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Question

In which gene does point mutation occur in sickle cell anemia?


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Solution

Sickle cell anemia:

  1. It is an autosomal blood disorder that is caused by codominant alleles.
  2. The normal allele of hemoglobin is HbA.
  3. Persons suffering from sickle cell anemia have the gene HbS.
  4. Persons having HbA/HbA genotype have normal hemoglobin while people having HbS/HbS suffer from sickle cell hemoglobin.
  5. The gene HbS is located on the 11th chromosome and produces abnormal hemoglobin.
  6. It is different from normal hemoglobin in its oxygen-carrying capacity.
  7. The low concentration of hemoglobin makes the hemoglobin carrying the mutant gene narrow and sickle-shaped.
  8. The RBCs clump together causing vascular obstruction and severe anemia which damages the vital organs like the spleen, liver, and brain.
  9. Normal hemoglobin differs from abnormal hemoglobin in only one amino acid at the βchain.
  10. The 6th amino acid in the βchain of hemoglobin is glutamic acid which is replaced by valine in abnormal hemoglobin.

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