SECTION C-HEREDITY AND VARIATION

DNA , CHROMOSOMES ,GENES 🧬

Chromosomes are present in the nuclei of all living cells. Each chromosome is composed of
a single deoxyribonucleic acid (DNA) molecule wrapped around proteins called histones.
DNA molecules contain genetic information in the form of genes.

Genes are parts of a chromosome that control individual characteristics.

In a diploid cell, chromosomes are found in homologous pairs.

In a haploid cell only one of each pair of homologous chromosomes is present.
Homologous chromosomes are a pair of chromosomes with similar structural features that
code for the same gene.
One from the pair comes from the mother while the other comes from the father.

The genetic information needed to control the human body is carried in 23 different
chromosomes. Human body cells are diploid, meaning they contain two copies of
each chromosome (46 chromosomes in total, 2n). Human sex cells (gametes) are
haploid, meaning that they contain one copy of each chromosome (23 chromosomes
in total, n).

GENES

Genes are specific sections of chromosomal DNA molecules and are the basic units of
heredity. Each gene controls a particular characteristic. Genes work by controlling the
production of proteins in cells, mainly the production of enzymes. Each gene controls the
production of a specific protein.

All the cells of one individual contain an identical combination of genes.

CELL DIVISION

HW: RESEARCH ON CELL DIVISON along with the two types; mitosis and meiosis

CELL DIVISION: cell division occurs when chromosomes with their genes are passed onto
the cells produced, known as “daughter cells.”

There are two types of cell division:

 - Mitosis
- Meiosis

MITOSIS

This is a type of cell division that results in the formation of two daughter cells with the same
number and kind of chromosomes as the parent cell.
- It occurs in all BODY CELLS (SOMATIC) except in the formation of GAMETES.
- Two genetically identical cells are formed.
- Each cell contains the diploid number of chromosomes .
- All cells produced from a single parent cell are clones.

https://youtu.be/f-ldPgEfAHI?si=mZ31md0_1kmF8jqK
Mitosis is important because:
- It ensures that each daughter cell has the same number and type of chromosomes as the parent
cell.
- It is the method by which all cells of a multicellular organism is formed, thus, it is essential
for growth and repair of damaged tissues.
- It is a method by which organisms reproduce asexually.

Meiosis (reduction division)

MITOSIS

1. Chromosomes become shorter and fatter (easily seen). Each

chromosome makes an exact copy of itself, forming 2 chromatids
joined together by a centromere.
2. The nuclear membrane breaks down and chromosomes line up
VARIATION

Variation refers to the differences between individuals of the same species, which
arises as a result of genetic makeup and environmental conditions.

Phenotype- expressed traits in an organism.

Genotype- genetic information of an organism.

PHENOTYPE= GENOTYPE + ENVIROMENTAL INFLUENCES

Genetic variation
This is a result of genetic inheritance from parents. It can be caused by:
- Meiosis: Every gamete produced by meiosis has a different combination of genes as a result
of; chromatids crossing over and exchanging genes, random assortment of chromosomes
during the first division of meiosis around the equators of spindles.
- Random fertilization: male and female gametes fuse in completely random ways during
sexual reproduction. This helps to create a different combination of genes in each zygote.
- Mutations: this is the change in structure of a single gene,where the amount or arrangement
of DNA has changed. This alters a characteristic. There are two types of mutation:
1. Gene mutation- change in arrangement of a single gene. Conditions caused by such
mutation include; albinism, Huntington’s Disease, sickle cell anemia.
2. Chromosomal mutation: this is a change in the number of chromosomes in a cell or a
change to the structure of chromosome . Conditions- down syndrome, turner syndrome,
Klinefelter syndrome, triple X syndrome
Variation

Environmental Variation

Environmental variation arises from the effects of the surroundings. Physical

characteristics can be affected by climate, diet, culture and lifestyle. Examples:
language, religion, body mass, skin colour.
There are 2 types of variation:

1. Continuous Variation

This refers to the range of forms of certain characteristics in a given population. It

shows a continuous gradation from one extreme to other without a break. It is
genetically determined and more likely to be influenced by environmental
conditions. Examples include height, body mass, length of forefinger, hand span.

2. Discontinuous Variation

This refers to clearly defined differences within a population. It is genetically

determined and is not influenced by environmental conditions. Examples include
blood group, sex, tongue-rolling ability.
Examples of genetic variation
Hair colour
Height
Eye colour
Blood group
Sex
Lobed/ lobe less ears

Importance of variation

It ensures the survival of a species by allowing individuals of a species to adapt to and

withstand changes of the environment.
Inheritance
Monohybrid Recessive Inheritance
This arises from the inheritance of 2 recessive alleles. The dominant allele controls
the normal condition.

Example:Albinism
The gene controlling the production of the pigment; melanin has two different alleles
which can be represented using letters:
- N: stimulates melanin production.
- n: fails to stimulate melanin production.

NN( HOMOZYGOUS DOMINANT) – PHENOTYPE: Normal pigmentation (skin, eyes, hair)

Nn (Heterozygous, carrier) : PHENOTYPE: Normal pigmentation of skin, eyes and hair.

nn(Homozygous Recessive : pure breeding) PHENOTYPE:Albino- very pale skin that fails to
tan, white or light blonde hair and VERY pale blue eyes.

GENETIC DIAGRAMS – CROSS DIAGRAMS

POSSIBLE CROSSES

Ratio: 1 : 1 : 1 : 1

100% Normal pigmentation

Summary (RMR this segment is for your own benefit to see if you comprehend the alleles and
terms)

Alleles generated: Nn (Heterozygous Normal pigmentation)

Nn(Heterozygous Normal pigmentation)
Nn(Heterozygous Normal pigmentation)
Nn(Heterozygous Normal pigmentation)

SINCE ALL ARE Heterozygous Normal pigmentation, THEN 100% of the first filial offsprings
have normal pigmentation.
Punnet Square
Co-dominance
Sometimes neither allele dominates the other, such that the influence of both alleles is visible in the
heterozygous individual. This is known co-dominance. Examples include sickle cell anaemia and
ABO blood groups

Sickle cell anaemia

The blood of a person with sickle cell anaemia contains abnormal haemoglobin S instead of
normal haemoglobin A. The disease is caused by an abnormal allele. The normal allele HbA
stimulates the production of normal haemoglobin A, the abnormal allele HbS stimulates the
production of abnormal haemoglobin S. These alleles show co-dominance.
Genotype Haemoglobin produced Phenotype
HBA HBA 100% Haemoglobin A Normal
HBA HBS 55-65% haemoglobin A Sickle cell trait
35-45% haemoglobin S Usually has no symptoms
Symptoms develop in very
low oxygenated areas eg
High altitude or during
extreme physical exercise.
RESISTANT TO
MALARIA
HBS HBS 100% haemoglobin S Sickle cell anemia
Symptoms develop which
included painful crises,
anaemia increased
vulnerability to infections
and jaundice .

ABO blood groups are controlled by three alleles, IA, IB, IO

• I and I are both dominant to I .
A B O

• I and I are co-dominant, i.e. there is no dominance

A B

between them.
Only two alleles are present in any cell.
For example, if one parent is heterozygous with blood group A and the other is heterozygous with
blood group B:

HW: One parent blood group O and one parent Homozygous dominant Blood group A
FIND PROPORTIONS and ratios

SEX INHERITANCE IN HUMANS

In each cell, one pair of chromosomes is composed of the sex chromosomes. There are two types X
and Y. Genotype of the female is XX and genotype of male is XY. Only the male can
pass on the Y chromosome, consequently the father is the parent who determines the sex of his
offspring.

Sex-linked characteristics

These are determined by genes carried on the sex chromosomes. Since chromosome X is longer than
chromosome Y, it carries more genes. Males only have one X chromosome and any allele is carried
on this chromosome ONLY, whether dominant or recessive, it will be expressed in the phenotype.

Examples:
1. Haemophilia
2. Colour-blindness
HAEMOPHILIA: ThIS IS WHERE the blood fails to clot at a cut. The dominant allele, H, clots blood
normally. Whereas, the recessive allele, h, causes haemophilia. These alleles are carried on the X
chromosome only. Males are more likely to be haemophiliacs.

Proportions
All females have normal blood clotting
 (50% of offsprings are females )
 25% male has normal blood clotting
 25%has haemophilia

TRY
EXAMPLES: A cross between a female with normal blood clotting, and a male with
haemophilia.
COLOURBLINDNESS
This is a sex-linked a sex-linked condition where the sufferer is unable to distinguish differences
between certain colours. The dominant allele, R, allows normal vision and the recessive allele, r,
causes colour blindness. These alleles are solely carried on the X chromosomes.

EXAMPLE: Female colourblind and male with normal vision.

Genotype Phenotype
XR XR Female, normal vision
 XR Xr Female, normal vision (carrier)
XR Y Male, normal vision
Xr Y Male, colourblind

GENetic engineering
This is known as recombinant DNA technology which involves changing traits of one organism by
inserting genetic material from a different organism into its DNA. The organism receiving the genetic
material is called a transgenic organism or genetically modified organism (GMO).

Importance of genetic engineering

- Improve the quality of a food product, e.g. by increasing nutritional value.
- Improve yields of livestock and crops i.e, by increasing size or growth rate.
-
 -

- Protect crops against threats eg pathogens, pests, herbicides and low temperatures
- Make organisms produce materials that they do not usually produce eg vaccines and drugs
along with hormones (insulin production for diabetics)

Examples

-These examples improve food production.

Golden rice:
Upon inserting two genes into rice plants, one from maize and one from soil bacterium, the rice grains
are stimulated to produce “beta-carotene” which helps the body to convert vitamin A.
It helps to:
- Fight vitamin A deficiency which is a leading cause of blindness and sometimes death in
children of developing countries.
-
Bovine somatotrophin (BST) hormone
By transferring the gene which controls the production of BST hormones from cattle into bacteria,
the bacteria produces the hormone and this is then injected into cattle in order to increase milk and
meat production.

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

Many drugs have been used in medical treatment due to genetic engineering

1. Insulin : by transferring the gene that controls insulin production in humans into bacteria , the
bacteria produces human insulin , which is used to treat diabetes.
Human growth hormone (HGH)
By transferring the gene controlling the production of HGH into bacteria, the bacteria now produces
the hormone and this is used to treat growth disorders in children.

Hepatitis B vaccine
By transferring the gene controlling the production of hepatitis B antigens (FOREGIN PARTICLE
that enters the body) by hepatitis B virus into yeast, the yeast produces the antigens, which are used
as a vaccine.

Other drugs produced by genetic engineering

- Blood clotting drugs (for haemophiliacs)
- FSH is used to stimulate the ovaries release 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
- HPV (Human papilloma Virus) vaccine

ADVANTAGES
- Vaccine are generally safer as they do not contain live or weakened or even dead pathogens.
- It overcomes ethical concerns of obtaining drugs from certain animals eg insulin used to
be obtained from pigs and cows.
DISADVANTAGES
Lack of understanding of the impact on human health and the environment
- Can be toxic to useful organisms (insects), reducing pollination and reproduction in crops
and reducing food production.
- Plants which are GMOed to be resistant to pests and herbicides could create unpredictable
environmental issues eg pesticide: resistant pests , herbicide resistant “superweeds”
- Once genetically modified organisms are released into the environment it cannot be
contained. Negative effects are irreversible.
- Allergens are increased, transferring genes causing allergic reactions
- Unknown health risks can occur
- Larg companies are funded and are able to develop GMOs so they make profits at the expense
of smaller companies
- Moral and ethical issues (altering genes)