4. Haemophilia
-Is a hereditary blood disorder.
-Blood fails to clot or clot very
slowly.
-Person carry recessive gene for
this trait.
-Recessive X- linked disorder.
-Has deficiency in clotting factor
(factor VIII and IX).
-Even minor injury cause
continuous bleeding.
-Hence called Bleeder’s disease.
5. Sex Normal Haemophilic Carrier
Male XHY XhY ------
Female XHXH XhXh XHXh
Genotype of different individuals for haemophilic gene can be
represented as follows
Gene for normal clotting is- XH
Gene for haemophilia is – Xh
Both genes are located on non- homologous region of X chromosome
9. Sex determination
In humans, there are two varieties of sex
chromosomes: a larger X chromosome and
a smaller Y chromosome
The SRY gene on the Y chromosome
codes for a protein that directs the
development of male anatomical features
Females are XX (Homomorphic), and
males are XY (Heteromorphic)
Each ovum contains an X chromosome,
while a sperm may contain either an X or a
Y chromosome
Other animals have different methods of
sex determination
10. Parents
or
Sperm
or
Egg
Male Female
44
XY
44
XX
22
X
22
Y
22
X
44
XX
44
XY
(a) The X-Y system
H
U
M
A
N
Mechanism of sex determination
Gamete formation in humans
Spermatogenesis Oogenesis
Human Male
Heterogametic–
Produce 2 types of
sperms
1st- 22 autosomes + X
2nd - 22 autosomes + Y
Human Female
Homogametic–
Produce only one
types of sperms
22 autosomes + X
11. Thus,
Father is responsible for sex of the child and not the mother
In honey bees
It is depend on number of sex chromosomes received by an individual.
Called as Haplo-diploid sex determination system.
Fertilized egg develops in to female (May be queen or worker )
have 2n= 32 number of chromosomes
Unfertilized egg develops in to male.
means by Parthenogenesis .
have n= 16 number of chromosomes
** Drones produce sperm by mitosis.
Figure 15.6
32
(Diploid)
16
(Haploid)
The haplo-diploid system
12. In birds
Sex determination is ZW-ZZ type.
In this males are homogametic have ZZ sex chromosomes.
Females are heterogametic with ZW pairs of sex chromosomes.
Figure 15.6
76
ZW
76
ZZ
(The Z-W system
13. Mendelian disorder
Thalassimia
It is a group of autosomal disorder.
Characterized by decreased synthesis of alpha and beta globin chain of HbA.
Heamoglobine- Conjugated protein made by A and B chain.
each chain consist alpha and beta globin subunits.
Two types of thalassimia
1. Alpha thalassimia- caused by deficient synthesis of alpha globin subunit
2. Beta thalassimia- caused by deficient synthesis of synthesis of beta globin
subunit
Alpha globin chain is coded by gene lies on 16th chromosome. And
Beta globin chain is coded by gene lies on 11th chromosome.
Clinically person is suffer from
Anemia- inability to synthesize Hb
Jaundice
Variation in size and shape of RBC etc
14. Massive blood transfusion is needed.
It is quantitative abnormality of polypeptide globin chain synthesis.