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Principles of Inheritance and Variation question

2023 · Q29
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Principles of Inheritance and Variation question

2023 · Q29

NEETBiologyPrinciples of Inheritance and VariationMCQ+4 / −1

In which disorder change of single base pair in the gene for beta globin chain results in change of glutamic acid to valine ?

  1. A
    Thalassemia
  2. B
    Sickle cell anemia
  3. C
    Haemophilia
  4. D
    Phenylketonuria
View written solutionFree

Correct answer: B

The correct answer is Option B : Sickle cell anemia.

Sickle cell anemia is caused by a single nucleotide mutation in the beta-globin gene, which is a part of hemoglobin. This mutation causes the amino acid glutamic acid to be replaced by valine at the sixth position of the beta-globin chain. The resulting hemoglobin, called hemoglobin S, can deform red blood cells into a sickle shape, especially under low oxygen conditions. This change can cause various complications including pain, anemia, and increased risk of infection.

The other disorders listed - Thalassemia, Haemophilia, and Phenylketonuria - are also genetic disorders, but they are caused by different mutations.

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