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SECTION 12 – GENETICS
At the end of this section, students should be able to:
• Describe the process of mitosis. Include the definition of mitosis; movement of
chromosomes during mitosis (include the names of stages); diagram required.
• Explain the importance of mitosis. Include the production of identical daughter
cells having the same number (diploid) and type of chromosomes as the parent
cell (clones); growth, repair and asexual reproduction.
• Describe the process of meiosis. Include the definition of meiosis; movement and
separation of homologous chromosomes and the subsequent separation of
chromatids (names of stages not required); diagram required.
• Explain the importance of meiosis. Include the importance of halving the
chromosome number (haploid) in the formation of gametes; importance of
meiosis in introducing variation into gametes.
• Explain why genetic variation is important to living organisms. Include examples
of variation – height, weight, gender (sex), blood type, and tongue rolling;
mention antibiotic resistant bacteria.
• Distinguish between genetic variation and environmental variation. Include the
difference between continuous and discontinuous variation; mutation, (Down’s
Syndrome, albinism).
• Explain the inheritance of a single pair of characteristics (monohybrid
inheritance. Include DNA/RNA, chromosome, allele, dominant, recessive,
homozygous, heterozygous, gene, genotype and phenotype. Monohybrid
inheritance to include albinism, sickle cell anaemia, tongue rolling; sex linkage
(haemophilia, colour blindness)
• Describe the inheritance of sex in human beings. Include the role of sex
chromosomes.
• Explain the concept of genetic engineering. Include changing the traits of one
organism by inserting genetic material from another organism.
• Discuss the advantages and disadvantages of genetic engineering. Include
recombinant DNA in the manufacture of insulin; its application in the production
of food and medicine.
• Use tables, charts and diagrams to represent data on heredity and variation.
Glossary
Describe: Provide detailed factual information of the appearance or arrangement of a
specific structure or the sequence of a specific process. Descriptions may be in words,
drawings or diagrams or any appropriate combination. Drawings or diagrams should be
annotated to show appropriate detail where necessary.

Explain: Give reasons based on recall; account for.

Distinguish: State or explain briefly those differences between or among items which
can be used to define the items or place them into separate categories.

Discuss: Present reasoned arguments; consider points both for and against; explain the
relative merits of a case.

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HEREDITY

Inheritance is the transmission of genetic information (genes) from one

generation to the next.

Most living organisms start their existence as a single cell or zygote (a fertilized
egg). This single cell then divides continually to produce, eventually the millions of cells,
which make up the new organism. This new organism resembles the parents from which
they came. This means that the information or instructions that were passed on from the
parents were contained in the gametes.
Genetic information in cells is found in their nuclei. In the nucleus, there are
many thread-like structures, made up of protein and DNA (deoxyribonucleic acid), called
chromosomes. Each species has a specific number of chromosomes in each nucleus.
Human cells contain 46 chromosomes. These are paired so there are 23 pairs of
chromosomes in human cells. Both chromosomes of a pair are alike and are therefore
called homologous chromosomes. The total number of chromosomes in each cell is
called the diploid number. The diploid number of humans is 46(represented as2n)

Genes

A gene is a length of DNA, on a chromosome, coding for a particular

characteristic such as, eye colour, height etc.
Each chromosome of a homologous pair carries genes for the same characteristic
in the same place or locus. These genes may define the same characteristic in different
ways.

Pair of genes, which code for the same characteristic, and are found on the same locus
of homologous chromosomes, are called alleles. Therefore, alleles are described as being
different forms of the same gene.

• Chromosomes are thread-like structures made up of protein and DNA. They are
found in the nucleus of each cell.
Chromosomes are only visible during cell division as short, thick, X-shaped structures.
• Chromatin is the name given to DNA which is tightly coiled around small
proteins.
• A gene is a length of DNA on a chromosome which codes for a particular
characteristic such as eye colour and hair colour.
• DNA (Deoxyribonucleic acid) is a chemical which carries instructions to make all
the proteins in our cells.
• RNA (Ribonucleic acid) is a copy of a gene which instructs the cell to make a
particular protein. It can pass out of the nucleus into the cytoplasm of the cell unto
the surface of the ribosomes where the protein is made.
• Alleles are alternative forms of a gene that occupy the same position or locus on a
particular chromosome and that control the same characteristic.

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Cell division

During growth, cell division must take place. It is important that after cell division the
diploid number of each cell must be maintained. There are 2 types of nuclear division that
take place:

Mitosis
This is nuclear division resulting in the formation of two nuclei with the same
chromosome number, and the same genetic content, as the original nucleus.

Characteristics of Mitosis
• 1 parent cell produces 2 daughter cells.
• The daughter cells have the same number of chromosomes as the parent cell.
• The genetic makeup of the chromosomes is identical to the parents and each
other.

Mitosis is essential for:

• Growth
• Repair
▫ Replace damaged or dead cells.
• Asexual Reproduction
▫ Many species reproduce asexually, such as unicellular organisms and
plants by vegetative propagation. This can be natural as in the case of
vegetative organs such as rhizomes, stem tubers, corms and bulbs, runners,
leaf buds and suckers. It can also be artificial, for example, cuttings e.g.
sugarcane and cassava, and tissue culture.
▫ In asexual reproduction, the cells of the offspring are produced by mitosis
from cells of the parent. This is why they contain exactly, the same genes

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and no variety. Mitosis ensures that the diploid number of the species is
maintained.
• Animal Cloning
▫ Currently carried out by transferring the nucleus of a somatic (body) donor
cell to an egg cell with the nucleus removed.
▫ Useful in farming industries

Meiosis

During sexual reproduction, fusion of the nuclei of gametes occurs, giving rise to a
zygote, which would have the correct diploid number of the species. This zygote then
undergoes division (mitosis) giving rise to other cells with the diploid number of the
species. This means that the type of division, which occurs to give rise to gametes, must
be different from mitosis. If gametes of humans were produced by mitosis, then fusion of
their nuclei would result in a species with a diploid number of 92.
Meiosis is a nuclear division resulting in a halving of the chromosome number, and
the production of variation, during the formation of gamete cells.
A gamete can therefore be defined as either a sperm or an egg, which has half the
number of chromosomes, found in the body cells.
A cell, which has only half the full number of chromosomes, is described as haploid.
ALL gametes are haploid (n).

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Characteristics of Meiosis
• 1 parent cell produces 4 daughter cells.
• The daughter cells have half the number of chromosomes as the parent cell.
• The genetic makeup of the chromosomes in each daughter cell is different from
each other and the parent cell, that is, there is genetic variation.

Importance of Meiosis
• Halving of chromosome number
▫ Meiosis causes haploid cells to be formed from diploid cells.
▫ When haploid cells fuse during fertilisation, the diploid number of
chromosomes is restored.
• Genetic variation
▫ Crossing over between homologous chromosomes
▫ Independent assortment of homologous chromosomes

Inheritance of Sex

The cells of an adult human contain 46 chromosomes (23 pairs). One pair is
called sex chromosomes because they determine the individual’s sex.
There are 2 types of sex chromosome: a long one known as the X chromosome,
and a short one known as the Y chromosome. Males contain an X and a Y chromosome,
whereas females contain two X chromosomes.
Gametes are formed by meiosis. Half the sperms formed would contain either an
X or a Y. All eggs formed would contain an X chromosome.
When fertilization occurs, either a sperm containing an X chromosome or a sperm
containing a Y chromosome may fertilize the egg. Since fertilization is random, there are
equal chances of the egg being fertilized by an X or a Y sperm.
If an X sperm fertilizes the egg, then the zygote would contain two X
chromosomes and would develop into a female. If a Y sperm fertilizes the egg, then the
zygote would contain an X and a Y and would develop into a male. Only the male can
pass on the Y chromosome, consequently the father is the parent who determines the
gender of his offspring.

Parents’ phenotype MALE FEMALE

Parents’ genotype XY XX

Meiosis

Gametes X, Y X,

Random
Fertilization

Offsprings’ XX XY
Genotype

Offsprings’
Phenotype Female Male

Ratio 1:1

Percentage 50%

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Monohybrid Inheritance

In monohybrid inheritance, a pair of genes or alleles governs one characteristic.

The genes you have for a particular characteristic makes up your genotype. The physical,
outward effect the genotype has is called your phenotype.

Sometimes a gene might be dominant over another gene. Once this dominant gene is
present in the genotype, the effects would be seen in the phenotype.

The other gene is described as being recessive. This gene, in the presence of its
contrasting partner (allele), is not expressed in the phenotype.

When your genotype comprises two identical genes for a characteristic, you are described
as being homozygous for that characteristic. If your genotype comprises two contrasting
genes (alleles) for the same characteristic, you are described as being heterozygous for
that characteristic.

• Dominant alleles control the development of a characteristic even when there is

only one present. It is always expressed in the phenotype.

• Recessive alleles only control the development of a characteristic when the

dominant allele is absent.

• Homozygous. This is when 2 identical alleles are present (whether dominant or

recessive)

• Heterozygous. When the 2 alleles are different, that is, 1 dominant and 1
recessive.

The alleles that determine a particular feature are not always completely dominant or
recessive. They can sometimes interact with each other so that the resulting heterozygote
does not have the same phenotype as one which is homozygous dominant but shows a
completely new characteristic that shows elements of both the dominant and recessive
allele. This can be incomplete dominance, or it can be co-dominance.

Co-dominance
The law of co-dominance basically incorporates the existence of the alleles with each
other in a simultaneous manner. This means that when there are two alleles, which share
a co-dominant relationship, the progeny will express both alleles. For example, if a black
cat (CbCb) is crossed with a brown cat (CrCr), the kittens (CbCr) will be either brown with
black spots or stripes, or black with brown spots or stripes, i.e., tabby cat. This means that
both colors are co-dominant in this case, and both the alleles are completely expressed,
and the kittens show both colors at the same time.

Incomplete Dominance
It is the expression of alleles that are neither dominant nor recessive. These alleles mix
together and result in the expression of a physical trait, which is a mixture of both the
alleles. For example, when you cross a black mouse (BB) with a white mouse (WW),
their progeny is gray in color (BW). These colors blend and express the phenotype of
both alleles. This type of dominance is similar to mixing paints. When you mix one color
with another color, the result is a completely different color. Similarly, when one allele is
mixed with another allele, they blend to give rise to a new phenotype.
Thus, in short, it can be said that in co-dominance, the alleles express their
individual traits simultaneously. In case of incomplete dominance, the alleles tend to
blend in to give rise to an altogether new phenotype.

Examples of Co-dominance and Incomplete Dominance

Example 1
When one crosses a red snapdragon flower (RR) with a white snapdragon flower (WW),
the result will be as follows:
RR X WW will give rise to RW

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The flowers show incomplete dominance as the red and white colors blend in and express
a completely new color, i.e., pink.

Example 2
When a cream-colored mare (CC) is paired with a brown colored horse (BB), it will
result in a pony that is tan in color. This is an example of incomplete dominance, where
the alleles blend to form a new phenotype.

CC X BB this results in an offspring that is tan in color CB.

Example 3
When a red flower is crossed with a white flower, it results in flowers with red spots on
white background, or white spots on red background.

R1R1 X R2R2 the resultant flowers are R1R2.

This is an example of co-dominance where both red and white colours are expressed in
the resultant flowers.

Test Cross
In order to find out the genotype of an organism with a dominant trait, a test cross needs
to be carried out. The unknown organism is crossed with an organism displaying the
recessive phenotype of the same characteristic.

Sex-linked disorders

Sex-linked characteristics are characteristics determined by genes carried on the sex

chromosomes that have nothing to do with determining gender. These are known as sex-
linked genes. Since chromosome X is longer than chromosome Y, it carries more genes.
Males only have one X chromosome, and any allele carried on this chromosome only,
whether dominant or recessive, will be expressed in the phenotype.

Examples– Haemophilia. This is a sex-linked condition where the blood fails to clot at a
cut. The dominant allele, H, causes blood to clot normally; the recessive allele, h, causes
haemophilia. These alleles are carried on the X chromosome only. Males are much more
likely to have haemophilia than females; if the single X chromosome in a male carries the
recessive allele he will have the condition, whereas both X chromosomes must carry the
recessive allele in a female for her to have the condition.

Red-green colour blindness. This is a sex-linked condition where the sufferer is unable
to distinguish differences between certain colours. The dominant allele, N, allows normal
vision and the recessive allele, n, causes colour blindness. These alleles are carried on the
X chromosome only, so colour blindness is inherited in the same way as haemophilia.

Variation
Variation in individuals arises as a result of
▫ Independent assortment and crossing over during meiosis
▫ Mutations in genetic material
• Genetic variation is important for survival in changing environments.
• Beneficial mutations will enable a particular variety to survive better than other
varieties.

Environmental Variation

These are the differences that result due to different environmental conditions
such as availability of food, health, temperature etc.

Genetic Variation
These are the differences each individual has due to different genetic makeup so,
if conditions change, some may survive and the genetic makeup of the whole population

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will gradually change. This is known as natural selection or ‘survival of the fittest’.
Genetic variation is inheritable.

Advantages of Genetic Variation

Each individual has a different genetic makeup so, if conditions change, some
may survive, and the genetic makeup of the whole population will gradually change. This
is known as natural selection or ‘survival of the fittest’.

Continuous Variation
In continuous variation, there is a gradual transition between the two extremes.
Features that show continuous variation are usually determined by several different genes
and affected by the environment such as availability of food, and the impact of disease.
Examples of continuous variation – height, weight, hair colour, skin colour, foot
size, intelligence.

Discontinuous Variation
In discontinuous variation, some characteristics are either present or absent.
Characteristics that show discontinuous variation are usually determined by a single gene
with little or no environmental impact.
Examples of discontinuous variation – blood group, tongue-rolling, sex, dimple.

Genetic Engineering

This often involves the transfer of genes from one species into another; the new
organisms formed are called transgenic organisms or genetically modified organisms
(GMO). Most recombinant DNA technology involves the insertion of foreign genes into
the plasmids of common laboratory strains of bacteria. Plasmids are small rings of DNA;
they are not part of the bacterium’s chromosome. Nonetheless, they can direct protein
synthesis, and, like chromosomal DNA, they are reproduced and passed on to the
bacterium’s progeny or offspring. Thus, by incorporating foreign DNA (for example, a
mammalian gene) into a bacterium, researchers can obtain an almost limitless number of
copies of the inserted gene. Furthermore, if the inserted gene is operative (i.e., if it directs
protein synthesis), the modified bacterium will produce the protein specified by the
foreign DNA.
Genetic engineering is used to:
• Protect agricultural crops against environmental threats, e.g., pathogens, pests,
herbicides and low temperatures.
• Modify the quality of a product, e.g., increasing nutritional value.
• Make organisms produce materials that they do not usually produce, e.g.,
vaccines and drugs.
• Improve yields, e.g., increasing size or growth rate, or making organisms hardier.

Genetic Engineering and Food Production

Examples
• Golden rice
By inserting two genes into rice plants, one from maize and one from soil bacterium, the
endosperm of the rice grains is stimulated to produce beta-carotene which the body
converts to vitamin A. Golden rice should help fight vitamin A deficiency, which is a
leading cause of blindness, and often death, of children in many underdeveloped
countries.

• Roundup resistant crops

By inserting a gene from soil bacterium into certain crop plants, e.g. soya bean, corn and
canola, the plants become resistant to the herbicide called ‘Roundup’. The herbicide can
be sprayed on the crops to destroy weeds but not harm the crops.

• Bt corn
By inserting a gene from soil bacterium into corn plants, the plants are stimulated to
produce a chemical that is toxic to corn-boring caterpillars. This makes the corn plants
resistant to the caterpillars.

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• Bovine somatotrophin (BST) hormone

By transferring the gene that controls the production of BST hormone from cattle into
bacteria, the bacteria produce the hormone which is then injected into cattle to increase
milk and meat production.

• Chymosin (rennin)
By transferring the gene that controls the production of chymosin from calf stomach cells
into bacteria or fungi, the microorganisms produce chymosin which is used in cheese
production. This has considerably increased the production of cheese worldwide.

Genetic Engineering and Medical Treatment

Genetic engineering is used to produce many drugs used in medical treatment.

Examples
• Insulin
By transferring the gene that controls insulin production in humans into bacteria, the
bacteria produce insulin which is used to treat diabetes.

• Human growth hormone (HGH)

By transferring the gene controlling the production of HGH into bacteria, the bacteria
produce the hormone which is used to treat growth disorders in children.

• Hepatitis B vaccine
By transferring the gene controlling the production of the hepatitis B antigens in the
hepatitis B virus into yeast, the yeast produces the antigens which are used as a vaccine.

Other drugs produced by genetic engineering include:

• Blood clotting drugs for people with haemophilia.
• Follicle stimulating hormone (FSH) used to stimulate the ovaries to produce
mature ova in women that are infertile.
• Interferons used to treat viral infections and certain cancers.
• Anticoagulants used to prevent the development of life-threatening blood clots in
heart patients.
• Human papilloma virus vaccine.

Possible Advantages of Genetic Engineering

• Yields can be increased by genetic engineering which should increase the world
food supply and reduce food shortages.
• The nutritional value of foods can be increased by genetic engineering which
should reduce deficiency diseases worldwide.
• The need for chemical pesticides that harm the environment can be reduced by
genetically engineering crops to be resistant to pests.
• Vaccines produced by genetic engineering are generally safer than vaccines
containing live, weakened, or dead pathogens.
• Larger quantities of drugs in a safer and purer form can be produced than were
previously produced from animal sources resulting in more people worldwide
having ready access to safe, life-saving drugs.
• It overcomes ethical concerns of obtaining certain drugs from animals, e.g.,
insulin used to be obtained from pigs and cows.

Possible Disadvantages (Social and Ethical Implications) of Genetic Engineering

• Plants genetically engineered to be toxic to a pest may also be toxic to useful

organisms, e.g., insects that bring about pollination. This could negatively affect
wild plants and reduce reproduction in crops, reducing food production.
• Plants genetically engineered to be resistant to pests and herbicides could create
unpredictable environmental issues, e.g., they could lead to the development of
pesticide-resistant insects or they could interbreed with closely related wild plants
and create herbicide-resistant superweeds.

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• Once a genetically modified organism is released into the environment, it cannot

be contained or recalled. Any negative effects are irreversible.
• The number of allergens in foods could be increased by transferring genes causing
allergic reactions between species.
• As yet unknown health risks may occur as a result of eating genetically modified
plants and animals.
• Large companies with funds and technology to develop genetically modified
organisms could make large profits at the expense of smaller companies and
poorer nations.
• Future steps in genetic engineering might allow the genetic make-up of higher
organisms, including humans, to be altered, e.g., to produce ‘designer babies’.
Difficult moral and ethical issues then arise, e.g., how far should we go in
changing our own genes and those of other animals?

Other Applications of Gene Technology

• DNA testing or DNA fingerprinting

DNA testing involves analyzing specific regions of DNA taken from cells of individuals,
scenes of accidents or crime scenes. It is used:
- To determine if two DNA samples are from the same person thereby helping to
solve crimes.
- To determine the paternity and, in some cases, the maternity of a child.
- To identify a body.
- To detect genetic disorders or diseases before birth or early in life so treatment
can begin at an early age.
- To help genetic counsellors predict the likelihood that a child who is born to
parents who have a genetic disease, or are carriers of a genetic disease, will suffer
from the disease.
- To identify family relationships thereby reuniting families.
- To determine ancestral lines and create family trees.

• Gene therapy
Gene therapy is an experimental technique that involves altering genes inside body cells
to cure a disease or help the body fight a disease. It is currently being tested for use in
various ways:
- By inserting a functional gene into cells to replace a defective gene that causes a
disease.
- By inactivating or ‘turning off’ a defective gene that causes a disease.
- By introducing a gene into cells to help the body’s immune system to fight a
disease.

© M. Thompson-Williams 2024