CHAPTER 5

INHERITANCE

5.1 MENDEL EXPERIMENT

The passing on genetic instructions from
generation to generation is called inheritance.
The scientific study of inheritance is called
genetics.
It was in the 1850s that the study of inheritance
began.
Discoveries made by Gregor Mendel, an Austrian
monk, contributed to the basis of modern
genetics.

MENDEL EXPERIMENT
Mendel chose pure-breeding pea plants to study the
inheritance of several characteristics.
A pure-breeding plant is obtained after many
generations of self-pollination.
They produce identical offspring and the offspring show
the same traits as their parents.
Table 5.1 shows the difference in meaning between
characters and traits.
Character

Trait

Plant height

Tall or short (dwarf)

Seed colour

Green or yellow

Seed shape

Round or wrinkled

MENDELS RESULT
In one of his experiment, Mendel chose two
parent plants, one a pure-breeding tall plant and
other a pure breeding short plant.
He called this generation the parental
generation or P generation.
He carried out cross-pollination on the two plants
by transferring the pollen grains from the tall
plant onto the stigma of the short plant.
He collected the seed, planted them and found
that all grew to become tall plants.
The results of the parental cross appeared in the
first generation called the first filial generation
or F1 generation.

Mendels experiment with tall and short pea

plants

5.2 Schematic diagram of Mendels Experiment

 Mendel then allowed the plants of the F1 generation

to self pollinate to produce the second filial
generation or F2 generation.
He discovered that when he planted the seeds from
the F2 generation, about three quarters of the
offspring were tall and one quarter was short. The
ratio tall to short is 3:1.
Mendel found similar results when he crossed
pure-breeding pea plants for each of the other
characteristics.

Character and traits of pea plants studied by

Mendel

A pair of homologous chromosomes

From the results of his experiments, Mendel concluded

that:
a) Inheritance depends on the transfer of heredity factors from
parents to offspring. There is a heredity factor that determine a
particular characteristics.
b) Each characteristic is controlled by a pair of factors.
c) The factors are passed from generation to generation unaltered.
d) The factors may be dominant or recessive. Some factors are not
expressed in every generation.
e) The factors segregate or separate during gamete formation so
that each gamete contains only one pair of factors for a given
characteristic.

Genes and alleles

Genes are the basic units of inheritance which occupy specific positions
on chromosomes.
The position of the gene is called its locus.
Gene determine specific characters in an organism.
For example, in Mendels experiments there is a gene which determine
height of the pea plants.
The height of the pea plant is expressed as tall or short.
It is determined by factors called alleles.
Alleles are different forms of the same gene for a trait and occupy the
same relative position on a pair of homologous chromosomes.
For example, there is an allele for the tall and an allele for the short trait.
Alleles also appear in pairs.

Dominant & recessive alleles

Dominant allele will mask or cover the effect of the
recessive allele.
A recessive allele only express itself when the dominant
allele is absent.
A dominant allele is represented by a capital letter, for
example, T for tall.
A recessive allele is represented by a small letter, for
example, t for short.
If the organism is pure-breeding tall, we represent it by
TT.
If it is pure-breeding short, we represent it by tt.
Tt stands for hybrids of the F1 generation.
Hybrid are offspring o parents differing in at least one
cahracteristic.

Phenotype and genotype

Phenotype is the observable characteristics of an
organism like colour, size, form and structure.
Example of phenotype are the various traits like
tall and short plants, round and wrinkled, and
yellow and green seeds.
Genotype refers to the genetic composition of an
organism and cannot be seen.
The genotype TT and Tt indicate tall pea plants
The genotype tt shows the phenotype for short.

Homozygote and heterozygote

Homozygote two same allele such as TT(tall)
and tt(short)
Heterozygote two different allele such as Tt
(tall)

Importance of meiosis I in the segregation

of allelles
In meiosis I, during metaphase I, the homologous
chromosomes are arranged on the equator.
During anaphase I, the homologous pairs separate
and each pair moves to the opposite poles.
On each pair of homologous chromosomes, there
are many pairs of alleles controlling different traits.
When the homologous chromosomes separate, the
pairs of alleles also segregate.
At the end of the meiosis process, only one allele for
each trait is found in each gamete.

Mendels First law of Inheritance

THE LAW OF SEGREGATION
The members of each pair of alleles separate or
segregate during the formation of gametes. Only
one allele can be carried in a single gamete
Monohybrid cross : involve only one character
Monohybrid inheritance : A cross which involves a
single characteristic determined by one gene
Dihybrid inheritance : A cross which involves two pairs
two pair of allele determining two characteristics.

Dihybrid inheritance

Mendels Second Law of Inheritance

THE LAW OF INDEPENDENT ASSORTMENT
Two or more pairs of allele segregate
independently of one another during the
formation of gametes.

5.2 INHERITANCE OF TRAITS IN HUMAN

The ABO system

Autosome and sex chromosome
Different type human karyotypes
Sex determination in offspring
Sex-linked inheritance
Haemophilia
Colour blindness
Other heredity diseases

The ABO System

Some traits in human are controlled by more than two alleles.
The ABO system, is an example of a trait that is controlled by
multiple allele.
Multiple allele means there are more than two possible allele for a
particular gene.
There are four blood groups within the ABO system namely O, A,
B and AB.
These blood groups are determine by three alleles.
They are allele A, allele B and allele O.
Each individual carries only two of the three alleles.
The three alleles can be written as I A,IB and IO.
Alleles IA and IB are dominant to allele IO.
Allelle IA and IB show codominance. This means when both alleles
are present, they both have an effect.

Human blood groups and genotype

Blood Group
(phenotype)

Possible genotype

Blood group A
Blood group B
Blood group AB
Blood group O

IAIA or IAIO
IBIBor IBIO
IAIB
IOIO

Use your knowledge on Mendels First Law to draw a

schematic diagrams and show the inheritance of ABO blood
group and the genotypes of offspring from the following:

A father with blood group AB and a mother with

blood group A (heterozygous)
A father blood group is O and a mother with
blood group AB.

Do you know that ?

If two different blood types are mixed
together, the blood cells may begin to
clump together in the blood vessels,
causing a potentially fatal situation.
Therefore, it is important that blood types
be matched before blood transfusions take
place. In an emergency, type O blood can
be given because it is most likely to be
accepted by all blood types. However,
there is still a risk involved.

 A person with type A blood can donate blood to a

person with type A or type AB. A person with type
B blood can donate blood to a person with type B
or type AB. A person with type AB blood can
donate blood to a person with type AB only. A
person with type O blood can donate to anyone.
A person with type A blood can receive blood
from a person with type A or type O. A person
with type B blood can receive blood from a
person with type B or type O. A person with type
AB blood can receive blood from anyone. A
person with type O blood can receive blood from
a person with type O.
Because of these patterns, a person with type O

The Rhesus factor

The Rhesus factor is a group of antigens in red blood cells.
This antigens will cause agglutination when it react with
antibodies from individuals without this antigen.
The Rhesus factor is controlled by a pair of alleles.
If an individual has the Rhesus factor, he is known as Rhpositive.
If he does not have the Rhesus factor, he is known as Rhnegative.
The Rh allele is dominant to the rh allele.
The inheritance of the Rhesus factor follows Mendels Law.
An individual who is Rh-positive has the genotype Rh-Rh or
Rh-rh.
An individual who is Rh-negative has the genotype rh-rh.

Inheritance of Rhesus factor

 The Rhesus factor can become a problem when a

Rh-negative person receives Rh-positive blood
during blood transfusion.
For the first transfusion, there is no reaction.
In subsequent transfusions, the recipients blood
in the body of recipient reacts by producing Rh
antibodies.
This results in agglutination with the receivers
blood.

Autosomes and sex chromosome

Each human somatic cell has 46 chromosomes.
In the human male:
The chromosome are arranges into 22 homologous pairs
which are identical in size and shape.
In addition, there is one odd pair made up one larger
chromosomes and one smaller chrmosome.
The larger chromosome is called the X chromosome, while the
smaller chromosome is called the Y chromosome.

In the human female:

There are 22 homologous pairs of chromosomes.
In addition, there is a pair of X chromosome

The 22 homologous pairs are called the autosomes

The X and Y chromosome in the male, and the X and X
chromosomes in the female are called the sex
chromosomes which determine the sex of an organism.

 When chromosomes are arranged and numbered

by size, starting from the largest pair to the
smallest pair their form what is called a
karyotype for an individual.
The autosome are numbered 1 22 and the sex
chromosome are numbered 23.

The karyotype of a normal male

The karyotype of a normal human female

Observe the following human karyotype

Different human karyotypes

The cells of individuals with a genetic disease or
genetic disorder show a karyotype that is
different from that of a normal human being.
For example, an individual with Downs
syndrome shows a karyotype different from that
a normal individual.

Sex determination in offspring

In somatic cells of a human male there are 44+XY
chromosome.
In the female, there are 44+XX chromosome.
A male produces two types of sperms. One carries a
Y chromosome and the other an X chromosomes.
The female only produces ova with X chromosomes.
During fertilisation, when a sperm carrying a Y
chromosome fuses with an ovum carrying an X
chromosome, a male offspring is produced.
However, when a sperm carrying an X chromosome
fuses with an ovum carrying an X chromosome, a
female offspring is produced.

 Draw a schematic diagram to show the sex

determination in offspring.

Sex-linked inheritance
Genes that control various traits which are found
on the X and Y chromosome are called sex-linked
gene.
The Y chromosome is shorter than the X
chromosome.
It does not have many alleles that are found on the
comparable portion of X chromosome.
Hence, in the male, any trait caused by a dominant
or recessive allele that is found on the X
chromosome, will be expressed.

Haemophilia
Haemophilia is a condition which the blood does not
clot normally.
This condition is due to the lack of a protein needed
for normal blood clotting.
If often results in excessive bleeding.
The ability to produce a protein for the blood to clot is
due to a dominant allele.
An individuals inability to produce the protein is
caused by a recessive allele found on the X
chromosome.
Individual who suffer from hemophilia are called
hemophiliacs.
Hemophiliacs can bleed to death from minor wounds.

 We can show the inheritance of haemophilia by

using letters.
To represent the normal dominant allele on the X
chromosome, we use XH.
The genotype for normal female is XH XH . The
genotype of a heterozygous normal female is X H Xh
. Heterozygous females are known as carrier of
disease.
A normal male XH Y and haemophiliac male is Xh
Y.

 A sex-linked gene shows a criss-cross method of

inheritance.
This means the inheritance is from father to
daughter and mother to son.
This is due to the fact that the Y chromosome
carries no such homologous allele on the same
locus.

Schematic diagram of the sex-linked

inheritance of haemophilia

 From the example, it can be seen that the

haemophilia gene is passed from the mother to son.
The probability of getting a normal son or a
haemophiliac son is 0.5.
The daughter are all normal but it is 50% likely that
one of the daughters is carrier.
The probability of the son to be a haemophiliac is
higher compared to the daughter.
This is because the recessive haemophilia gene is
able to express itself in a male individual.

Colour blindness
Colour blindness is a condition in which colours
cannot be distinguished.
In most cases, a person who suffer from this condition
is unable to distinguish between red and green colours.
Colour blindness is caused by a recessive allele carried
on the X chromosome.
The pattern of inheritance of this condition is similar
to haemophilia.
We can represent a normal vision gene as XC and a
colour blind gene as Xc.

Thalassaemia
Thalassaemia is a childhood disease.
This disease is caused by a recessive gene and
affects the haemoglobin in the red blood cells.
The red blood cells of a person with
Thalassaemia are smaller.
They may be deformed and pale in colour.
This is because the haemoglobin content is less.
Thalassaemia is common among people in
Mediterranean and South-East Asian countries.

Huntingtons disease
Huntington disease is caused by a single gene
mutation which causes nerves to degenerate.
This causes brain cells to die leading to
behavioral changes and loss of mental powers.

5.3 GENES & CHROMOSME

A gene is the basic unit of inheritance and has a
specific location or locus on a chromosome.
A chromosome is a thread-like structure found
in the nucleus. Each chromosome is made up of
a long DNA molecule coiled around protein
molecules called histon.
A DNA molecule contains thousands of genetic
codes while the protein molecules do not carry
any genetic information.

 The DNA molecule consists of two polynucleotide

chains twisted about each other to form a double
helix structure.
Each polynucleotide chain is made up of many
nucleotides through condensation.
Each nucleotide is made up of a deoxyribose sugar, a
nitrogenous base and a phosphate group.
There are four different bases, thymine (T), adenine
(A), cytosine (C) and guanine (G).
Adenine is linked to thymine while cytosine to
guanine by hydrogen bonds.
The sequence of the bases forms the genetic codes.
The genetic codes determine the characteristics of an
organism through the synthesis of proteins.

A nucleotide

Structure
of DNA

Application of knowledge in genetics

Genetic knowledge and research are widely used
in selective breeding and genetic engineering.
DNA fingerprinting and the human genome
project are two major fields involving genetic
knowledge.

Selective breeding
Desireable characteristics in plants and animals
can be produced through selective breeding.

Genetic engineering
Genetic engineering or recombinant DNA
technology is the modification of the
characteristics of an organism by manipulating
its DNA.
Genetic modified organisms (GMO), genetically
modified food (GMF), gene therapy and
production of medicine are applications of
genetic engineering.

Genetic modified organisms (GMO)

Genetic codes of an organism can be altered,
added or taken out to produce new desirable
characteristics.
For example, the transfer of a gene from a firefly
to a tobacco plant enables the plant to glow in
the dark.

Genetically modified food (GMF)

Genetic codes from bacteria can be transferred
to crops such as maize plants to protect plants
from pests.
GMF gives higher yield, pest resistance, enhance
quality, last longer and increases nutritional
values.

Gene therapy
Gene therapy is the insertion of genes into an
individuals cells to treat heredity disease such as
sickle-cell anemia.

Production of medicine or drugs

A genetically modified form of insulin can be
produced by inserting human insulin gene into
the E.coli bacteria.

DNA FINGERPRINTING
DNA fingerprinting is a technique used to
analyse a persons DNA fragments.
Certain nucleotide segments of the DNA do not
code for proteins and exist as repeated short
sequences of bases.
DNA of a person is obtained from sample of
semen, hair or blood and is cut into fragments
using specific enzyme.
The DNA fragments are separated and arranged
to form specific band pattern.
Each person has his own set of DNA except for
identical twins.

Uses of DNA fingerprinting:

To identify criminals from samples of blood,
saliva, hair or semen collected at the scene of
crime.
To settle paternity disputes
To detect genetic diseases
To test compatibility of potential organ donor
with recipient
To confirm genotypes of animals and plants

HUMAN GENOME PROJECT

A genome is an organisms complete set of genes.
The project aims to map the position of the genes,
to read and decode every code in the 46 human
chromosome.
Advantages of the human genome project:
To understand the mechanism of a genetic disease
and find ways to prevent the disease
To obtain information for diagnosis, treatment and
possible prevention of disorders or diseases such as
cancer, diabetes and heart diseases.