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Question

The most striking example of point mutation is found in a disease is called as

A
Night blindness
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B
Thalassemia
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C
Down's syndrome
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D
Sickle-cell anaemia
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Solution

The correct option is C Sickle-cell anaemia

A point mutation, or single base modification, is a type of mutation that causes a single nucleotide base substitution, insertion, or deletion of the genetic material, DNA or RNA.

Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the hydrophilic amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position. The β-globin gene is found on the short arm of chromosome 11. Hence option D is correct.


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