MCQs on Mendelian Disorders in Humans

The genetic disorders caused by a single genetic locus are referred to as Mendelian disorders. It is a type of genetic disorder in humans primarily caused either due to abnormalities in the genome or changes in a single genome. The condition is found to be present since birth. These disorders may or may not be inherited.

1. Which of the following is a type of autosomal recessive genetic disorder?

(a) Haemophilia

(b) Skeletal dysplasia

(c) Sickle cell anaemia

(d) None of the above

Answer: (c)

2. Which of the following disorder is also called the Royal disease?

(a) Colour blindness

(b) Haemophilia

(c) Sickle cell anaemia

(d) Alzheimer’s disease

Answer: (b)

3. Which of the following disorder is an example of point mutation?

(a) Sickle cell anaemia

(b) Down’s syndrome

(c) Night blindness

(d) Thalassemia

Answer: (a)

4. If the father in a family has a disease while the mother is normal, the daughters only are inherited by this disease and not the sons. Name this type of disease?

(a) Autosomal recessive

(b) Autosomal dominant

(c) Sex-linked recessive

(d) Sex-linked dominant

Answer: (d)

5. Which of the following genotypes and phenotypes in a man may be the correct result of aneuploidy in sex chromosomes?

(a) 22 pairs + Y females

(b) 22 pairs + XY females

(c) 22 pairs + XXY females

(d) 22 pairs + XXXY females

Answer: (c)

6. What will be the condition of the progeny if the father is normal, while the mother has one gene for haemophilia and one gene for colour blindness on one of the X chromosomes?

(a) Only daughters are haemophilic and colour blind

(b) Both sons and daughters will be haemophilic and colour blind

(c) 50 per cent haemophilic and colour blind sons and 50% normal sons

(d) 50 per cent haemophilic colour blind daughters and 50% colour blind daughters

Answer: (c)

7. Cystic fibrosis is an autosomal recessive genetic disorder. What are the chances that the child would have the disease if any one of the parent (either mother or father)is a carrier of the faulty cystic fibrosis gene (Cc)?

(a) 100 per cent

(b) 50 per cent

(c) 25 per cent

(d) 0 per cent

Answer: (d)

8. Alpha 1 anti-trypsin deficiency is an autosomal recessive genetic disorder. What are the chances that any of the offspring do not express the disease phenotype if both parents are genotype (Aa)?

(a) 100 per cent

(b) 75 per cent

(c) 50 per cent

(d) 25 per cent

Answer: (b)

9. Which of the following is a trait of X-linked recessive?

(a) Albinism

(b) Haemophilia

(c) Huntington’s disease

(d) None of these

Answer: (b)

10. The mode of inheritance for the trait – Fragile X syndrome is________.

(a) X linked dominant

(b) X linked recessive

(c) Autosomal dominant

(d) Autosomal recessive

Answer: (a)

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