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INHERITANCE

MENDELS EXPERIMENTS
Inheritance is the passing on of genetic instructions from generation to
generation
the science study of inheritance = Genetics
Begin :1850s discoveries by Gregor Mendel, an Ausrian monk, Biology and
Mathematics
Mendel was an outstanding student in Bio n Maths.
He carried out more than 10 000 experiments using the garden pea plant,
Pisum sativum to study inheritance.
Mendel choose pure breeding pea plant to carry out his investigations.

MENDELS RESULTS

MENDELS
RESULTS
From the results of his experiments , Mendel concluded that :
a)

GENES AND ALLELES


Today the hereditary factors described by Mendel is known as
genes.

Genes - basic units of inheritance which occupy specific positions


on chromosomes
Allele different forms of the same gene for a trait and occupy
the same relative position on a pair of homologous chromosomes,
represented by a letter
Allele also appears in pairs.

DOMINANT AND RECESSIVE


ALLELES
Dominant - A gene which shows its effect
in the homozygous and heterozygous
condition
Recessive : A gene which can only
express itself in the homozygous condition

PHENOTYPE AND GENOTYPE


Phenotype the traits of a character in an organism,
external appearance/ measurable features : colour,
size, structure
Genotype the genetic composition of an
organism and cannot be seen

HOMOZYGOTE AND
HETEROZYGOTE

Two same alleles Homozygote - TT . WW. QQ

Two different alleles Heterozygote tt. ww. qq

IMPORTANCE OF MEIOSIS 1 IN
THE SEGREGATION OF ALLELES

MENDELS FIRST LAW OF


INHERITANCE
1) Monohybrid Inheritance Inheritance involving a single characteristics
determine by one gene.
Involved monohybrid cross , 1 pair of alleles
Mendel formulated his first law of inheritance which is the Law of Segregation
that states:
The member of each pairs of alleles separate or segregate during the formation
of gametes.
Only one allele can be carried in a single gamete.

2) Dihybrid inheritance A cross which involves two pairs of alleles determining

two characteristics.

Dihybrid inheritance

Examples : stem length and seed colour


TTBB

P generation

Key :
T = tall, B = yellow
t = short, green

t b
TtBb

F1 generation

F2 generation

ttbb

T B

P gametes

F2 gametes

One parent
Other parent

TB
Tb
tB
tb

TB

Tb

tB

tb

Examples : stem length and seed colour


TTBB

P generation

T B

P gametes

F2 generation
Key :
T = tall, B = yellow
t = short, green

t b
TtBb

F1 generation

F2 gametes

ttbb

One parent
Other parent

TB
Tb
tB
tb

TB

Tb

tB

tb

TTBB

TTBb

TtBB

TtBb

TTBb

TTbb

TtBb

Ttbb

TtBB

TtBb

ttBB

ttBb

TtBb

Ttbb

ttBb

ttbb

Examples : stem length and seed colour


TtBb

P generation

F1 generation

F2 generation
Key :
T = tall, B = yellow
t = short, green

ttbb

t b

P gametes

F2 gametes

One parent
Other parent

Examples : stem length and seed colour


TtBb

P generation

P gametes

F1 generation

F2 gametes
F2 generation
Key :
T = tall, B = yellow
t = short, green

One parent
Other parent

TtBb

MENDELS SECOND LAW OF


INHERITANCE
After

carried out dihybrid cross, Mendel formulated his second law


which states :
Two or more pairs of alleles segregate independently of one another during the
formation of gametes.

It is called the Law of Independence Assortment.

INHERITANCE OF TRAITS IN
HUMAN
Mendels

law can be used to explain how organisms,


including humans, inherit their traits.

Human traits are influenced not only by single genes but


also by groups of genes and sex-linked genes

The ABO blood group system


Some traits in humans are controlled by more than two
alleles.
The ABO blood group system is an example of a trait that
is controlled by multiple alleles.
Multiple alleles means there are more than two possible
alleles of a particular gene that controls a specific character.

There

are 4 blood groups within the ABO system namely O,


A, B and AB.

These blood groups are determined by 3 alleles. They are


allele A, allele B & allele O.
Each individual only carries 2 of the 3 alleles.
The 3 alleles can be written as I I , I
A,

Allele I I are dominant to allele I


A,

o.

o.

Allele I and I are codominance which means


neither dominates the other.
There are 3 alleles, thus there are 6 possible
genotype combinations. Each individual inherits
one of these alleles from each parent.

Human blood groups and genotype


Blood group ( phenotype )
Blood group A
Blood group B
Blood group AB
Blood group O

Possible genotype

The antigens present on the surface of red blood


cells
Phenotype
(blood
group)

Antigens on Antibodies Can donate


red blood
present in
blood to
cells
blood serum blood
groups

Can receive
blood from
blood
groups

Anti-B

A, AB

A, O

Anti-A

B,AB

B, O

AB

A and B

None

AB

AB, A, B
and O

none

Anti-A and
Anti-B

A, B, AB
and O

The rhesus factor


The Rhesus factor is an antigen present on the surface of red blood cells
Results in agglutination when it reacts with the antibodies from
individuals without this antigen
Controlled by a pair of alleles : the Rh allele and the rh allele
The Rh allele is dominant over the rh allele
Rh positive , heterozygous (Rh-rh)
homozygous ( Rh-Rh)
Rh-negative , homozygous ( rh-rh )

Problem - During blood


transfusion
The first transfusion does not results in any reaction
In subsequent transfusion, the recipients blood in the
body of the recipients reacts by producing Rh
antibodies.
This results in agglunation with the donors blood and
this may lead to death.

Other problem about Rhesus factor


If Rh-negative mother has more than 1 Rh-positive baby.

1) Mother Rh-negative married father Rh-positive : result Rh-positive baby.

2) During pregnancy, Rh-positive red blood cells of foetus might enter the
mothers blood circulation.
3) This causes the mothers immune system to react by producing antibodies.

4) The antibodies enter foetuess blood circulatory system through the placenta
and destroy the foetal red blood cells.
5) Normally, the amount of antibodies formed is not sufficient to cause any
effect on the firstborn.

6) After delivery, the mother has Rhesus antibodies to fight Rh-positive blood
cells.

7) In a subsequent pregnancy, if the foetus is also Rh-positive, the antibodies


from the mother may enter the foetuss blood circulatory system and
agglutinate its red blood cells.
8) The 2nd baby will die if its blood is not replaced with Rh-negative blood in
blood transfusion. Erythroblastosis fetalis
9) If the situation is less critical, the baby may suffer from anaemia or brain
damage.

10) This problem can be prevented if the mother is given anti-Rh globulin after
the first pregnancy to stop the formation of the antibodies that will harm the 2nd
foetus.

AUTOSOMES AND SEX


CHROMOSOMES

AUTOSOMES AND SEX


CHROMOSOMES
Autosomes are differentiated by their size and length.
A pair of homologous chromosomes have the same size,
shape and band patterns of the DNA.
When homologous chromosomes are arranged from the
largest pair to the smallest pair and numbered according to
size, they form the karyotype of an individual.

Autosomes and sex chromosomes


Human somatic cells : 46 chromosomes
22 homologous pair which identical in size and shape, 1
pair different size : x chromosome is larger than y
chromosome. Y chromosome carries fewer genes.

44 autosomes and two sex chromosomes which can be


either X or Y
XY male

and XX female

Sex determination in offspring


Male
44 + XY
-Produces two types of
sperms
-One carries a Y
chromosome and other
one X chromosome

Female

44 + XX
- Produces ova with X
chromosomes

DIFFERENT HUMAN
KARYOTYPES

Sex-linked inheritance
Traits rarely appear in females.
Carried on the X chromosome
Example : haemophilia and colour blindness
Both disorders are caused by recessive genes that
are linked to the sex chromosome X

Haemophilia
A condition in which the blood does not clot normally, due to the
lack of a protein needed for normal blood clotting (excessive
bleeding)
Haemophiliacs individuals who suffer
Normal male married with a haemophiliacs

Normal 2 male and female, carrier female 1 and haemophiliac


male 1
Gene passed from the mother to the son

Colour Blindness
A condition in which colours cannot be
distinguished.
Unable to distinguish between red and green
colours
Caused by recessive allele carried on the X
chromosome

Other heredity diseases


Thalasemia childhood, affects the haemoglobin in
red blood cells, content less, smaller RBC
and Huntingtons disease caused by single gene
mutation which causes nerves to degenerate, brain
cells to die leading to behavioural changes and loss of
mental powers

Sickle-cell anaemia
Caused by defective allele for haemoglobin synthesis.
Abnormal haemoglobin molecules in RBC stick together.
Causing oxygen in blood is low and RBC become sickle shape.
It is more fragile, sticking together and block the blood capillaries.

Cystic fibrosis
Occur in autosomal recessive gene.
caused by lask of transport protein.

affects the function of lungs and pancreas.


Affected persons have frequent respiratory infections.

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