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By Jitesh A
Daunde
Normal Night blind
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.
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
1st Possibility
2nd Possibility
3rd Possibility
Haemophilia follows Criss-cross inheritance,
it transmit from father to his grandson through daughter
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
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
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
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
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
Massive blood transfusion is needed.
It is quantitative abnormality of polypeptide globin chain synthesis.
Chromosomal basis of inheritance

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Chromosomal basis of inheritance

  • 3.
  • 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
  • 8. 3rd Possibility Haemophilia follows Criss-cross inheritance, it transmit from father to his grandson through daughter
  • 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.