3 Genetics

3.1 Genes
Understandings:
A gene is a heritable factor that consists of a length of DNA and
influences a specific characteristic.
Genetics: storage of information in living organisms and how this
information can be passed from parents to progeny
Gene: heritable factor
Gene consists of much shorter length of DNA than a chromosome
Each chromosome carries many genes
A gene occupies (besetzt) a specific position on one type of
chromosome.
Genes are linked in groups
Each group corresponds to one of the types of chromosome in a
species
Each gene occupies a specific position on the type of chromosome
where it is located
Position is called the locus of the gene
The

various specific forms of a gene are alleles.

Gregor Mendel = father of genetics
Experiment with pea plants
Differences between heritable factors
These pairs of heritable factors are alternative forms of the same
gene
Alleles: alternative forms of the same gene that occupy the same
position on one type of chromosome (same locus)
There can be more than two alleles of a gene (Multiple alleles)
Only one allele can occupy the locus
Animals and plants have two copies of each type of chromosome
Two copies of a gene
Two copies of the same allele of the gene or two different alleles

Alleles differ from each other by one or a few bases only.

Gene consists of a length of DNA
Hundreds or thousands of bases long base sequence
Different alleles have slight variations in base sequence
Very small number of bases is different
Positions in a gene where more than one base may be present:
single nucleotide polymorphisms (SNP; pronounced: snips)
New alleles are formed by mutation.
New alleles are formed by other alleles by gene mutation

Mutations: random changes

Most significant mutation: base substitution
Alleles do not benefit from mutations; either neutral or harmful
Some mutations are lethal: cause the death of the cell
Mutations in body cells are eliminated when individual dies but
mutations in cells that develop into gametes can be passed on to
offspring -> genetic disease

The genome is the whole of the genetic information of an

organism.
Genome: the whole of the genetic information of an organism
Genetic information is contained in DNA
Genome is the entire base sequence of each of DNA molecules
Humans: genome consists of 46 molecules that form chromosomes
in nucleus plus the DNA molecule in mitochondrion
Plants: genome is DNA molecules of chromosomes in nucleus plus
the DNA molecules in mitochondrion and chloroplast
Prokaryote: genome is much smaller and consists of DNA in circular
chromosome plus any plasmids that are present
The entire base sequence of human genes was sequenced in the
Human Genome Project.
Human genome project began in 1990
Aim was to find base sequence of entire human genome
Improvements in base sequencing techniques
Draft sequence published in 2000 and complete sequence in 2002
Only gives a rich mine of data not total understanding
Most of the genome is not transcribed
There is junk DNA
However, it affects gene expressions as well as highly repetitive
sequences, called satellite DNA
Since publication of human genome many other base sequences of
other species have been determined
Research is still developing

3.2 Chromosomes
Understandings:
Prokaryotes have one chromosome consisting of a circular DNA
molecule.
In most prokaryotes is one chromosome consisting of a circular DNA
molecule containing all genes needed for the basic life processes of
the cell
DNA is not associated with proteins so it is described as naked
Only single copies of genes because there is only one chromosome

Only for cell division there are two copies

Some prokaryotes also have plasmids but eukaryotes do not.

Plasmids: small extra DNA molecules
Commonly found in prokaryotes but not eukaryotes
Small, circular and naked, containing few genes
Not genes that are needed for basic life process
Might be useful to cell though
They are not replicated the same as chromosomes (time and rate)
So there might be multiple copies of a plasmid and a plasmid may
not be passed to both daughter cells
Copies of plasmids can be transferred from one cell to antother
(spread through a population)
They can cross species barrier, when prokaryote dies absorbed by
another
Natural method of gene transfer between species
Method also used by biologists
Eukaryote chromosomes are linear DNA molecules associated with
histone proteins.
Chromosomes in eukaryotes are composed of DNA and protein
This DNA is immensely long linear DNA molecule
Associated with histone proteins
Histones: globular in shape and wider than DNA
Many histone molecules in a chromosome
DNA molecule is wound around them
Adjacent histones in chromosome are separated by short stretches
of DNA that are not in contact with histones
Gives a eukaryotic chromosome appearance of string of beads
during interphase
In a eukaryote species there are different chromosomes that carry
different genes.
Eukaryotic chromosomes are not visible with a light microscope
during interphase
During meiosis and mitosis they become fatter by supercoiling so
they are visible
First stage of mitosis: chromosomes can be seen to be double (two
chromatids)
During mitosis they differ in length and position of centromere where
chromatids are held together
In every eukaryote there are at least two different types
In most there are more
Humans: 23 types of chromosome
Each chromosome carries a specific sequence of genes arranged
along the DNA molecule

Homologous chromosomes carry the same sequence of genes but

not necessarily the same alleles of those genes.
Homologous: two chromosomes have the same sequence of genes
Not usually identical to each other
At least the alleles are different
If two eukaryotes are from the same species there is at least one
homologous chromosome pair; allows to interbreed
Diploid nuclei have pairs of homologous chromosomes.
Diploid nucleus has two chromosomes of each type
Two full sets of chromosomes that are found in its species.
Diploid nuclei in humans: 46 chromosomes
During sexual production when haploid gametes fuse together a
zygote with diploid nucleus is produced
When divides by mitosis, more diploid cells are produced
Have two copies of each gene apart from genes on the sex
chromosomes
So effects of harmful recessive mutations can be avoided if
dominant allele is also present
Haploid nuclei have one chromosome of each pair.
Haploid nucleus has one chromosome of each type
One full set of chromosomes that are found in its species
Haploid nuclei in humans: 23 chromosomes
Gametes are sex cells that fuse together during sexual reproduction
Gametes have haploid nuclei
The number of chromosomes is a characteristic feature of
members of a species.
One of the most fundamental characteristics of a species
Not able to interbreed if different chromosome number
Number of chromosomes can change during evolution of a species
Decrease if chromosomes are fused together; increase if it splits
Mechanisms that can cause the number to double
Rare events and chromosome numbers tend to remain unchanged
over millions of years of evolution
A karyogram shows the chromosomes of an organism in
homologous pairs of decreasing length.
Chromosomes are visible during mitosis
Metaphase clearest view
Stains have to be used to make chromosomes show up
Some give chromosomes distinctive banding pattern
If dividing cells are stained and placed on a microscope slide and are
then burst by pressing on the cover slip, chromosomes get spread
Might overlap
Micrograph can be taken of stained chromosomes

Sex is determined by sex chromosomes and autosomes are

chromosomes that do not determine sex.
Two chromosomes in humans that determine sex:
o X chromosome (large and centromere in the middle)
o Y chromosome (smaller and centromere near the end)
All other chromosomes are autosomes and do not affect gender
X chromosome has genes that are important for males and females
All humans have at least one X chromosome
Y chromosome only has a small number of genes
These genes are not found on the X chromosome and not needed for
female development
One Y chromosome gene causes a fetus to cevelop as a male
This gene is either SRY or TDF
Females have two X chromosomes
All offspring inherit one X chromosome by mother
Plus either X or Y chromosome by father
When sperm are formed half contain X chromosome and half Y
chromosome

3.3 Meiosis
Understandings:
One diploid nucleus divides by meiosis to produce four haploid
nuclei.
Meiosis is one of two ways in which nucleus of a eukaryotic cell can
divide
Other method is mitosis
In meiosis nucleus divides twice
First division produces two nuclei, each of them divides again so
there are four nuclei
Meiosis I and meiosis II
Nucleus that undergoes first division of meiosis is diploid (two
chromosomes of each type); homologous chromosomes
Produced cells are haploid (only one set of chromosomes)
Reduction devision
Halving the number of chromosomes in the first devision
Each chromosome in first division still consists of two chromatids
These chromatids separate in meiosis II
Results of meiosis II: four nuclei with haploid number of
chromosomes with each chromosome consisting of a single
chromatid
The halving of the chromosome number allows a sexual life cycle
with fusion of gametes.
Life cycles of living organisms can be sexual or asexual

Asexual: offspring have the same chromosomes as the parent so are

genetically identical
Sexual: differences between the chromosomes of offspring and
parents so there is genetic diversity
Eukaryotic organisms: sexual reproduction involves process of
fertilization
Fertilization is union of sex cells or gametes from two different
parents
Fertilization doubles the number of chromosomes (every generation)
Number is also halved in life cycle
Which happens during meiosis
Meiosis can happen at any stage during a sexual life cycle
In animals it happens during process of creating the gametes
Body cells are diploid and have two copies of most genes
Meiosis is complex process
Without meiosis there cannot be fusion of gametes and the sexual
life cycle of eukaryotes could not occur

DNA is replicated before meiosis so that all chromosomes consist

of two sister chromatids.
During early stages of meiosis chromosomes shorten by supercoiling
As soon as they become visible it is clear that they consist of two
chromatids
Because all DNA in nucleus is replicated during interphase before
meiosis, chromosomes consists of two sister chromatids
Those two chromatids are genetically identical
DNA not replicated between meiosis I and II
That is why chromosome number is halved during meiosis
The early stages of meiosis involve pairing of homologous
chromosomes and crossing over followed by condensation.
Some of most important events of meiosis happen at the start of
meiosis I
Homologous chromosomes pair up with each other
DNA replication has already occurred
So each chromosome contains of two sister chromatids
A pair of homologous chromosomes (four DNA molecules) is bivalent
(=pair of homologous chromosomes) and pairing process is
sometimes called synapsis
After synapsis, crossing process takes place
Outcome is junction where one chromatid in each of homologous
chromosomes breaks and rejoins with other chromatid
Crossing over happens at random positions anywhere along the
chromosomes
At least one crossover in each bivalent but can be more
Occurs at the same position on the two chromatids involved, so
mutual exchange

Chromatids are homologous but not identical, some alleles of

exchanged genes are likely to be different
Chromatids with new combinations of alleles

Orientation of pairs of homologous chromosomes prior to

separation is random.
While pairs of homologous chromosomes are condensing inside
nucleus of cell in early stages of meiosis, spindle microtubules are
growing from poles of cell
After nuclear membrane has broken down, spindle microtubules
attach to centromeres of chromosomes
Attachment of spindle microtubules is not same as in mitosis:
o Each chromosome attached to one pole only not both
o The two homologous chromosomes in a bivalent are attached
to different poles
o The pole to which each chromosome is attached depends on
which way the pair of chromosomes is facing, called
orientation
o Orientation of bivalents is random, so each chromosome has
an equal chance of attaching to each pole, eventually of being
pulled to it
o Orientation of one bivalent does not affect other bivalents
Separation of pairs of homologous chromosomes in the first
division of meiosis halves the chromosome number.
Movement of chromosomes is not the same in first division of
meiosis as in mitosis
Mitosis: centromere divides and two chromatids make up a
chromosome move to poles
Meiosis: centromere does not divide and whole chromosomes move
to poles
Two chromosomes in each bivalent are held together by chiasmata
These slide to end of chromosomes and then chromosomes can
separate
Separation of homologous chromosomes is called disjunction
One chromosome from each bivalent moves to one of poles and
other chromosome to other pole
Separation of pairs of homologous chromosomes to opposite poles
halves chromosome number of cell
First division of meiosis = reduction division
Because one chromosome of each type moves to each pole both of
nuclei formed in first division contain one of each type of
chromosome so they are both haploid
Crossing over and random orientation promotes genetic variation.
Two parents have a child and they know that it will inherit an
unpredictable mixture of characteristics from each of them
Unpredictability is partly due to meiosis

Every gamete produced by a parent has a new combination of

alleles
Meiosis is a source of endless genetic variation
Humans have two copies of each gene except of X and Y genes
In some cases two copies are the same allele and there will be one
copy of that allele in every gamete produced by parent
Likely to be lots of genes where two alleles are different in parent
Each of two alleles has equal chance of being passed on in a gamete
Two processes in meiosis that generate diversity:
1. Random orientation of bivalents:
In metaphase 1 orientation of bivalents is random and
orientation of one bivalent does not influence orientation of
any of others
Process that generates genetic variation among genes that
are on different chromosome types
For every additional bivalent number of possible
chromosome combinations in a cell produced by meiosis
doubles
For a haploid number of n, number of possible combinations
is 2n (e.g. haploid number of 23 -> 223 or over 8 million
combinations)
2. Crossing Over:
Without crossing over in prophase 1, combinations of alleles
on chromosomes would be forever linked together
Crossing over allows genes to be reshuffled, produce new
combinations
Increases number of allele combinations

Fusion of gametes from different parents promotes genetic

variation.
Fusion of gametes to produce a zygote is highly significant event
both for individuals and species
Start of the life of a new individual
Allows alleles from two different individuals to be combined in one
new individual
Combination of alleles is unlikely ever to have existed before
Fusion of gametes therefore promotes genetic variation in a species
Genetic variation is essential for evolution

3.4 Inheritance
Understandings:
Mendel discovered the principles of inheritance with experiments
in which large numbers of pea plants were crossed.
When living organisms reproduce they pass on characteristics to
their offspring
Offspring inherit parents characteristics

Some characteristics cannot be inherited (e.g. scars, plastic surgery)

Aristotle observed that sometimes children inherit more
characteristics from their grandparents than their parents
Mendel published another theory in 1866
He used varieties of pea plant and crossed them
He transferred the male pollen from one variety to female parts in
flowers of another variety
Collected the pea seeds that were formed
Grew them to find out characteristics
Repeated each cross with many pea plants
Reliable
His results were ignored for over 30 years
One reason was that he used boring pea plants
Then others confirmed his work and proved it explained the basis of
inheritance in all plants and animal

Gametes are haploid so contain one allele of each gene.

Gametes are cells that fuse together to produce the single cell that
is the start of new life
Sometimes called sex cells
Cell produced when male and female fuse is called zygote
Male and female gametes are different in size and motility
Male is generally smaller
Sperm has a much smaller volume than egg cell and uses its tail to
swim to egg
Genes are passed to offspring by gametes
Gametes contain one chromosome of each type (haploid)
Nucleus therefore only has one allele of each gene
Male and female make equal genetic contribution to offspring
The two alleles of each gene separate into different haploid
daughter nuclei during meiosis.
When male and female gametes fuse their nuclei join together
(doubling chromosome number)
Nucleus of zygote contains two chromosomes of each type (diploid)
Also contains two alleles of each gene
Some genes have more than two alleles which gives six different
combinations of alleles (three with two of the same allele or three
with two different alleles)
Fusion of gametes results in diploid zygotes with two alleles of
each gene that may be the same allele or different alleles.
During meiosis a diploid nucleus divides twice to produce four
haploid nuclei
Diploid nucleus contains two copies of each gene, but haploid nuclei
contain only one

If two copies of one allele of a gene were present, each of the

haploid nuclei will receive one copy of this allele. For example, if the
two alleles were PP, every gamete will receive one copy of P.
If two different alleles were present, each haploid nucleus will
receive either one of the alleles or the other allele, not both. For
example, if the two alleles were Pp, 50% of the haploid nuclei would
receive P and 50% would receive p.
Separation of alleles into different nuclei is called segregation
It breaks up existing combinations of alleles
New combination in offspring

Dominant alleles mask the effects of recessive alleles but codominant alleles have joint effects.
In each of Mendels seven crosses between different varieties of pea
plant, all of offspring showed the character of one of the parents, not
the other
When two alleles are combined in one individual, it is the dominant
allele that determines the characteristic
Other allele that does not have an effect if the dominant allele is
present, is recessive
In each of Mendels crosses one of the alleles was dominant
Some genes have pairs of alleles where both have an effect when
they are present together -> co-dominant alleles
Usual reason for dominance of one allele is that this allele codes for
a protein that is active and carries out a function, whereas the
recessive allele codes for a non-functional protein
Many genetic diseases in humans are due to recessive alleles of
autosomal genes.
Genetic disease is an illness that is caused by a gene
Most are caused by recessive allele of a gene
So only in individuals that do not have dominant allele
Carriers: person that has one allele for the genetic disease and one
dominant allele, so they will not show symptoms of disease
Usually appear unexpectedly
Both parents must be carriers (25% that one offspring gets it)
Some genetic diseases are sex-linked and some are due to
dominant or co-dominant alleles.
Small proportion of genetic diseases are caused by dominant allele
If a person has one dominant allele then they themselves will
develop disease, carrier not possible
If one parent has it chance is 50% for child
Very small proportion of genetic diseases are caused by codominance
Most genetic disease affect male and female the same way but
some show a different pattern of inheritance in males and females
Called sex linkage

The pattern of inheritance is different with sex-linked genes due

to their location on sex chromosomes.
Plants always give same results when crossed
Animals results sometimes different
An inheritance pattern where ratios are different in males and
females, called sex-linkage
One of the first discovered by Thomas Morgan in fruit fly
Inheritance of genes and of chromosomes showed clear parallels and
so genes were likely to be located on chromosomes
Alleles should always be shown as a superscript letter on a letter X
and also show Y chromosome
Many genetic diseases have been identified in humans but most
are very rare.
Medical research has already identified more than 4,000 genetic
diseases
Most of humans do not suffer
Reason is that most are caused by recessive genes
Chance of inheriting two recessive genes is very small
Now possible to sequence genome of an individual human cheaply
and quickly
To reveal number of rare recessive alleles that individual is carrying
that could cause genetic disease
Radiation and mutagenic chemicals increase the mutation rate
and can cause genetic disease and cancer.
Gene consists of a length of DNA
Base sequence that can be hundreds or thousands of bases long
Different alleles have slight variations in base sequence
One or a very small amount of bases are different
New alleles are formed from other alleles by gene mutation
Mutation is a random change to base sequence of a gene
Factors that increase mutation rate:
o Radiation, if it has enough energy to cause chemical changes
in DNA (gamma rays, alpha particles from radioactive isotopes,
short-wave ultraviolet radiation and X-rays are all mutagenic)
o Some chemical substances, chemical changes in DNA, so are
mutagenic (e.g. nitrosamines found in tobacco smoke and
mustard gas used as a chemical weapon in First World War)
No mechanism for particular mutation being carried out
Random change to allele that has developed by evolution over
perhaps millions of years is unlikely to be beneficial
Mutations so either neutral or harmful
Mutations of genes that control cell division can cause a cell to
divide endlessly and develop into a tumour
Cause of cancer

Mutations in body cell are eliminated when individual dies

Mutations that develop into gametes can be passed on to offspring
Origin of genetic diseases
Therefore important to minimize number of mutations in gameteproducing cells in ovaries and testes

3.5 Genetic modification and biotechnology

Understandings:
Gel electrophoresis is used to separate proteins or fragments of
DNA according to size.
Gel electrophoresis involves separating charged molecules in an
electric field, according to their size and charge
Experiment: samples are placed in wells cast in a gel
Gel is in a liquid state and an electric field is applied
Molecules will then be moved because they are charged
Molecules that are positively or negatively charged move in different
directions
Proteins may be positively or negatively charged so can be
separated according to their charge
Gel consists of mesh of filaments that resists movement of
molecules
DNA molecules from eukaryotes are too long to move around in gel
So must be broken into smaller fragments
All DNA molecules are negatively charged
Small DNA fragments move faster than large ones
Gel electrophoresis used to separate fragments of DNA according to
size
PCR

can be used to amplify small amounts of DNA.

Polymerase chain reaction
Technique used to make large numbers of copies of DNA
Topic 2.7:
o DNA is loaded into a PCR machine in which cycle of steps
repeatedly doubles the quantity of selected DNA
o Double-stranded DNA separated into two single stands
combining to form double-stranded DNA at another stage
o Strands are held together by hydrogen bonds
o If DNA is heated to a high temp. hydrogen bonds eventually
break and two strands separate (95C for 15 sec)
o When DNA is cooled hydrogen bonds can form so strands pair
up, called re-annealing (54C)
o Large excess of short sections of single-stranded DNA, called
primers

o Primers bind to target sequences so they prevent the parent

strands
o So copying then starts from the primers
o Next stage in PCR is synthesis of double-stranded DNA, using
single strands with primers as templates
o Enzyme Taq DNA polymerase is used to do this
o Enzyme is adapted to be very heat-stable to resist
denaturation and resist the 95C
o Its optimum temp. is 72C
o There DNA replication is the fastest
o Cycle takes about 2min
o 30 cycles amplify DNA by a factor of a billion: less than one
hour
This process is used so you can study the DNA further without the
risk of using up a limited sample
Not used to copy the entire set of DNA in a sample such as blood
Used to copy specific DNA sequences
Sequence is selected by using a primer that binds to start of desired
sequence
Primer binds by complementary base pairing

DNA profiling involves comparison of DNA.

Stages:
o Sample of DNA is obtained (from known individual or another
sources such as fossil or crime scene)
o Sequences in DNA that vary considerably between individuals
and copied by PCR

o Copied DNA is split into fragments using restriction

endonucleases
o Fragments are separated using gel electrophoresis
o Produces a pattern of bands that is always the same with DNA
taken from individual -> individuals DNA profile
o Compare to see which bands are the same and which are
different
Genetic modification is carried out by gene transfer between
species.
Biologists have developed techniques that allow genes to be
transferred between species, called genetic modification
Possible because genetic code is universal
Amino acid sequence translated from them is unchanged
Same polypeptide is produced
Genes have been transferred from eukaryotes to prokaryotes
Transfer of a gene for making human insulin in a bacterium is
possible
Done to treat diabetics
Also been used to introduce new characteristics to animal species
Also been used to produce many new varieties of crop plant, called
GM crops
Examples: golden rice, tomatoes
Clones are groups of genetically identical organisms, derived from
a single original parent cell.
Zygote (a diploid cell resulting from the fusion of two haploid
gametes): produced by fusion of a male and female gamete is first
cell of a new organism
Produced by sexual reproduction
So all genetically different
Zygote grows to adult organism and reproduces sexually
Offspring genetically different
If organisms produce asexually they produce genetically identical
This is called cloning
A group of genetically identical organisms is called a clone
A pair of identical twins is the smallest clone that can exist (asexual
reproduction because at embryo stage the ball of cells splits into half
by mitosis so there are then two cells that develop into fetuses
which become identical twins, so not sexual reproduction)
Either produced by a human zygote dividing into two cells, which
each develop into separate embryos or an embryo splitting into two
parts, which each develop into separate individuals
Better term for identical twins: monozygotic
A clone can consist of very large numbers of organisms
Commercially grown potatoes are huge clones
Large clones are formed by repeated cloning

Organisms are still all traced back to one original parent cell

Somatic Cell Nuclear Transfer

A somatic cell is a any cell that is not a germ cell (egg or sperm)
Somatic Cell Nuclear Transfer (SCNT) involves:
o Removing the nucleus from a somatic cell
o Inserting the nucleus into an egg cell from which the original
nucleus has been removed
o shocking the implanted cell (chemically or electrically) so it
will grow multiply
The new cell is genetically identical to the donor
SCNT was first demonstrated in 1983 using amphibians
This process was attempted with mammals in 1986, but these
experiments were limitied to developing empryos
In 1997, the first successful mammal was Dolly the sheep
http://learn.genetics.utah.edu/content/cloning/clickandclone/
Many plant species and some animal species have natural
methods of cloning.
The word clone was first used for plants produced by asexual
reproduction
Many plants have natural method of cloning
Two examples of methods:
o A single garlic bulb, when planted, uses its food stores to grow
leaves. These leaves produce enough food by photosynthesis
to grow a group of bulbs. All the bulbs in the group are
genetically identical so they are a clone.
o A strawberry plant grows long horizontal stems with plantlets
at the end. These plantlets grow roots into the soil and
photosynthesize using their leaves, so can become
independent of the parent plant. A healthy strawberry plant
can produce ten or more genetically identical new plants in
this way during a growing season.
Animals can be cloned at the embryo stage by breaking up the
embryo into more than one group of cells.
All cells in an animal embryo are pluripotent (capable of developing
into all types of tissue)
So embryo could divide into two or more parts and each part would
develop into a separate individual with all body parts
Called splitting or fragmentation
Coral embryos have been observed to clone themselves by breaking
up into smaller croups of cells or even single cells
Increases the chance of one embryo surviving
Formation of identical twins: regarded as cloning by splitting

Most animals do not do this naturally

It is possible to break up animal embryos artificially and sometimes
separated part develop into multiple embryos
After a certain number of divisions the embryo cells are no longer
pluripotent
Splitting of embryos is usually most successful at the eight-cell stage

Methods have been developed for cloning adult animals using

differentiated cells.
Easy to clone animal embryos but it is not sure if they are going to
develop desirable
When they are adults it is easy to asses their characteristics
But hard to clone them then
Because cells in adults are differentiated
Undifferentiated pluripotent new animal cells are needed to produce
all tissues
Cloning using differentiated cells is more difficult in mammals
Dolly the sheep 1996 first cloned
In humans embryo would consist of pluripotent stem cells which
could be used to regenerate tissues for the adult
Would be genetically identical to those of the adult

10 Genetics and Evolution (HL)

10.1 Meiosis
Understandings:
Chromosomes replicate in interphase before meiosis.
Meiosis follows a period of interphase with cell cycle phases of G 1, S
and G2
S phase: DNA is replicated so each chromosome consists of two
chromatids
At start of meiosis chromosomes condense and are visible as two
chromatids (sister chromatids)
Pairing (synapsis) occurs where homologous chromosomes come to
align beside each other
Combination is referred to as a tetrad (group of four) as it is
composed of four chromatids, also bivalent
In many eukaryotic cells, a protein-based structure forms between
the homologous chromosomes called the synaptonemal complex
Crossing over is the exchange of DNA material between non-sister
homologous chromatids.
During prophase I of meiosis, breaks in DNA occur
Following these breaks, non-sister chromatids invade a homologous
sequence on a non-sister chromatid and bind in the region of break

Once crossing over is complete non-sister chromatids continue to

adhere at the site where crossing over occurred
Connection points are called chiasmata (pl.) chiasma (sl.)
Probably connections via chiasmata are essential for successful
completion of meiosis

Chiasmata formation between non-sister chromatids in a bivalent

can result in an exchange of alleles.
Consequences of chiasmata formation: increased stability of
bivalents at chiasmata; increase genetic variability
Exchange of DNA between maternal and paternal chromosomes
Decouple linked combinations of alleles
Therefore independent assortment
Crossing over produces new combinations of alleles on the
chromosome of the haploid cells.
Crossing over can produce new combinations of alleles on the
chromosomes of the haploid cells

Homologous chromosomes separate in meiosis.

First meiotic division is unique while second resembles mitosis
Number of ways in which meiosis differs from mitosis and meiosis II:
o Sister chromatids remain associated with each other
o Homologous chromosomes behave in a coordinated fashion in
prophase
o Homologous chromosomes exchange DNA leading to genetic
recombination

o Meiosis I is a reduction division in that it reduces the

chromosome number by half
Creation of genetic variety of gametes in meiosis I
Segregation (the separation of pairs of alleles at meiosis and their
independent transmission via separate gametes) of homologous
chromosomes occurs during anaphase I resulting in two haploid
cells, each with only one copy of each homologous pair

Independent assortment of genes is due to the random

orientation of pairs of homologous chromosomes in meiosis I.
Homologous chromosomes pair up during meiosis and then
separate, moving to opposite poles
Pole to which each chromosomes moves depends on which way the
pair is facing
Random
Direction in which one pair is facing does not affect direction in
which any of other pairs are facing
Independent orientation
If an organism is heterozygous for a gene then in its cells one
chromosome will determine which allele moves to which pole
Each allele has 50% chance of moving to one pole
Chance of two alleles coming to same pole is 25%
Sister chromatids separate in meiosis II.
After meiosis I, daughter cells enter meiosis II without passing
through interphase
Meiosis II similar to mitosis
Replicated chromosome is separated into chromatids
Sister chromatids are separated but likely to be non-identical due to
crossing over

10.2 Inheritance
Understandings:
Unlinked genes segregate independently as a result of meiosis.
Segregation is separation of two alleles of every gene that occurs
during meiosis
Independent assortment is observation that alleles of one gene
segregate independently of alleles of other genes
Genes in different chromosomes are unlinked and do segregate
independently as result of meiosis
Genes which are on same chromosome are linked and do not
segregate independently (except there are far apart on
chromosome)
The further the separation of, genes crossing over more frequently
Gene loci are said to be linked if on the same chromosome.

If chromosomes have same sequence of genes they are homologous

They are usually not identical to each other because for at least
some of genes on them alleles will be different
All genes on a chromosome are part of one DNA molecule
Autosomes: any chromosome that is not a sex chromosome
Diploid nuclei have two of each type of autosome
Two types of linkage: autosomal gene linkage; when genes are on
same autosome or sex linkage; when genes are located on the X
chromosome
Morgan Drosphila

Variation can be discrete or continuous.

Differences between individual organisms are referred to as variation
Where individuals fall into a number of distinct categories, variation
is discrete or discontinuous
Blood types: discrete variation
No in-between categories
The phenotypes of polygenic characteristics tend to show
continuous variation.
Examples of inheritance in which two or more genes affect same
character
Genes have an additive effect
Mendel discovered that in beans
If there are two unlinked genes, with co-dominant alleles it gives a
range of characteristics
If number of ulinked genes, with co-dominant alleles, were larger
then there would be more phenotypic variants
Number and frequency of variants can be predicted using alternate
rows of Pascals triangle

As number of genes increases, distribution becomes increasingly

close to normal distribution
Closeness to normal distribution suggests that more than one gene
is involved

Called polygenic inheritance

Chi-squared tests are used to determine whether the difference

between an observed and expected frequency distribution is
statistically significant.
In 1901, Bateson reported one of first post-Mendelian studies of
cross involving two traits
Chi-squared test tests if differences between observed and expected
ratios are due to sampling error or if differences are statistically
significant, suggesting that traits do not assort independently
Method for chi-squared test:
1. Draw up a contingency table of observed frequencies, which
are numbers of individuals of each phenotype.
2. Calculate the expected frequencies, assuming independent
assortment, for each of the four phenotypes. Each expected
frequency is calculated from values on the contingency table
using the expected probability from the Punnet grid multiplied
by the actual total.
3. Determine the number of degrees of freedom, which is one
less than the total number of classes (4-1) = 3 degrees of
freedom.
4. Find the critical region for chi-squared from a table of chisquared values, using the degrees of freedom that you have
calculated and significance level (p) of 0.05 (5%). The critical
region is any value of chi-squared larger than the value in the
table.
5. Calculate chi-squared using equation (page 454)
6. Compare the calculated value of chi-squared with the critical
region.
If the calculated value is in the critical region, there is
evidence at the 5% level for an association between
the two traits
If the calculated value is not in the critical region,
because it is equal to or below the value obtained
from the table of chi-squared values
There is no evidence at the 5% level for an
association between the two traits.

10.3 Gene pools and speciation

Understandings:
A gene pool consists of all the genes and their different alleles,
present in an interbreeding population.
Most commonly accepted definition of a species is biological species
concept
Defines a species as a group of potentially interbreeding
populations, with common gene pool that is reproductively isolated
from other species

Some populations of same species are geographically isolated so it

is possible for multiple gene pools to exist for the same species
Individuals that reproduce contribute to gene pool of next generation
Genetic equilibrium exists when all members of a population have
an equal chance of contribution to future gene pool

Evolution requires that allele frequencies change with time in

populations.
Evolution: cumulative change in heritable characteristics of a
population over time
Can occur due to number of reasons such as mutations introducing
new alleles
Selection pressures favouring the reproduction of some varieties
over others and barriers to gene flow emerging between different
populations
If population is small, random events can also have significant effect
on allele frequency
Reproductive isolation of
behavioural or geographic.

populations

can

be

temporal,

Speciation due to divergence of isolated populations can be

gradual.
Speciation can occur abruptly.