Understanding Frameshift Mutations: Causes, Effects, and Implications for Genetic Disorders

what mutations are considered frameshifts?

Frameshift mutations are genetic mutations that occur when nucleotides are inserted or deleted in a DNA sequence, resulting in a disruption of the reading frame during translation

Frameshift mutations are genetic mutations that occur when nucleotides are inserted or deleted in a DNA sequence, resulting in a disruption of the reading frame during translation. This alteration in the reading frame can cause a different set of amino acids to be formed, leading to a non-functional or truncated protein.

There are two types of frameshift mutations: insertion and deletion mutations.

1. Insertion Frameshift Mutation:
In an insertion frameshift mutation, one or more nucleotides are added to the DNA sequence. This shifts the reading frame of the codons, causing all subsequent codons to be read differently. For example, if a single nucleotide is inserted, every codon following the insertion will be different. This leads to a completely different amino acid sequence and often results in the production of a non-functional protein.

Example:
Normal DNA sequence:
ATG GCA TAC TGA GCG TCG AAC

Mutated DNA sequence (insertion of “C”):
ATG GCT ACT GAG CGT CGA AC

2. Deletion Frameshift Mutation:
In a deletion frameshift mutation, one or more nucleotides are removed from the DNA sequence, shifting the reading frame as well. This causes a different set of codons to be read, resulting in an altered amino acid sequence. Similar to insertion mutations, deletion mutations often lead to the production of non-functional proteins.

Example:
Normal DNA sequence:
ATG GCA TAC TGA GCG TCG AAC

Mutated DNA sequence (deletion of “A”):
ATG GCT ACT GAG CGT CGA AC

Frameshift mutations can have significant effects on gene function and protein structure, often resulting in the loss of protein function. These mutations are typically considered detrimental and can lead to genetic disorders or diseases.

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