Pathology MCQs for various entrance exams

Welcome to your Robbins Chapter 5 Mcqs- GENETICS

1. Which of the following is true regarding the inheritance of autosomal dominant disorders?

A. All affected individuals must have at least one parent with the disorder.

B. Autosomal dominant disorders show variable expressivity

C. Autosomal dominant disorders show complete penetrance

D. All of the following are true

2. Which of the following mutations are most commonly associated with autosomal dominant disorders?

A. Gain of function mutation

B. Loss of function mutation

C. Point mutation

D. None of the above

3. Which of the following statements is true regarding autosomal recessive disorders?

A. Variable penetrance similar to autosomal dominant disorders

B. Onset usually occurs in adulthood

C. Can occur as a result of consanguinity

D. One or both of the parents are usually affected.

4. Which of the following is matched correctly?

A. Huntington’s disease- Autosomal recessive

B. Familial hypercholesterolemia- X linked recessive

C. Marfan syndrome- X- linked dominant

D. Alkaptonuria- autosomal recessive

5. In a disease with mendelian pattern of inheritance, all the girls in a family and their father is affected wheras, mother and all the boys are unaffected. What is the pattern of inheritance?

A. X linked dominant

B. Autosomal dominant

C. Autosomal recessive

D. X linked recessive

6. A 14 year old boy visited the pediatrician with complaints of chest pain.The pediatrician observes that the boy has enlarged upper and lower limbs. He suspects marfan syndrome and on further examination finds ectopia lentis and aortic root dilatation. Which of the following statements is true regarding this condition?

A. It is associated with a defect in collagen

B. Associated with mutations in TGF beta type 2 mutations

C. Mutations in fibrillin -1 gene is present

D. Associated with mutations in fibrillin 2 gene.

7. Ghent criteria is used to diagnose which of the following conditions?

A. Marfan syndrome

B. Ehler danlos syndrome

C. Homocystinuria

D. Alkaptonuria

30. Which of the following subtypes of Ehlers danlos syndrome ( EDS) is autosomal recessive.?

A. Hypermobility type III

B. Kyphoscoliosis type VI

C. Arthrochlasia type VII

D. Classic type I and type II

9. All of the following mutations are associated with familial hypercholesterolemia except?

A. Mutations in HMG-CoA reductase

B. Mutations in LDLR gene

C. Mutations in gene encoding Apo B

D. Activating mutations in the PCSK9 gene

10. An infant presented with vomiting, diarrhea and failure to thrive. An ultrasound examination reveals, chalky calcification of the adrenal glands. Which of the following statements is false regarding this condition?

A. This disorder is autosomal recessive

B. It can be caused by the deficiency of lysosomal acid lipase

C. Glycogen is accumulated

D. All are true

Robbins Chapter 5- GENETICS MCQ

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