Disease associated with chromosome — UPSC CMS MCQs (Medical Genetics)

Question 1

Pyruvate kinase deficiency results in deficiency of ATP production and a chronic hemolytic anemia. The disorder is inherited as an:

Accepted Answer

A. Autosomal recessive trait

Answer

X-linked recessive trait

Answer

Autosomal dominant trait

Answer

X-linked dominant trait

Question 2

Cystic fibrosis disorder is:

Accepted Answer

B. Autosomal recessive

Answer

Autosomal dominant

Answer

X-linked dominant

Answer

X-linked recessive

Question 3

Which of the following statements regarding G6PD enzyme deficiency are correct?
1. It is an X-linked deficiency.
2. Geographical distribution parallels the malaria belt.
3. Consumption of fava beans is protective.
4. Transfusion support may be life-saving.
Select the correct answer using the code:

Accepted Answer

B. 1, 2 and 4

Answer

1 and 3 only

Answer

1 and 4 only

Answer

2, 3 and 4

Question 4

In familial adenomatous polyposis, which of the following all are true?
1. Presence of >100 colorectal polyps
2. Positive family history
3. Autosomal Recessive inheritance
4. Genetic mutation on Chromosome 5
Select the correct answer using the code:

Accepted Answer

B. 1, 2 and 4

Answer

1, 2 and 3

Answer

1, 3 and 4

Answer

2, 3 and 4

Question 5

Which of the following are correct with regard to alpha-1-antitrypsin deficiency?
1. Prolonged jaundice in the neonatal period
2. Pulmonary emphysema in adulthood
3. Panniculitis is seen rarely
4. Autosomal dominant disorder
Select the correct answer using the code:

Accepted Answer

A. 1, 2 and 3

Answer

1, 2 and 4

Answer

1, 3 and 4

Answer

2, 3 and 4

Question 6

Which of the following statements are correct regarding Familial Adenomatous Polyposis?
1. It is associated with mutation of the APC gene located on the short arm of chromosome 5.
2. It is inherited as an autosomal recessive condition.
3. It is associated with a 100% lifetime risk for development of Colorectal Carcinoma.
4. Congenital hypertrophy of the retinal pigment epithelium is present in half of the cases.
Select the correct answer using the code:

Accepted Answer

C. 1, 3 and 4

Answer

1, 2 and 3

Answer

1, 2 and 4

Answer

2, 3 and 4

Question 7

Crigler-Najjar syndrome Type-I is inherited as an:

Accepted Answer

A. Autosomal recessive

Answer

Autosomal dominant

Answer

X-linked recessive

Answer

X-linked dominant

Question 8

Which of the following are correct regarding Li-Fraumeni syndrome?
1. It has autosomal dominant inheritance and is associated with P53 gene.
2. It has autosomal recessive inheritance and is associated with P53 gene.
3. It is associated with an increased risk of sarcomas and leukemia.
4. It is associated with an increased risk of brain tumors and osteo-sarcomas.
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Accepted Answer

B. 1, 3 and 4

Answer

2, 3 and 4

Answer

1 and 4 only

Answer

1 and 3 only

Question 9

Which one of the following correctly denotes the inheritance pattern of cystic fibrosis?

Accepted Answer

B. Autosomal Recessive

Answer

Autosomal Dominant

Answer

X-linked Dominant

Answer

X-linked Recessive

Question 10

Which one of the following hereditary tubulo-interstitial kidney diseases has an autosomal recessive mode of inheritance?

Accepted Answer

C. Nephronophthisis

Answer

Medullary cystic kidney disease type 1

Answer

Medullary cystic kidney disease type 2

Answer

Juvenile hyperuricaemic nephropathy

Question 11

Wilson’s disease has which of the following inheritance:

Accepted Answer

C. Autosomal recessive

Answer

X-linked recessive

Answer

Autosomal dominant

Answer

It is an acquired disease

Question 12

Which of the following conditions are transmitted as a recessive, sex-linked trait?
I. Retinitis pigmentosa
II. Colour blindness
III. Cystic fibrosis
IV. Duchenne muscular dystrophy
Select the correct answer using the code:

Accepted Answer

B. I, II and IV

Answer

I, II and III

Answer

II, III and IV

Answer

I, III and IV

Q1. Pyruvate kinase deficiency results in deficiency of ATP production and a chronic hemolytic anemia. The disorder is inherited as an:

Q2. Cystic fibrosis disorder is:

Q4. In familial adenomatous polyposis, which of the following all are true? 1. Presence of >100 colorectal polyps 2. Positive family history 3. Autosomal Recessive inheritance 4. Genetic mutation on Chromosome 5 Select the correct answer using the code:

Q5. Which of the following are correct with regard to alpha-1-antitrypsin deficiency? 1. Prolonged jaundice in the neonatal period 2. Pulmonary emphysema in adulthood 3. Panniculitis is seen rarely 4. Autosomal dominant disorder Select the correct answer using the code:

Q7. Crigler-Najjar syndrome Type-I is inherited as an:

Q9. Which one of the following correctly denotes the inheritance pattern of cystic fibrosis?

Q10. Which one of the following hereditary tubulo-interstitial kidney diseases has an autosomal recessive mode of inheritance?

Q11. Wilson’s disease has which of the following inheritance:

Q12. Which of the following conditions are transmitted as a recessive, sex-linked trait? I. Retinitis pigmentosa II. Colour blindness III. Cystic fibrosis IV. Duchenne muscular dystrophy Select the correct answer using the code: