Section: STEM · BiologyDifficulty: Medium

Genetic Mutation

USUK

A permanent change in the DNA sequence of an organism's genome.

Also: gene mutation

Definition

A genetic mutation is a permanent alteration in the nucleotide sequence of an organism's DNA. Mutations can be point mutations (single base changes), insertions, deletions, or chromosomal rearrangements. They may occur spontaneously during DNA replication or be induced by mutagens such as UV radiation or chemicals. Mutations can be neutral, harmful, or occasionally beneficial, and they are the ultimate source of genetic variation in populations.

Example

A single point mutation in the HBB gene changes one amino acid in hemoglobin, causing red blood cells to deform into a sickle shape under low-oxygen conditions, resulting in sickle cell disease.

Synonyms

  • gene mutation
  • DNA change
  • sequence alteration
  • genetic variation

Antonyms / Opposites

  • wild type
  • unmutated gene

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