Question:

Pick out the correct statements : (a) Haemophilia is a sex-linked recessive disease. (b) Down's syndrome is due to aneuploidy. (c) Phenylketonuria is an autosomal recessive gene disorder. (d) Sickle cell anaemia is an X - linked recessive gene disorder.

Updated On: Apr 20, 2025
  • (b) and (d) are correct.
  • (a), (c) and (d) are correct.
  • (a), (b) and (c) are correct.
  • (a) and (d) are correct.
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The Correct Option is C

Solution and Explanation

Answer: Option 3 - (a), (b) and (c) are correct.

Explanation:

Let’s analyze each statement:

(a) Haemophilia is a sex-linked recessive disease:

Correct. Haemophilia is indeed a sex-linked recessive disease. It is carried on the X chromosome, and because males have only one X chromosome, they are more likely to be affected by this disorder if they inherit the X chromosome with the mutation.

(b) Down's syndrome is due to aneuploidy:

Correct. Down's syndrome (also known as Trisomy 21) is caused by aneuploidy, specifically an extra chromosome 21, resulting in a total of 47 chromosomes instead of the typical 46.

(c) Phenylketonuria is an autosomal recessive gene disorder:

Correct. Phenylketonuria (PKU) is an autosomal recessive gene disorder. It is caused by a mutation in the gene for the enzyme phenylalanine hydroxylase, leading to a build-up of phenylalanine in the body.

(d) Sickle cell anaemia is an X-linked recessive gene disorder:

Incorrect. Sickle cell anaemia is not X-linked but an autosomal recessive disorder. It is caused by mutations in the hemoglobin gene on chromosome 11, not on the X chromosome.

Conclusion:

The correct statements are (a), (b), and (c), making Option 3 the correct choice.

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Questions Asked in NEET exam

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Concepts Used:

Principles of Inheritance and Variation - Mutation

A Mutation is a change in the sequence of our DNA base pairs caused by numerous environmental stimuli such as UV light or mistakes during DNA replication. Germline mutations take place in the eggs and sperm and can be passed onto offspring, whereas somatic mutations take place in body cells and are not passed on.

Types of Mutations

There are three types of mutations, which are as follows:

Silent mutation

It refers to any change in DNA sequence that has no effect on the amino acid sequence in a protein or the functions that a protein performs. There is no phenotypic indication that a mutation has occurred.

Nonsense mutation

When there is a change in the sequence of base pairs due to a point mutation, that results in a stop codon. This leads to a protein that is either shortened or non-functional.

Missense mutation

A missense mutation occurs when a point mutation causes a change in the codon, which then codes for another amino acid.

The mutation is caused by the following factors:

Internal Causes

When DNA copies incorrectly, the majority of mutations occur. Evolution occurs as a result of all of these mutations. DNA makes a copy of itself during cell division. When a copy of DNA isn't flawless, it's called a mutation since it differs somewhat from the original DNA.

External Causes

When certain chemicals or radiations are used to break down DNA, it causes the DNA to break down. The thymine dimers are broken by UV radiation, resulting in altered DNA.