1.

Question : Select the autosomal dominant, autosomal recessive, X-sex linked recessive and Y-sex linked recessive disorders respectively.

Answer»

Myotonic dystrophy, SCA Haemophilia and hyper trichosis
Huntington's chorea, PKU (phenylketonuria), colour-blindness and webbed toes
Polydactyly, THALASSEMIA G-6-P dehydrogenase deficiency and long hais on pinna
All of the above

Solution :I. Autosomal dominant disorders
e.g: 1. Myotonic dystrophy
2. Huntington's chorea (chromosome 4)
3. PHENYLTHIOCARBAMIDE (PTC) testing
4. Polydactyly in MAN.
II. Autosomal recessive disorders
e.g: 1. SCA
2. PKU (Phenylketonuria)
3. Alkaptonuria
4. Albinism
5. Gaucher's disease (chromosome - I)
6. Tay Sach's disease
7. Thalassaemia
8. Cystic FIBROSIS (chromosome -7)
9.Galactosemia
III. Sex-linked (X) recessive disorders
e.g: 1. Haemophilia/Bleeder's disease
2. Colour-blindness
3. Congenital night blindness
4. DMD (Duchenne's MUSCULAR dystrophy)
5. G-6-P dehydrogenase deficiency
IV. Y Sex-linked disorder
e.g: Hypertrichosis (long hairs present on pinna of ear) and webbed toes.


Discussion

No Comment Found