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Question

Identify the correctly matched pair from the following?


Your Answer
A
Down's syndrome - Mutation in a single gene
Your Answer
B
Klinefelter syndrome - Absence of one X-chromosome
Your Answer
C
Sickle-cell anaemia - Presence of an additional X chromosome
Correct Answer
D
Albinism - Mutation in a single gene

Solution

The correct option is D Albinism - Mutation in a single gene
  • Albinism is a genetic disorder which arises due to the mutation in a single gene which is responsible for producing melanin.
  • Due to the absence of this pigment, skin is pale, hair is white, eyes are usually pink because of the absence of the pigment in retina and sclera.
  • Down syndrome is caused due to the presence of an additional copy of chromosome 21.
  • Klinefelter syndrome is caused due to the presence of an additional copy of X-chromosome in males. 
  • Sickle-cell anaemia is caused due to a mutation in the gene that codes for haemoglobin. This replaces valine with glutamic acid at the sixth position of the haemoglobin chain.

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