Topic 10 & Topic 4: Genetics

4.1. Chromosomes, Genes, Alleles and Mutations

State that eukaryote chromosomes are made of DNA and protein.
 Eukaryote chromosomes are made of DNA and protein.

Define gene, allele, and genome.

 Gene: A heritable factor that controls a specific characteristic. It is a portion of the
DNA.
 Allele: one specific form of a gene, differing from other alleles by one of few bases
only and occupying the same gene locus as other alleles of the gene.
 Genome: the whole genetic information of an organism.

Define gene mutation

 A change in the base sequence of a gene. Point mutations affect only individual
bases. Bases can be deleted, inserted or substituted.

Explain the consequences of a base substitution in relation to the process of transcription

and translation, using the example of sickle cell anemia.
1. Base subsitution (gene mutation) from A to T in the triplet coding of a sixth amino
acid. The mutation changes the allele HbA into a new allele, HbS
2. One codon in the mRNA is different and therefore one amino acid in the polypeptide
is altered. Therefore, the haemoglobin of people with sickle cell anemia contain
valine instead of the normal glutamate.
3. These valine may change the phenotype from normal. Sometimes the cells become
sickle shaped (hence the name). The problem with this is that it might cause clotting
since the cells hook on and clot areas. Also, the person might suffer a severe lack of
oxygen in their body tissues.
4. The allele HbS is quite common in southern Africa, because it actually helps resist
malaria.
4.2 Meiosis & 10.1 Genetics
State that meiosis is a reduction division of a diploid nucleus to form haploid nuclei.
 Meiosis is a reduction division such that each daughter cell only has one of each kind of
chromosome. During meiosis, there are two nuclear divisions, and the result will be four
haploid nuclei.

Define homologous chromosomes

 Chromosomes which have the same arrangement of genes as each other. The actual
base sequence of these genes may differ, however, resulting in different alleles of
those genes. For example, homologous chromosomes carry a gene coding for eye-
color on the same location, the actual information carried on these genes (the base
sequence) may be different.

Outline the process of meiosis, including pairing of homologous chromosomes and crossing
over, followed by two divisions, which results in four haploid cells.
 Prophase I: homologous chromosomes pair up. Nuclear membrane will break down.
Spindle fibres extended from each pole of the equator. Crossing over occurs here.
 Metaphase I: the pairs of chromosomes line up on equator. Spindle fibres attach to
different chromosomes in each pair ensuring that each is pulled to opposite poles.
 Anaphase I: the spindle fibres pull the chromosomes to opposite poles halving the
chromosome number. Each chromosome still consists of two chromatids.
 Telophase I: the cell membrane around the equator is pulled inwards to divide the
cell to form two haploid cells. New spindle fibres grow from the poles to the
equator.
 Steps 2 and 3 repeats (Meiosis II), separating the chromatids.
 Four new haploid cells are formed. Nuclear membranes reform. Each nucleus now
has half of many chromosomes as the nucleus of the parent cell.

Explain how the non-disjunction can lead to changes in chromosome number, illustrated by
reference to Down's Syndrome (Trisomy 21).
 Sometimes chromosomes that separate and move to opposite poles move to one
pole instead. Non-disjunction is when chromosomes do not separate.
 When gametes that contain an extra chromosome fertilize, the zygote produces
three chromosomes of one type instead of the normal two. This is called trisomy.
When there are three chromosome 21's instead of just 2 is the cause of Down’s
Syndrome.

State that, in karyotyping, chromosomes are arranged in pairs according to their size and
structure.
 Chromosomes are arranged in pairs according to size and structure.
State that karyotyping is performed using cells collected by chorionic villus sampling or
amniocentisis, for pre-natal diagnosis of chromosome abnormalities.
 Karyotyping is performed using cells collected by chorionic villus sampling or amniocentisis
for pre-natal diagnosis of chromosome abnormalities.

Analyse a human karyotype to determine gender and whether non-disjunction has occurred.

 Two X chromosomes,
therefore female.
 Non-disjunction occurring at
chromosome 21, therefore
this person has Down’s
Syndrome.

 One X chromosome, one Y

chromosome, therefore male.
 No non-disjunction occurring.

Describe the behavior of chromosomes in the phases of meiosis.

Meiosis 1:
 Prophase I - homologous chromosomes are paired up tightly into tetrads, then
crossing over, the exchange of genetic material between the DNA in these tetrads
occurs, forming a chiasmata, and x-shaped structure.
 Metaphase I - paired chromosomes line up along the equator of a cell, the metaphase
plate as the spindle microtubulue apparatus pulls them.
  Anaphase I - The spindle microtubules pull homologous chromosomes to opposite
sides of the cell, causing them to separate.
 Telophase I - The spindle microtubule appartus begins to disappear/disintegreate,
the nucleus reforms around chromosomes
 Cytokenesis I - The cell divides along the equator, creating 2 haploid daughter cells

(A brief period of Interphase usually occurs between Meisois I and II, in which the cell grows, and
DNA is replicated to prepare for meiosis)

Meiosis 2:
 Prophase II - sister chromatids pair up and attach to the spindle microtubule
apparatus.
 Metaphase II - sister chromatids line up at equator of cell due to the movement of
the spindle microtubule apparatus.
 Anaphase II - sister chromatids separate as spindle fibers pull them in opposite
directions.
 Telophase II - sister chromatids are on opposite sides of cell, spindle fibers
disappear.
 Cytokenesis II - cell divides along the equator, nuclei begin to reform, creating 4
daughter haploid cells.

Outline the formation of chiasmata in the process of crossing over.

 During Prophase 1, homologous chromosomes are paired up very closely, creating a tetrad.
Then crossing over occurs, in which genetic information in the form of DNA is exchanged
between the homologous chromosomes of the tetrad. The site where crossing over occurs is
called a chiasmata, and it is an x-shaped structure.

Explain how meiosis results in an effectively infinite genetic variety of gametes through
crossing over in prophase I and random orientation in metaphase I.
 If a homologous pair is denoted as having chromoses A and B paired together, random
orientation during Metaphase I means that in any one cell after Meiosis I, the cell could have
either chromosome A or B, creating a random orientation of chromosomes in haploid cells
that leads to genetic variability. Added to this is the effect of crossing over during Prophase
I, meaning that chromosomes could have any combination of chromosomes A or B, creating
an almost infinite genetic variability.

State Mendel's law of independent assortment

Mendel's Law of Independent Assortment states that "Allele pairs separate independently of each
other during the formation of gametes."

Explain the relationship between Mendel's law of independent assortment and Meiosis
The separation of the allele pairs occurs during meiosis. Meiosis is the process whereby gametes
are produced.
4.3. Theoretical Genetics
Define: genotype, phenotype, dominant allele, recessive allele, codominant alleles, locus,
homozygous, heterozygous, carrier, and test cross
 Genotype: the alleles of an organism
 Phenotype: the characteristics of an organism
 Dominant Allele: an allele that has the same effect on the phenotype whether it is present in
the homozygous or heterozygous state
 Recessive Allele: an allele that only has an effect on the phenotype whenit is present in the
homozygous state
 Codominant allele: pairs of alleles that both affect the phenotype when present in a
heterozygote
 Locus: the particular position of a gene on homologous chromosomes
 Homozygous: having two identical alleles of a gene
 Heterozygous: having two different alleles of a gene
 Carrier: an individal that has one copy of a recessive allele that causes a genetic disease in
individuals that are homozygous for this allele
 Test Cross: testing a suspected heterozygote by crossing it with a known homozygous
recessive

Determine the genotypes and phenotypes of the offspring of a monohybrid cross using a
Punnett grid.

 This Punnett square shows both

phenotypes and genotypes of the second
generation of a pea plant.
 The dominant trait is the colour green; the
recessive trait is white.
 Both of the ‘parent’ plants (F1) are
heterozygous.
 The genotype ratio is 1:2:1 (one
homozygous dominant, two heterozygous,
one homozygous recessive).
 The phenotype ratio is 3:2 (three green,
one white).

State that some genes have more than two alleles (multiple alleles).
 Some genes have more than two alleles. “Multiple alleles” is when more than two forms of
alleles exist for one particular gene locus.
Describe ABO blood groups as an example of codominance and multiple alleles

Phenotype Genotype o The ABO blood group is a good

A                I I or I i
A A  A
example of codominance and
B                I I or I i
B B  B
multiple alleles. There are three
AB                  I I
A B

alleles that control the ABO blood

O                    ii
groups. The allele IA corresponds to
blood group A (genotype IAIA) and
the allele IB corresponds to blood
group B (genotype IBIB). Both of
these are dominant and so if IA and
IB are present together they form
blood group AB (genotype IAIB). Both
allele affect the phenotype since they
are both codominant. Codominant
alleles are pairs of alleles that both
affect the phenotype when present
together in a heterozygote. The
allele i is recessive to both IA and
IB so if you have the genotype IA i you
will have blood group A and if you
have the genotype IB i you will have
blood group B. However if you have
the genotype ii then you are
homozygous for i and will be of
blood group O.

Explain how the sex chromosomes determine gender by referring to the inheritance of X and
Y chromosomes in humans.
 The sex chromosomes, X and Y, determine gender. Females have two X chromosomes
whereas males have one X and one Y chromosome.
 The X chromosome is relatively large compared to the Y (which is much smaller) and
contains many genes. The Y chromosome on the other hand only contains a few genes.
 The female always passes on to her offspring the X chromosome from the egg (female
gamete).
 The male can pass on either the Y or the X chromosome from the sperm (male gamete). If
the male passes on the X chromosome, then the growing embryo will develop into a girl. If
the male passes on the Y chromosome then the growing embryo will develop into a boy.
  Therefore gender depends on whether the sperm which fertilizes the egg is carrying an X or
a Y chromosome. 
State that some genes are present on the X chromosome and absent from the shorter Y
chromosome in humans.
 Some genes are present on the X chromosome and absent from the shorter Y chromosomes.

Define Sex-Linkage
 Sex linkage is the association of a characteristic with gender, because the gene controlling
the chromosome is located on a sex chromosome.

Describe the inheritance of colour blindness and haemophilia as example of sex-linkage.

 Color blindness and hemophilia- both these conditions are produced by a recessive sex-
linked allele on the X chromosome.
 Colour blindness:
i. Red-Green color blindness is a recessive, sex-linked condition
ii. Males cannot pass on color blindness to their sons since the Y chromosome does not
have any of the colour blindness alleles
iii. Females are less likely to be color blind than males because they must inherit two
rare recessive alleles to express the disorder whereas males only need to inherit
one.
 Hemophilia :
i. Haemophilia is a recessive, sex-linked genetic disorder; people with haemophilia are
unable to produce clotting factor
ii. There are no females with hemophilia because the hemophilia allele is homozygous
lethal. Therefore, only boys are born with hemophilia.
iii. Males inherit the allele from their mother and develop the disease

State that a human female can be homozygous or heterozygous with respect to sex-linked
genes.
 A human female can be homozygous or heterozygous when in respects to sex-linked genes.

Explain that female carriers are heterozygous for X-linked recessive alleles
 Female carriers for X-linked recessive alleles are always heterozygous since they require a
dominant allele and a recessive allele to be carriers. They inherit the recessive allele from
one parent and the dominate allele from the other.
 For example, haemophilia: if a carrier mother and an unaffected father have offspring, then
the unaffected father will always pass on his dominate allele to his female offspring. The
 carrier mother can either pass on either the dominate or recessive allele. If she passes on
the recessive allele to her female offspring, the female offspring will be a carrier as well. 
Predict the genotypic and phenotypic ratio of offspring of monohybrid crosses involving any
of the above patterns of inheritance.
 (see attached worksheet)

Deduce the genotypes and phenotypes of individuals in a pedigree chart.

 Squares represent males 

 Circles represent females 
 Shaded symbols represent affected
individuals 
 Unshaded symbols represent
unaffected individuals.
 
 If most of the males in the pedigree
are affected the disorder is X-linked.
 If it is a 50/50 ratio between men
and women the disorder is autosomal.
 If the disorder is dominant, one of
the parents must have the disorder.
 If the disorder is recessive than
neither of the parents has to have the
disorder as they can be heterozygous. 
 
10.2 Dihybrid Crosses & Gene Linkage
Calculate and predict the genotypic and phenotypic ratios of offspring of dihybrid crosses
involving unlinked autosomal genes.

 In a test cross between diyhibrid, unlinked

autosomal genes SsBb and SsBb:
o S = dominant trait of short tail
o s = recessive trait of long tail
o B = dominant trait of brown fur
o b = recessive trait of white fur

 Phenotypic ratio – 9 dominant for both traits

A and B, 3 dominant for A, 3 dominant for B,
1 recessive for both

 Genotypic ratio -

 Trait A - 1 AA : 2 Aa : 1 aa (3

dominant, 1 recessive)

 Trait B - 1 BB : 2 Bb : 1 bb (3

dominant, 1 recessive)

Distinguish between autosomes and sex chromosomes.

 Sex chromosomes determine the gender of the organism, while autosomes do not.

Explain how crossing over between non-sister chromatids of a homologous pair in prophase
I can result in an exchange of alleles.
 Crossing over involves homologous chromosomes exchange "slices" of their own DNA with
the non-sister chromatids of a homologous pair. Thus, this results in an exchange of alleles
as the alleles from one chromatid are being exchanged with the alleles on a non-sister
chromatid.

Define linkage group

 A group of gene loci known to be linked; a chromosome. There are as many linkage groups
as there are homologous pairs of chromosomes.
Explain an example of a cross between two linked genes.
 When crossing two linked genes such as an organism with the genes AABB with another
organism with the genes aabb, the resulting F1 generation offspring can only have the genes
AaBb. Furthermore, the F2 generation offspring will have the genes in a 9:3:3:1 ratio.

Identify which of the offspring in such dihybrid crosses are the recombinants.
 The offspring that have traits different from the parents are recombinants. More
specifically, the offspring that possess a wholly unique genotype, different from that of both
of their parents, is a recombinant.
10.3 Polygenic inheritance
Define polygenic inheritance
 Polygenic inheritance - More than one particular gene codes for the inheritance of a specific
trait. (Not to be confused with pleiotropy, where one gene controls several traits.)

Explain that polygenic inheritance can contribute to continuous variation using two
examples. One example must be human skin color.
 Skin colour in humans
o The colour of human skin depends on the amount of the black pigment melanin in it.
At least four and possible more genes are involved, each with alleles that promote
melanin production and alleles that do not. There is a wide range of possible
genotypes with anything from no alleles promoting melanin to many.
Environmental factors can also lead to the increased production of melanin (eg. sun
tanning).
 Grain colour in wheat
o Wheat grains vary from white to dark red, depending upon the amount of a red
pigment they contain. Three genes control the colour. Each gene has two alleles, one
that causes pigment production and one that does not.
3.4 Genetic Engineering & Biotechnology
Outline the use of polymerase chain reaction (PCR) to copy and amplify minute quantities of
DNA.
 Polymerase chain reaction is used to copy and amplify minute quantities of DNA. It can be
useful when only a small amount of DNA is available but a large amount is required to
undergo testing. We can use DNA from blood, semen, tissues and so on from crime scenes
for example.
 The PCR requires high temperature and a DNA polymerase enzyme from Thermus
aquaticus (a bacterium that lives in hot springs).

State that in gel electrophoresis, fragments of DNA move in an electric field and are
separated according to their size.
 Based on idea that molecules move at different rates (and directions) when placed in an
electric field due to different charges and sizes.

State that gel electrophoresis of DNA is used in DNA profiling.

 Gel electrophoresis of DNA is used in DNA profiling.

Describe the application of DNA profiling to determine paternity and also in forensic
investigations.
 Organisms have short sequences of bases which are repeated many times. These are
called satellite DNA. These repeated sequences vary in length from person to
person. The DNA is copied using PCR and then cut up into small fragments using
restriction enzymes. Gel electrophoresis separates fragmented pieces of DNA
according to their size and charge. This gives a pattern of bands on a gel which is
unlikely to be the same for two individuals. This is DNA profiling and is useful in
cases such as:
 Paternity suits (determining parent-child relationships).
 Criminal investigations (using blood or semen collected from the scene).
 Identification of people long dead (e.g. Egyptian mummies, Russian Tsars).

Analyse DNA profiles to draw conclusions about paternity or forensic investigations.

 For a suspect look for similarities between the DNA found at the crime scene and the
suspect. For a paternity test, look for similarities between the child and the possible father. 
 Outline three outcomes of the sequencing of the complete human genome.
 It is now easier to study how genes influence human development. 
 It helps identify genetic diseases.
 It allows the production of new drugs based on DNA base sequences of genes or the
structure of proteins coded for by these genes.
 It will give us more information on the origins, evolution and migration of humans. 

State that when genes are transferred between species, the amino acid sequence of
polypeptides translated from them is unchanged because the genetic code is universal.
 The genetic code is universal. This means that genes can be transfered from one
organism to another, (and this has indeed been the case). Organisms that have had
genes transferred to them are called genetically modified organisms.

Outline the basic technique for gene transfer involving plasmids, a host cell (bacterium,
yeast or other cell) restriction enzymes (endonucleases) and DNA ligase.
1. Messenger RNA coded for insulin is extracted from human pancreas cells.
2. DNA copies of the messenger RNA coding for insulin are made using the enzyme reverse
transcriptase.
3. Plasmids (small loops of DNA found in bacteria) are cut open using restriction enzyme
endonucleouse.
4. The insulin gene and the plasmid are mixed.
5. DNA ligase seals up the plasmid.
6. The plasmid with the human insulin gene is inserted into a recombinant plasmid.
7. The recombinant plasmids are mixed with a strain of E. coli bacteria.
8. The E. coli bacteria start to make insulin which is then extracted, purified and used by
patients suffering from diabetes.

State two examples of the current uses of genetically modified crops or animals
 Golden rice is a genetically modified rice crop that produces beta-carotene, which
can be metabolized into Vitamin A within the body. Scientists hope that golden rice
will eventually be a cheap source of beta-carotene in malnourished countries,
reducing the number of children worldwide that go blind from Vitamin A deficiency.
 Bt maize is a genetically modified corn crop that produces a toxin that kills
European corn borers feeding on the maize.

Discuss the potential benefits and potential harmful effects of one example of genetic
modification.
 Bt Maize: Contains a gene which releases toxin that kills insects feeding on the
maize.
 Advantages: less pest damage, and therefore better harvests; less land
needed for crop production; less use of insecticides.
  Disadvantages: humans or animals that eat BT Maize might be harmed by
bacterial DNA in it; insects that are not feeding on the maize could be killed;
the maize pollen, which contains the toxin, could be blown onto nearby
plants; wild plants might also adapt the same gene; overuse of Bt maize
would lead to toxin-resistant corn borers.

Define clone.
 A clone is a group of genetically identical organisms or a group of genetically
identical cells derived from a single parent.

Outline the technique for cloning using differentiated animal cells.

1. Udder cells are taken from a donor sheep. The genes in the cell are made dormant.
2. Unfertilised eggs are taken from another sheep.
3. The nucleus is removed from the egg cell.
4. The egg cell without a nucleus is fused with the udder cell using a pulse of electricity.
5. The fused cells develop into zygotes.
6. Inserted back into mother.

Discuss the ethical issues of cloning in humans.

 Arguments for:
1. Embryonic stem cells can be used for therapies that save lives and reduce pain
for patients. Since a stem cell can divide and differentiate they can be used to
replace tissues or organs required by patients.
2. Cells can be taken from embryos that have stopped developing and so these cells
would have died anyway.
3. Cells are taken at a stage when the embryos have no nerve cells and so they
cannot feel pain.
 Arguments against:
1. Every human embryo is a potential human being and should be given the chance
of developing.
2. More embryos are generally produced than needed so many are killed.
3. There is a risk of embryonic stem cells developing into tumour cells.