Deletion mutation

Deletion Mutation

A deletion mutation (pronounced: dɪˈliːʃən mjuːˈteɪʃən) is a type of mutation that involves the loss or removal of one or more nucleotides from a gene sequence. This can lead to a shift in the reading frame of the gene, potentially resulting in a completely different protein being produced, or no protein at all.

Etymology

The term "deletion mutation" comes from the English words "deletion" (from Latin deletio, meaning "a blotting out, erasing") and "mutation" (from Latin mutatio, meaning "a changing, alteration").

Types of Deletion Mutations

There are two main types of deletion mutations:

Frame-shift mutations: These occur when the deletion of nucleotides causes a shift in the reading frame of the gene. This can result in a completely different protein being produced, or no protein at all.

In-frame deletions: These occur when the deletion of nucleotides does not cause a shift in the reading frame. This can result in a protein with missing amino acids, but the rest of the protein may still function normally.

Effects of Deletion Mutations

The effects of deletion mutations can vary greatly depending on the size of the deletion and its location within the gene. Small deletions may have little to no effect, while larger deletions can have severe effects, such as causing genetic disorders like Cystic fibrosis or Duchenne muscular dystrophy.