GENETICS (PART- 1) 




                                                       QUESTIONS


1. Which of the following is an autosomal recessive condition? 

 (a) Ataxia telangectasia 

(b) Peutz Jeghers syndrome 

(c) Neurofibromatosis 

(d) Tuberous sclerosis 

2. Which of the following is an autosomal dominant metabolic disorder? 

(a) Cystic fibrosis 

(b) Phenylketonuria 

(c) a-1 antitrypsin deficiency 

(d) Familial hypercholesterolemia 

3. The approximate number of genes contained in the human genome is ?

 (a) 40,000

 (b) 30,000 

(c) 80,000

 (d) 1,00,000 

4. True statements about α-l anti-trypsin deficiency is ?

 (a) Autosomal dominant disease 

 (b) Emphysema 

(c) Fibrosis of portal tract 

(d) Diastase resistant positive hepatocytes 

(e) Orcein positive granules 

5. Autosomal recessive diseases are 

 (a) Hereditary spherocytosis 

(b) Thalassemia 

(c) Sickle cell anemia 

(d) Cystic fibrosis 

(e) Hemophilia A

 6. Autosomal dominant disorders are all except ?

(a) Hereditary spherocytosis 

 (b) Thalassemia 

(c) Sickle cell anemia 

(d) Cystic fibrosis 

(e) Hemophilia

 7. Which of the following disorders has been shown to be genetically transmitted by single autosomal dominant genes? 

 (a) Catatonic schizophrenia 

(b) Phenylketonuria 

(c) Creutzfeldt-Jakob’s disease 

(d) Huntington’s disease

8. Duchenne dystrophy is a ?

 (a) Autosomal dominant disorder 

(b) X-linked dominant disease

 (c) Autosomal recessive disease 

(d) X-linked recessive disease

 9. Catastrophic variant of Ehler Danlos syndrome is ?

 (a) I 

(b) II 

(c) III

 (d) IV 

10. Sickle cell disease is due to ?

 (a) Point mutation

 (b) Frame shift mutation 

(c) Nucleotide receptor blockage 

(d) Non sequence mutation 

11. All are autosomal dominant disorders except ?

(a) Albinism 

 (b) Marfan’s syndrome 

(c) Familial adenomatous polyposis 

(d) Von-Hippel Lindau syndrome 

12. In Marfan’s syndrome there is defect in protein ?

(a) Collagen 

 (b) Elastin 

(c) Fibrillin 

(d) All

 13. Neurofibromatosis is ?

 (a) Autosomal dominant 

(b) AR 

(c) X-linked recessive 

(d) All

 14. Blue black pigmentation in alkaptonuria is due to ?

 (a) Homogentisic acid 

 (b) Oxalic acid 

(c) Glucouronic acid 

(d) All

15. A 26-year-old woman presents because of trouble with her vision. Physical examination reveals a very tall, thin woman with long, thin fingers. Examining her eyes reveals the lens of her left eye to be in the anterior chamber. Her blood levels of methionine and cystathionine are within normal levels. Which of the following is the most likely cause of this patient’s signs and symptoms?
(a) Abnormal copper metabolism

 (b) Decreased levels of vitamin D

 (c) Decreased lysyl hydroxylation of collagen 

(d) Defective synthesis of fibrillin 

(e) Defective synthesis of type I collagen


                                                   ANSWERS

1) a   2) d   3) b   4) b   5) b   6) b   7) d   8) d   9) d   10) a   11) a   12) c   13) a   14) a   15) d