Gene Mutation

Gene mutation is a permanent change in the nucleotide sequence of DNA that alters the genetic code.

• Types:

  1. Point mutation: single base change (e.g., Sickle cell anemia – GAG → GTG in β-globin gene; Glu → Val).

  2. Insertion/Deletion: addition or removal of bases (e.g., Cystic fibrosis – deletion of 3 bases for phenylalanine at position 508).

Example Data:

• Sickle cell anemia: Codon change GAG → GTG at position 6 of β-globin → Hemoglobin S formation.