

It is an effective way to reducing population Anti-implantation methods can be seen as a „legalized‟

growth, especially in overcrowded countries that method of abortion, for those who are pro-life.

lack resources.

Can be seen as a way to reduce the need for clinical May be seen as a stimulus for pre-marital sex and

abortions and unwanted pregnancies, which could promiscuity, especially in teenagers and young adults, due

lead to child neglect and depriving young parents of to the easy availability of condoms.

future opportunities.

Allows either partner to maintain control of their Some methods may have physiological risks such as birth

bodies if the other wishes not to use birth control, control pills, or may cause infection if not done correctly,

especially during pre-marital sex. such as Filshie clips.

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2.10: Discuss the possible effects of maternal behaviour on foetal development.

PRE-NATAL CARE

Pre-natal or post-conceptual care refers to the behaviours or routines that a mother should adopt to
reduce the incidence of ill health or hindrance to development of the foetus. Before pregnancy, however,
the mother should ensure that she has the RUBELLA vaccine, as rubella can be fatal for the foetus. The
table below will summarize the main points of pre-natal care:

Category Crucial Components/Concerns Notes

Diet and Nutrition Folic acid (cereals, dairy, cabbage, Helps develop the neural tube of
kale, spinach, bananas) foetus. Without it, the foetus can
suffer from SPINA BIFIDA.

Lipids (dairy, oily fish) Formation of nerve cells and cell


membranes. Energy source.

Iron (beans, meat, eggs) Formation of haemoglobin.

Calcium, phosphorous (dairy, bony Formation of bones.


fish)

Avoiding foods that are precooked or May contain Listeria bacteria, which
unpasteurized milk infect foetus.

Avoiding alcohol Reduced growth and development Undeveloped limbs, reduced muscle
tone, heart defects

Cleft palate A split in the mouth‟s roof.

Foetal alcohol syndrome (FAS) Lifelong mental impairment.

Rhesus factor If the mother is Rh-negative then she Without the anti-Rh antibodies, the
should be injected with anti-Rh mother‟s own antibodies will attack
antibodies if she has a Rh-positive the Rh-positive foetus.
foetus.

Smoking, one of the worst offenders of foetal malformation, will be discussed in the next page.

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THE EFFECT OF SMOKING ON PREGNANCY

Keep in mind that whatever the mother takes into her bloodstream will transfer to the foetal bloodstream
via the chorion and umbilical cord connected to the placenta. Tobacco cigarettes contain a massive
number of chemicals that have detrimental effects to the human body. So we‟ll look at the impact of three
of the main components: nicotine, carbon monoxide and tar.

Component Effect on Human Body

Nicotine - Is a STIMULANT and so increases BLOOD PRESSURE.


- Causes the foetus‟ blood vessels to CONSTRICT, thus reducing the
flow of OXYGEN to the tissues.
- Baby can be born with an ADDICTION and experience harmful
WITHDRAWAL symptoms shortly after birth.

Carbon monoxide (CO) - Binds to HAEMOGLOBIN to form CARBOXYHAEMOGLOBIN.


- Limits the binding of OXYGEN in mother‟s bloodstream, so less is
transferred to foetus, hindering development.

Tar - Lines the alveolar membrane, limiting GASEOUS EXCHANGE of


oxygen and carbon dioxide in the mother‟s lungs, so less oxygen is
transferred to foetus.
- Destroys CILIA and mucus membranes, so increases prevalence of
respiratory infections in mother.

PRE-NATAL MONITORING PROGRAMS

In pregnancy, it is recommended that a healthcare provider check the health of the foetus. This is done by
checking the baby‟s heart rate and other functions. The details may vary, but typical electronic fetal
monitoring may go like this:

 EXTERNAL - The provider puts a device called an ULTRASOUND PROBE on the


mother‟s belly. This device sends the foetal heartbeat to a recorder. The foetal heart rate is
displayed on a screen.

 INTERNAL – This is usually done if the amnion has already ruptured and labour has begun. The
provider puts a small wire called a SCALP ELECTRODE through the cervix and attaches to the
baby‟s scalp. The electrode is attached to a wire. The wire sends information about the foetal
heartbeat to a computer.

END OF UNIT ONE 

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