Inheritance

Inheritance the passing down of genetic

instruction from one generations to the
next generations

 The scientific study of inheritance is called

genetics

 Genetics is the study of how variations

arises and how characters of individuals
are passed on from one generations to the
next

 Gregor Mendel father of genetics

Monohybrid inheritance
Mendel performed cross pollination with
pure breeding pea plants

 Mendel choose two contrasting parent

plants:
Pure breeding tall plant
Pure breeding short plant

short

 Mendel concluded :
Inheritance depend on the transfer of
hereditary factors from parents to offspring
Each character is controlled by a pair of
factors

 These factors may be dominant or recessive

The hereditary factors that is described by
Mendel are called genes

The term used in the study of

inheritance
Genes and alleles
Genes are basic unit of inheritance which
occupy specific position in chromosomes

 Gene occupies a specific site called locus

on a chromosomes

 Alleles are alternate forms of the same

gene occupying the same relative position
on a certain pair of homologous
chromosomes

 Example :
the gene for stem length has two alleles one
for a tall trait and other for short trait

alleles

Locus of genes for stem length

Phenotype and genotype

Phenotype the traits of characters in an
organisms
Colour, size, structure

 Genotype the genetic composition of an

organism which is not manifested
Represented by the alleles present
TT, Tt

Dominant and recessive alleles

Dominant alleles allele that can manifest
itself and cover the effect of the recessive
allele

 Recessive alleles allele that can

manifest itself when there is no dominant
allele

 Dominant allele is represented by capital

letter T
Recessive allele is represented by a small
letter - t

Homozygote and heterozygote

if both alleles at a give locus is the same
the genotype is called homozygous
TT

 If the alleles at a given locus are different,

the genotype is called heterozygote

 TT tall (homozygous domonant)

Tt tall (heterozygous)
tt short (homzygous recessive)

Mendels first law of segregation

The characters of a diploid organisms are
determined by alleles which occur in pairs
The two alleles of a gene separate from
each other during the formation of genes

 Only one allele is carried in a gamete and

the gametes unite randomly during
fertilisation

 Resultant offspring receive one allele from

its male parent and one from its female
parent

Both pea plants are pure breeding

Carries homozygous alleles
Alleles are located at the same
position

Metaphase I homologous
Chromosomes are arranged at
The equator
Anaphase I homologous pair
Separate and moving to opposite
Poles

End of meiosis only one allele for each

Trait is found in each gamete
After random fertilisation F1 generation
Plant has one pair of alleles of the same
Length character

When the plants of F1 generation were allowed to

Self pollinate. It will result in F2 generations with different
Genotype combinations TT, Tt, tt

Dihybrid inheritance
Mendel continue his experiment by
crossing pea plants to study the
inheritance of two pairs of contrasting traits

 Mendel carried out dihybrid crosses

between pure breeding pea plants

Parental

Pea plant seed B

Pea plants seed A

Round
yellow

Wrinkled
green

Parental
genotype

RRYY

rryy

ry

gametes

RY

Phenotype

F1 genotype

RrYy

F1 fenotype

F1 x F1

All round and yellow

seeds
RrYy

RrYy

F1 x F1

gametes

RY

RrYy

Ry

rY

ry

RrYy

RY

Ry

rY

ry

Punnett square

Gametes
from one
parent
Gametes
From the
Other parent

RY

Ry

rY

ry

RY

RRYY

RRYy

RrYY

RrYy

Ry

RRYy

RRyy

RrYy

Rryy

rY

RrYY

RrYy

rrYY

rrYy

ry

RrYy

Rryy

rrYy

rryy

 9
Round
And yellow
seeds

3
Round and
Green seeds

3
Wrinkled and
Yellow
seeds

: 1
Wrinkled and
Green seeds

 F2 genotype :
RRYY, RRYy, RrYY, RyYy round yellow
RRyy, Rryy round green
rrYY, rrYy wrinkled yellow
rryy wrinkled green

 Four different phenotypes are produced by

the nine different combinations of the
genotypes

Law of Independent Assortment

Second law on inheritance
Two or more pairs of alleles segregate
independently of one another during the
formation of gametes.

 Therefore traits are inherited by the

offspring independent of one another

 Main concept of this law are:

1.Segregation of alleles for the shape of the
seeds does not affect the segregation of
alleles for the colour of the seeds

2. The alleles segregate independently

because they are located on different
chromosomes

3. the law explain the production of gametes

with different allele combinations
new combinations recombinations
leads to genetic variations

 The result of dihybrid inheritance are

explained in terms of the behaviour of the
chromosomes during meiosis

Independent assortment produces four equal likely allele combinations

during meiosis

The ABO blood group system in

humans
Multiple alleles means there are more than
two possible alleles of a particular gene
that control a specific character

 ABO blood group system in humans is an

example of a character that is controlled
by multiple alleles

 These blood groups are determined by

three different alleles of a single gene
called the I gene

IA , IB, IO
Recessive
Dominant

 If both allleles IA and IB are present neither

dominates the other (codominant)

Phenotype (blood group) Genotype

A

IAIA, IAIO

IBIB, IBIO

AB

IAIB

IOIO

 IA represent antigen A
IB represent antigen B
These antigens are secreted onto the
surface of the red blood cells

Blood type A

Antigen A

Anti-B antibody

 Antibodies are present in the blood serum

of each blood group

Phenotype
(blood
group)

Antigens
on
red
blood
cells

Antibodies
Can
donate
Can
receive
present
blood
to
blood
from
in
blood
blood
groups
blood
groups
serum

Anti-B

A, AB

A, O

Anti-A

B, AB

B, O

AB

A and B

None

AB

AB,
O A, B,

None

Anti-A,
anti-B A,B,AB,
O

 Io does not have any antigen

 Antibodies are present in each blood

group

 Type A blood has type B antibody (antiB)

 Type B blood (antigen B) injected into a

person with type A blood
- anti-B in blood type A cause the blood to
agglutinate

 Type AB blood has no antibodies

- can receive blood from other blood
groups
- universal recipients

 Type O blood has no surface antigen

- if injected into a person with blood group
A, B or AB do not cause the type O blood
to clump together

- type O universal donor

The Rhesus factor

Rhesus factor is an antigen present on the
surface of red blood cells

 This antigen results in agglutination when

it reacts with the antibodies from
individuals without this antigen

 The Rhesus factor is controlled by a pair

of alleles
Rh (dominant allele)
rh (recessive allele)

 Individual with Rhesus factor is known as

Rh-positive (Rh+)

 Genotype of Rh-positive individual

Rh-Rh ( homozygous dominant)
Rh-rh (heterozygous )

 If a human does not have Rhesus factor

known as Rh-negative
Rh-negative individuals are homozygous
recessive (rh-rh)

 The inheritance of the Rhesus factor

follows Mendels first law

Examples:

A man who is homozygous Rh-positive

marries a woman who is Rh-negative.
What are the chances of their children
being Rh-negative

Phenotype

Rh-positive

Parents :
genotype
Gametes

Rh-Rh

Genotype of
offspring

Phenotype of :
Offspring

Rh-negative
X

Rh

rh-rh
rh

Rh-rh

Heterozygous Rh-positive
all children are Rh-positive
none are Rh-negative

Parents
:
Phenotype

Rh-positive

Genotype

Rh-rh

Gametes :

Genotype off :
offspring

Phenotype of :
offspring

Rh

Rh-negative

rh

Rh-rh

Heterozygous
Rh-positive

rh-rh

rh

rh-rh

Homozygous
Rh-negative

50% chance of having a child who is Rh-negative

 Rhesus factor can be a problem when a

Rhesus-negative person receives Rhpositive blood during blood transfusion

First transfusion does not

Result any reaction

Second transfusion recipient

Blood reacts by producing
Rhesus antibodies

Agglutination of the donors blood

- Lead to death

Pregnant mother (Rh-negative)

First baby has Rh-positive
-Fragment of babys blood
may enter the mothers blood circulation

Mothers immune system

Produce Rhesus antibodies

Treatment
-Replace babys blood with Rh-negative
Blood
- Injection of anti-Rhesus antibodies

Second baby will die

Rhesus antibodies enter
The foetuss blood circulatory
system through the placenta

The antibodies is not sufficient

To cause any effect on the firstborn

Second baby
-If the foetus is Rhesus-positive
-Antibodies from the mother can cause
babys blood to agglutinate

Autosomes and sex

chromosomes
Autosomes 22 homologous pairs in
male and female
Control all characteristics of the somatic
cell
Do not carry genetic information for sex
determination

 Sex chromosomes carry genes that

determine the sex of an organism

 Male XY
Female - XX

 X chromosome is larger than the Y

chromosome

 Y chromosome is much shorter than the

X chromosome and it carries fewer
genes

 Male 44 + XY
Female 44 + XX

Different human karyotypes

When homologous chromosomes are
arranged from the largest pair to the
smallest pair and numbered according
to size the form the karyotype of an
individual

 Karyotypes are identical in all diploid cells of

an organism

 Autosomes are numbered 1-22

Sex chromosomes 23

 Cell of an individual with a genetic

disease show different karyotype from
the normal human being

 Down syndrome
2n + 1
45 + XX / 45 + XY

 Downs syndrome karyotype

Extra chromosomes
Number 21

 Phenotype :

Slanted eyes
Small nose
Large tongue
Short, wide arms
Low immunity
Mental retardation

Sex determination in offspring

Sperm carries either Y chromosomes or
an X chromosomes
Meiosis produced :
22 + X
22 + Y

 A sperm with an X chromosomes (22 +

X ) combines with an ovum (22 + X) the
zygote that is produce contains XX
chromosomes
Female offspring

 The sex of the offspring is determined

by the male parent

 The probability having a boy is 50% and

the probability of having a girl is also
50%

Parents :

father

mother

Parent's :
genotype

44 + XY

Gametes :

22 + X

Genotype of
offspring

44+XX 44+XX

female

44 + XX

22 + Y

female

22 + X

22 + X

44+XY 44+XY

male

male

 All ova carry the X chromosomes

Sex-linked inheritance
Sex-linked genes refers to the genes
carried on the X chromosomes
Y chromosomes does not carry sex
linked genes

 Y chromosomes is shorter and carry

less genes/allele

 In male any trait caused by a dominant

or recessive allele present on the X
chromosomes will be manifested fully

 Genes on the X chromosomes are

present in two copies in females but
only one copies in males
X

 Male offspring must inherit the Y

chromosome from their father and,
therefore always inherit only the maternal
allele of any sex linked gene

 Disorder caused by recessive genes are

linked to the sex chromosome X
Haemophilia
Colour blindness

Haemophilia
A condition in which the blood cannot
clot normally
Due to lack of a protein needed for
blood clotting

 Individual's inability to produce the

protein is caused by recessive allele on
the X chromsome

 Normal dominant gene XH

Female have a pair of alleles of the
genes that controls the production of the
clotting factor

 Male have only one allele

Females may be homozygous dominant
or heterozygous dominant

 XHXH
XHXh

 Female with heterozygous dominant are

the carriers of the disease

 A normal male XHY

Homeophilic male XhY

A heterzygous female married with a recessive allele

for blood clotting (female carrier) marries a normal male
Phenotype
of parents :

Normal male

genotype
of parents :

XHY

gametes

XH

Genotype :
of offspring

XHXh

XH

XHXH

phenotype : normal
of offspring
female

Heterozygous female

XHXh

XHY

normal
female
carrier

normal
male

Xh

XhY

Haemophiliac
male

 A female who receive one dominant

allele and one recessive allele for blood
clotting is a carrier

 A female can only be a haemophiliac if

she has two recessive alleles on the X
chromosomes

 A male who carries dominant allele on

the X chromosome is normal

 A male who has recessive allele on the X

chromosomes suffers from haemophilia
because the Y chromosomes does not
have a homologous allele at the same
locus

Colour blindness

A person cannot distinguish certain

colours

Example : red green colour blindness

Inability to differentiate between red and
green colours

Caused by a recessive allele on the X

chromosome

Allele for normal colour vision

represented by B (dominant)

Allele for colour blindness b (recessive)

A female with normal colour vision may

have these genotype :

Homozygous dominant (BB)

Heterozygous dominant (Bb)

Genotype for a female who is colour

blindness

bb

XBXB - dominant homozygote

XbXb - recessive heterozygote

Colour blind

XBXb - heterozygote

Carrier

XBY normal

XbY colour blind

A man with normal vision marries a woman with normal

vision. The woman carries the colour bindness allele
phenotype :
of parents

normal male

genotype
of parents :

XBY

gametes :

XB

genotype
of offspring:

XBXB

XBXb

phenotype
of offspring:

normal
female

normal
female

heterozygous
female (carrier)

XBXb

X
Y

XB

XBY
normal
male

Xb

XbY
colour blind
male

In order for a female to be colour blind,

both her parents must carry the recessive
allele

More male are colour blind because

males inherit the X chromosome from
their mother

Male have no other allele to assert

dominance over the recessive allele

A colour blind man marries a homozygous normal vision

woman
phenotype
of parents :

genotype
of parents :

colour blind

XbY

Gametes :

Xb

genotype :
of offspring

XBXb

phenotype
of offspring

homozygous
normal female

XBXB

XB

XB

XBXb

XBY

XBY

female female
carrier carrier

normal normal
male
male

A man with normal vision marries a colour blind woman

phenotype :
of parents

normal vision
male

genotype
of parents :

XBY

gametes :

XB

genotype
of offspring:

XBXb

XBXb

phenotype
of offspring:

female
female

female
female

colour blind
female

XbXb

X
Y

Xb

XbY

Xb

XbY

colour blind colour bind

male
male

Other hereditary disease

A medical condition caused by an allele

inherited from the parents

It is passed down from one generation to

the next

Huntington's disease

Caused by mutation of an autosomal

dominant gene which is located on
chromosome number 4

Neurological disorder which leads to the

progressive degeneration of the nerve
cells

Loss of motor coordination, behavioural

changes , loss of mental power

Only appear between ages of 30 and 50

years

Sickle-cell Anaemia

Caused by defective allele for

haemoglobin synthesis

Autosomal gene which located on

chromosome number 11

When blood oxygen is low the red blood

cell have the shape of a sickle

This is due to the clumping of the

abnormal haemoglobin molecules in the
red blood cell

They more likely to break, aggregate and

clog the blood capillaries

Cystic fibrosis

Caused by a lack of transport protein

which allows chloride ions to move
across plasma membranes

Normally water will pass through the

plasma membranes after the chloride
ions passed

Affected persons frequent respiratory

infections

Caused by cystic fibrosis gene which

loacted on chromosome number 7

Thalassaemia

Number of different forms of anaemia

Caused by recessive gene which lead to

the synthesis of abnormal haemoglobin
in red blood cells

 Red blood cells cannot carry enough

oxygen. Deficiency of iron.

Passed down by parents who carry

thalassaemia gene in their cells

Symptoms :

Appear healthy at birth

After two years become pale, listless,

fussy, poor appetite

Grow slowly

Develop jaundice

Treatment :

Frequent blood transfusion

Bone marrow transplant

Gene and chromosomes

Chromosome thread like twisted

structure found in the nucleus

Gene the basic unit of inheritance

Has specific location on the chromosomes

Control the various traits or chracteristics of

organisms

Number of gene is depend on the size and

length of the chromosomes

The structure of DNA

When a chromosome is uncoiled it forms

a very long thread that is made up of one
DNA molecule and proteins s

The DNA is made up of units called

nucleotides

Each nucleotides contains :

Five carbon sugar

Phosphate sugar

A nitrogenous base

DNA molecules is made up of four

different types of nucleotides which have
varied nitrogenous base

Nitrogenous base :

Adenine (A)

Guanine (G)

Thymine (T)

Cytosine (C)

The deoxyribose of a nucleotide is linked

to the phosphate group of and a
nitrogenous base

The sequence of phosphate and sugar

on the chain does not change

The sequence of bases differs from one

DNA molecules to another

When the sequence of nitrogenous base

is changed different sequences of
nucleotides can obtained

DNA double helix

Nucleotides are joined in a specific

sequence to form a polynucleotide

A DNA molecules consist of two

polynucleotide chains that spiral and coil
around each other to form a double helix

Two polynucleotides or strands are held

together by hydrogen bonds between
pairs of bases

How trait of an organism is

manifested from the basic unit
of inheritance

DNA double helix consist of many

genes, each located on a particular
segment

The determinations of characteristics in

organisms is controlled by the DNA
through protein synthesis in the cells

Genes contain genetic code for the

synthesis of polypeptides which make up
part of an enzyme or protein

Genetic instructions is carried in the

sequence of nitrogenous bases along the
DNA molecules

It is coded by letters

A, T, C, G

The nucleotide sequence in a segment of

the DNA molecules determines the
sequence of amino acids in the protein or
enzymes to be synthesised

The flow of informations from a gene to a

polypeptide or protein is based on the
triplet codes

Different sequences of the three

nucleotide bases are codes for different
amino acids

Example :

AAT code for amino acid leucine

AGT code for amino acid serine

Protein function as the building blocks of

an organism and control the chemical
processes in an organisms

Importance of genetic research

Manipulate genes for benefit for mankind

Combined genes from different species of

organism

Identify specific genes that causes

diseases and replace the defective
genes

Forensic science identify suspect in

crimes

Genetic engineering bacteria produce

insulin

Agriculture improved plant and animal

product

Human genome project

International research programme to

map all the human genes

To detect, map and determined the

sequence of adenine, cytosine, guanine
and thymine in all human genes

Benefit

Identification of genes that cause disease

Diagnoes, treatments and possible

prevention of many ailment

DNA samples hair, saliva, blood,

semen

Other applications :

Screen genetic disorder

Track genes that is responsible for certain

disease

Test compatibility for potential organ donor

Advantages :

Everyone has a different DNA fingerprint

except identical twins

More useful than blood types forensic

because many people has the same blood
type

- More information on a criminal

identity

- very small quantities of DNA are required

for test

- DNA samples last much longer than

fingerprint

- DNA samples are much harder to clean

up at crime scene

Disadvantages :

Poor quality and poorly controlled testing

can lead to questionable result

The origin of the DNA samples may be

question in courtroom

- difficult to analyse accurately blood that is

mixed with wrong chemicals

Stem cell research

Stem cells are undifferentiated cells that

can undergo unlimited division to form
other cells

They can differentiate to form specialised

functioning body cells

Skin cells, red blood cells, nerve cells

Two types of stem cells :

1. embryonic stem cells

2. adult stem cells

Embryonic stem cells

- can be isolated from the embryos at the
blastocyst stage
- can be derived from embryos that are
created in vitro

Adult stem cells

-can divide but remain inactive until triggers
prompt them to differentiate - injury

Only certain tissues have stem cells

Brain tissues

Skeletal muscle

Liver tissue

Blood vessel

Differentiate to become certain types of

cells

Difficult to grow in a petri dish

Function of stem cells :

- treatment of injury or diseases

- develop ways to manipulate cells

Genetic engineering

The gene manipulation and alteration of

genetic materials (DNA / RNA) of an
organism to create new combinations of
genes

Involves the transfer of genes on the

DNA molecule from one living organism
onto the DNA molecule of another
organism

Genetic engineering involves :

- The transfer of genes produce a

transgenic organism
- deletion or multiplication of genes within
organism

- modification of existing genes or the

construction of new one and the
incorporation of the genes into a new
organism

Original DNA combined with foreign

genes rDNA

Application of genetic engineering

- produce viral proteins that can be used to
generate vaccine
- produce interferon human protein which
stop virus from multiplying

- produce growth hormone to treat

abnormalities

- produce antibodies
- produce blood clotting factor
- produce enzyme to treat heart attack

Gene therapy

The application of genetic engineering

techniques to alter or repace defective
genes in human

Involves the insertion of genetic materials

into a patient

Its restore the function of the protein

Can be used for treatment of :

Sickle cell anaemia

Cystic fibriosis

Cancer

Heart problem

Genetically modified organism (GMO)

Organisms whose genetic materials have

been altered

Benefits :

Produce large quantities of safer drugs and

vaccines for humans and animals

Example mass production of human

insulin from genetically enginered bacteria to
treat diabetis

Genetically modified food (GM food)

The result of modifying organisms

genetically
Transgenic plant one or more genes
are added to a plant genome

Benefits :

Improve surviving capability

Greater resistance to pests and disease

Improve nutritional values

Increase immunity to certain herbicides

Increase shelf life

Examples : wheat, soya, beans,

tomatoes, maize, eggs

Transgenic animal cloned DNA is

injected into fertilised eggs

The eggs are implanted in surrogate

mothers for development to take place

Benefits :

Sheep higher nutritional milk

Tilapia greater growth rate

Cow make the milk more suitable for

babies

Salmon grow faster

Controversies

Genetic modifications is seen as

interfering with nature

Genetic modification has not been

proven safe
Widespread of pest resistant plant may
result in other plants to be resistant to
the pest

Plant which are herbicides resistant may

cross pollinate and make other plants
become herbicides resistant
Unknown risk to human

Virus and bacteria with foreign genes

may become dangerous pathogens

The use of discarded embryo in stem

cells research is questionable because it
is like killing lives