Genetics or Heredity

History

Gregor Mendel looked at a number of different characters in pea plants and the way in which they were
inherited. One characteristic that he looked at was height; pea plants are either tall or short.

He chose plants which had bred only tall for several generations (pure-breeding tall plants) and pure-
breeding short plants and crossed them. The offspring were all tall.

The tall plants of the first generation, i.e. the first filial generation (F1) were then crossed among
themselves. In the second generation (F2) there were 1064 plants, 787 tall and 277 short; a ratio of 3:1.

F2 Generation explained:

The diagrams above, illustrate the inheritance of height in peas in terms of alleles. These are forms of a
gene. An organism which has two similar alleles for a given trait is said to be homozygous for that
trait.

If the alleles are different, the organism is heterozygous for that trait.

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Height in pea plants is controlled by two alleles, one for tallness and one for shortness. The dominant
allele is always expressed physically in the individual. It is always represented by a capital letter. The
recessive allele if paired with a dominant allele is not expressed physically. It is always represented by
a common letter.

The genetic make-up of the organism is referred to as its genotype.

The physical expression of the genes is referred to as its phenotype. E.g. height, eye colour

In the example above, the trait, height in pea plants, T represents the allele for tall; t represents the
allele for short.

Genotype description Genotype Phenotype

Homozygous dominant TT tall
Homozygous recessive tt short
Heterozygous Tt tall

Incomplete dominance

In some cases, one allele does not show a clear-cut dominance over the other. Though heterozygous,
the dominant allele does not completely mask the expression of the recessive. This is seen in flower
petal colour (e.g. Impatiens).

Genotype Phenotype
RR Red
rr White
Rr Pink

Co-dominance

In co-dominance, both alleles are expressed equally in the heterozygous genotype. An example of this is
the ABO blood group system.
Genotype Phenotype
In this system, alleles A and B are dominant over allele A A A O
I I ,I I A
O. A and B are co-dominant and allele O is recessive to IBIB, IBIO B
all the other genotypes. IAIB AB
IOIO O

Back cross or test cross

It may be necessary to find out whether a dominant phenotype is homozygous dominant or

heterozygous. To do this, the dominant phenotype is crossed with a homozygous recessive individual.

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If the animal being tested is homozygous dominant, then all offspring should be the dominant
phenotype only. If it is heterozygous, then there should be both dominant and recessive phenotypes in
the offspring.

Sickle cell anaemia

This is a condition where an abnormal haemoglobin is produced. Under conditions of low oxygen
concentration, the red blood cells with abnormal haemoglobin become sickle-shaped. These cells may
break down and block blood vessels, causing pains in the joints, jaundice and anaemia. Allele A
produces normal haemoglobin A (HbA); allele S produces abnormal haemoglobin S (HbS).

Genotype Phenotype
AA All haemoglobin is HbA, person is normal
SS All haemoglobin is HbS, person suffers from sickle cell anaemia
AS 30-40% haemoglobin is HbS, person suffers from sickle cell trait

Inheritance of sex and sex linkage

In humans, one pair of the 23 pairs of homologous chromosomes is called the sex chromosomes, since
the way in which they are inherited determines sex. The chromosomes are known as X and Y. An
individual with two X chromosomes is female; X with Y gives male.

Sex-linked diseases

Each chromosome carries many genes. Genes which are carried on the same chromosomes are said to
be linked because they are inherited together. Genes on the sex chromosomes X and Y are said to be
sex linked because the traits they carry are inherited along with the sex.

The X and Y chromosomes are not identical in structure so that there is a portion of the X chromosome
which carries alleles for which there is no corresponding portion on the Y chromosome. Traits
controlled by these alleles are called sex linked traits.

Two common sex-linked diseases are haemophilia and red-green colour blindness. Both are determined
by recessive alleles.

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Haemophilia

 Disease where blood does not clot properly

Genotype Phenotype
XHXH Female with normal blood clotting

XhXh Haemophiliac female

XHXh Carrier (female with normal blood clotting who can pass on the haemophilia
gene to offspring)
XHY Male with normal blood clotting

XhY Haemophiliac male

Red-green colour-blindness

 Disease where the individual cannot distinguish between red and green

Genotype Phenotype
XCXC Female with normal sight

XcXc Colour-blind female

XCXc Carrier (female with normal sight who can pass on the red-green colour
blindness gene to her offspring)
XCY Male with normal sight

XcY Colour-blind male

Pedigree charts

Since genetic ratios do not hold for humans, the absence or presence of a particular trait is recorded
from generation to generation. This is used to construct a genetic family tree called a pedigree chart.

The following rules are applied:

 Circles represent female and squares

represent males
 The presence of a character or trait is
represented by a solid square or circle. A
blank shape represents the absence of the
trait.
 Half-filled squares or circles represent
carriers
 Roman numerals represent generations. Arabic numerals represent individuals.
 Horizontal lines between individual represent mating. Offspring are shown by vertical lines off
the mating lines. Offspring are linked by the same horizontal line.

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