Multiple Choice Questions on Genetic Diseases

1. Tay-Sachs diseases is due to the deficiency of
a) hexosaminidase A
b) alpha galactosidase
c) hexosaminidase A and B
d) glucocerebrosidase

2. The first condition identified as an “inborn error of metabolism” was:
a) albinism
b) tyrosinemia
c) alcaptonuria
d) phenylketonuria

3. Lesch Nyhan syndrome is caused by:
a) deficiency of thiamine
b) deficiency of biotin
c) deficiency of HGPRTase activity
d) ) deficiency of APRTase activity

4. Zellweger syndrome is due to
a) inefficient peroxisomal beta oxidation
b)inefficient mitochondrial beta oxidation
c) inefficient glycoxysomal beta oxidation
d) none of these

5. The disease due to Nitrogen toxicity is
a) Addison’s dieasese
b) Caisson’s disease
c) Alzheimer’s dieases
d) Wilson’s disease

6. A sex linked recessive disorder in which the affected children mutilate themselves is
a) Cri du chat syndrome
b) Tay Sachs syndrome
c) Patau syndrome
d) Lesch Nyshan syndrome

7. Basic cause of senile dementia as well as Alzheimer's disease is :

a) accumulation of acetyl choline mimics
b) degeneration of cholinergic nerve terminals
c) degeneration of adrenergic nerve terminals
d) accumulation of adrenaline mimics



8. Xeroderma pigmentosum is a disease due to :

a) production of guanine guanine dimmers in the DNA
b) defective DNA repair
c) autoimmunity
d) defective melanin metabolism

9. Which of the following is an autoimunodisease
a) Haemophilia A
b) Type 1 Diabetes mellitus
c) Type 2 Diabetes mellitus
d) Sickle cell anaemia

10. Which of the following a Triplet Repeat Disorder
a) Huntington’s disease
b) Cystic fibrosis
c) Xeroderma pigmentosum
d) Spongiform Encephalopathy

Learn more:

• List of Human Genetic Disorders
• Multiple Choice Questions on Immune disorders
• Multiple Choice Questions on AIDS
• Multiple Choice Question on Deficiency Disease
• Multiple Choice Question on Syndrome

Answers:
1. a) hexosaminidase A
2. c) alcaptonuria
3. c) deficiency of HGPRTase activity
4. a) inefficient peroxisomal beta oxidation
5. b) Caisson’s disease
6. d) Lesch Nyshan syndrome
7. b) degeneration of cholinergic nerve terminals
8. b) defective DNA repair
9. b) Type 1 Diabetes mellitus
10. a) Huntington’s disease