frame-shift mutation


Also found in: Dictionary, Encyclopedia.
Related to frame-shift mutation: point mutation, missense mutation

frame-shift mutation

A genetic mutation caused by the addition or deletion of a number of NUCLEOTIDES other than three. Because the genetic code consists of codons (groups of three nucleotides), such a change shifts the reading frame for translation so all adjacent codons are changed and a completely new set is read into the messenger ribonucleic acid (mRNA).
References in periodicals archive ?
In this article, we describe the clinical phenotype and follow-up of a patient with HSH due to a novel frame-shift mutation in the TRMP6 gene.
By sequencing the polymerase chain reaction fragments of the entire coding region and the exon-intron boundaries of TSC1 and TSC2, we detected a novel frame-shift mutation (c.
DNA sequencing results showed that both patients carried a novel p.E67fs (p.E67Kfs*9, c.199delG) frame-shift mutation in exon 1 and a previously reported p.R448H (c.1343G>A) missense mutation in exon 8 (Figures 1 and 3).
Such contingency loci are directly involved in interaction with host components and are frequently subjected to polymerase slippage to generate phenotypic variation for survival in adverse environmental conditions.6 These SSRs are reported to be associated with pathogenic bacteria adaptation and virulence such as Bordetella pertussis, Campylobacter jejuni, Helicobacterpylori, Haemophilus influenzae and Neisseria meningitides.2,7,8 SSRs present within the coding region of a gene known as Intragenic SSRs can cause frame-shift mutation within coding sequences and thus can affect its translation and lead to premature termination of translation or altered protein C terminal.
We concluded that this frame-shift mutation may also be associated with BRRS.
In our study, the mutation type was insertion/duplication in which one base pair duplication leads to alteration of aspartic acid to glutamic acid in codon 112 and subsequently frame-shift mutation occurs which introduces a Premature Termination Codon (PTC).
The severe clinical picture was most probably due to the frame-shift mutation of the second allele of that patient (5).
Epigenetic loss of the DNA repair gene, MLH1, results in widespread frame-shift mutations in DNA repeat tracts termed microsatellite instability (MSI) (Figure 2).