HEREDITY AND GENETICS (pg 296)

Variation: the differences in physical appearance between individuals of the same species and
between difference species.
Variation occurs because of 1) the genotype or genetic makeup and 2) the environment.
There are 2 types of variation:
 Continuous variation is where the different types of variations are distributed on a
continuum. The differences are slight and merge into each other eg. height, foot size, leaf size
 Discontinuous variation is where the different types of variations are placed into discrete
categories. The differences are clear cut, they do not merge eg. human blood groups, tongue
rolling, presence or absence of horn in cattle.

Definitions:
-Allele: different forms of a gene
-Dominant gene: the gene that is expressed physically
-Recessive gene: the gene that is only expressed physically, if the dominant gene is not present.
-Genotype: the genes that you have on your chromosomes inside your cells.
-Phenotype: the genes that are physically expressed.
-Homozygous: this is when both alleles are the same.
-Heterozygous: this is when both alleles are different.

1) DOMINANCE: a gene may have more than one form or allele. If the alleles are different, one
may mask the expression of the other. The one that is expressed (visible in the organism) is
called the dominant allele, and the one that is masked is the recessive allele. We use capital and
common letters to represent the different alleles.

Eg. In the gene for hair colour, B represents the allele for black hair and b represents the allele
for red hair. Black hair B is dominant to red hair, b; and red hair b is recessive to black hair, B.
The dominant allele is expressed in the homozygous (BB) or heterozygous (Bb) genotype,
whereas the recessive allele is expressed only in the homozygous (bb) genotype.

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2) CO-DOMINANCE: in co-dominance, there is expression of both alleles in the heterozygous
genotype. For eg. Co-dominance is found in ABO blood groups in man. Blood group is
controlled by three different alleles. They are IA, IB and IO. IA and IB are equally or co-dominant
to each other and both are dominant to IO.

GENOTYPE PHENOTYPE
IAA Blood group A
IAO Blood group A
IBB Blood group B
IBO Blood group B
IAB Blood group AB
IOO Blood group O

Eg. What are the possible blood groups of children whose parents are blood group A
(heterozygous) and B (homozygous)?
The heterozygous genotype for blood group A is IAO
The homozygous genotype for blood group B is IBB This is an example of a Punnet square:

Offspring blood type: 50% blood type AB; 50% blood type B.

3) SEX DETERMINATION: of the 23 pairs of chromosomes in any human cell, one pair
determines the sex of the organism. There are two types of sex chromosomes, X an Y. The
genotype XX is female and the genotype XY is male in humans.

Eg. The diagram below shows the inheritance of sex in humans. Each time a couple has a child,
there is a 50% possibility it could be a boy and 50% possibility it could be a girl.

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4) SEX –LINKED CHARACTERISTICS: The sex chromosomes also carry genes other than
those which determine sex. The characteristics of those genes are said to be sex-linked and they
are carried on the X chromosome. Sex-linked characteristics include haemoplilia and colour
blindness.

Eg 1) Haemophilia or bleeder’s disease: the dominant allele, H causes blood to clot normally.
The recessive allele, h causes haemophilia, a condition in which blood does not clot and any
small cut will bleed for a long time.

Genotype Phenotype
X HX H Female, normal clotting of blood
X H Xh Female, normal clotting of blood. She is a carrier since she
carries the recessive allele but it is not expressed
XhXh Female, a haemophiliac
X HY Male, normal clotting of blood
XhY Male, a haemophiliac

Eg. A carrier female married a normal male. What is the possibility of their having a
haemophiliac child?

Eg 2) Red-green colour blindness: Although known as red/green colour blindness this does not
mean sufferers mix up red and green, it means they mix up all colours which have some red or
green as part of the whole colour. For example, a red/green colour blind person will confuse a
blue and a purple because they can’t ‘see’ the red element of the colour purple.
Let N = dominant normal gene
Let n = recessive gene for red-green colour blindness

Eg. A normal female married a colour blind male. What are the possible phenotypes of their
offsprings.

Offspring phenotype: 2 carrier females, 2 normal males.

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5) Sickle cell anaemia: this is caused when the gene that determines the shape of the
haemoglobin in red blood cells has mutated or changed. The amino acid glutamic acid is
replaced by valinine and this is inserted into the haemoglobin molecule. The effect is that the red
blood cells look sickle shaped and carry less oxygen. This causes anaemia. In the homozygous
condition the person suffers from sickle cell anaemia which causes severe joint pains, anaemia,
kidney failure, and can lead to death. However in the heterozygous condition only mild anaemia
occurs. In this case the Plasmodium parasite which causes malaria cannot live. These people
would survive malaria so the heterozygous condition is selected in these areas.

Genotype Phenotype
HbNN All red blood cells are normal, the person is normal
HbSS All red blood cells take the sickle shape, the person suffers from sickle cell
anaemia. This can lead to death
HbNS 30-40% of the red blood cells are sickle shaped, the person suffers from sickle
cell trait.

i) If two people with the sickle cell trait were to marry, what are the possible genotype and
phenotype of their offsprings.

6) Albinism: is a defect of melanin production. Melanin is a natural substance in the body that
gives color to your hair, skin, and iris of the eye. It occurs when a change in the sequence of
amino acid changes the protein made. This prevents the production of the black pigment
melanin.

Eg. An albino man marries a normal homozygous female. What is the chance of them having an
albino child? Normal is dominant over albino.
Let A = normal
Let a = albino

All children will be normal. 0% chance of an albino child.

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7) Chromosomal mutation: this is where the whole chromosome is affected eg. Down’s
syndrome. This is a hereditary disease. In Down’s syndrome the zygote receives an extra
chromosome. This occurs on chromosome # 21. In Down’s syndrome the child is mentally
retarded, have short arms and legs, internal defects, abnormal facial traits. This can occur when
the mother is older, over 40’s.

PEDIGREE CHARTS
This chart shows the occurrence of a particular characteristic in a family tree.