Medical Genetics — All UPSC CMS MCQs

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.
Select the correct answer using the code:

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

Question 13

Which of the following are the diseases associated with DNA repeat sequences?
1. Huntington’s disease
2. Myotonic dystrophy
3. Friedreich’s ataxia
4. Klinefelter syndrome
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 14

Which of the following are examples of genomic imprinting?
1. Angelman syndrome
2. Williams syndrome
3. Prader-Willi syndrome
4. DiGeorge syndrome
Select the correct answer using the code:

Accepted Answer

A. 1 and 3

Answer

1 and 2

Answer

2 and 3

Answer

2 and 4

Question 15

Which of the following syndromes are caused due to genomic imprinting?
I. Rubinstein Taybi syndrome
II. Prader-Willi syndrome
III. Angelman syndrome
IV. Edward syndrome
Select the correct answer using the code:

Accepted Answer

B. II and III

Answer

I and III

Answer

II and IV

Answer

I and IV

Question 16

Cardiac outflow tract defect, thymic hypoplasia, cleft palate and hypocalcemia are clinical features of which gene disorder?

Accepted Answer

D. DiGeorge syndrome

Answer

Angelman syndrome

Answer

Williams syndrome

Answer

Smith-Magenis syndrome

Question 17

Which of the following are the clinical features of Neurofibromatosis-1?
1. Angiomas
2. Axillary freckles
3. Cutaneous schwannomas
4. Neurofibromas
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 18

Which of the following chromosomal abnormalities are associated with brain tumours?
1. Neurofibromatosis type 1
2. Neurofibromatosis type 2
3. Peutz-Jeghers syndrome
4. Hereditary nonpolyposis colorectal cancer
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 19

The most common type of brain tumours associated with neurofibromatosis type 1 brain tumour syndrome is:

Accepted Answer

A. astrocytoma

Answer

acoustic neuroma

Answer

meningioma

Answer

medulloblastoma

Question 20

The most common type of brain tumours associated with neurofibromatosis type 1 brain tumour syndrome is

Accepted Answer

A. astrocytoma

Answer

acoustic neuroma

Answer

meningioma

Answer

medulloblastoma

Question 21

Consider the following pairs of genetic diseases that show Mendelian inheritance. Each of the following pairs represents a genetic disease and it has been matched with a type of inheritance:
| Genetic disease | Type of inheritance |
| --- | --- |
| 1. Cystic fibrosis | Autosomal recessive |
| 2. Huntington's chorea | Autosomal dominant |
| 3. Marfan's syndrome | Recessive sex-linked |
How many of the pairs given above are correctly matched?

Accepted Answer

C. Only two of the pairs

Answer

None of the pairs

Answer

Only one of the pairs

Answer

All the three pairs

Question 22

Which one of the following correctly describes the mode of inheritance of haemophilia B?

Accepted Answer

D. X-linked recessive

Answer

Autosomal dominant

Answer

Autosomal recessive

Answer

X-linked dominant

Question 23

Consider the following pairs of genetic diseases that show Mendelian inheritance. Each pair represents a genetic disease matched with a type of inheritance:
1. Cystic fibrosis — Autosomal recessive
2. Huntington’s chorea — Autosomal dominant
3. Marfan’s syndrome — Recessive sex-linked
How many of the pairs given above are correctly matched?

Accepted Answer

C. Only two of the pairs.

Answer

None of the pairs.

Answer

Only one of the pairs.

Answer

All the three pairs.

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:

Q13. Which of the following are the diseases associated with DNA repeat sequences? 1. Huntington’s disease 2. Myotonic dystrophy 3. Friedreich’s ataxia 4. Klinefelter syndrome Select the correct answer using the code:

Q14. Which of the following are examples of genomic imprinting? 1. Angelman syndrome 2. Williams syndrome 3. Prader-Willi syndrome 4. DiGeorge syndrome Select the correct answer using the code:

Q15. Which of the following syndromes are caused due to genomic imprinting? I. Rubinstein Taybi syndrome II. Prader-Willi syndrome III. Angelman syndrome IV. Edward syndrome Select the correct answer using the code:

Q16. Cardiac outflow tract defect, thymic hypoplasia, cleft palate and hypocalcemia are clinical features of which gene disorder?

Q17. Which of the following are the clinical features of Neurofibromatosis-1? 1. Angiomas 2. Axillary freckles 3. Cutaneous schwannomas 4. Neurofibromas Select the correct answer using the code:

Q18. Which of the following chromosomal abnormalities are associated with brain tumours? 1. Neurofibromatosis type 1 2. Neurofibromatosis type 2 3. Peutz-Jeghers syndrome 4. Hereditary nonpolyposis colorectal cancer Select the correct answer using the code:

Q19. The most common type of brain tumours associated with neurofibromatosis type 1 brain tumour syndrome is:

Q20. The most common type of brain tumours associated with neurofibromatosis type 1 brain tumour syndrome is

Q22. Which one of the following correctly describes the mode of inheritance of haemophilia B?