frameshift mutation

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frameshift mutation

[¦frām‚shift myü′tā·shən]
(genetics)
The addition or deletion of nucleotides to anexon in numbers other than three, which shifts the translation reading frame so a new set of codons beyond the point of abnormality in the messenger ribonucleic acid is read. Also known as phase-shift mutation.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Three patients (P6, P8 and P16) harboured somatic mosaicisms: a nonsense mutation, a 7bp duplication and a 20bp deletion which result in a truncating frameshift mutation. One missense mutation was located in the DBD.
(4,8) The majority of the AML patients have 2 CEBPA mutations with both N-terminal frameshift mutation and C-terminal inframe mutation on different alleles.
In 3 families diagnosed with MFS, we identified independent heterozygous frameshift mutations of FBN1 (Figure 3(a)).
Patients with residual merosin and later presentation often carried missense, splice site mutation, and less frequently frameshift mutations [10].
Around 90% of these mutations are missense, involving one normal amino acid being exchanged for another, but some less common cases involve frameshift mutations, which lead to a profoundly different amino acid product [11].
Twenty-six of the detected mutations were missense, 5 were splice defects, 6 were nonsense, and 3 were frameshift mutations (Table 1).
Patients with DFNB12 usually carry CDH23 missense mutations in any domain, whereas individuals with USH1D usually have nonsense, splice-site, and frameshift mutations [5-7].
The major types of mutations responsible for this are nonsense mutations or frameshift mutations (7).
In our case, we found novel compound heterozygous frameshift mutations from his parents.
Given the high likelihood of frameshift mutations resulting in resistance and the high specificity (94%-98%) of pncA SNPs for pyrazinamide resistance (13,14), we estimate that at least 56%-66% of MDR TB and 90%-95% of XDR TB cases from these settings are likely to be resistant to pyrazinamide.
The most commons are the frameshift mutations at codons 41/42 (-TCTT) and the nonsense mutation at codon 17 (A [right arrow] T).
No hotspots for these mutations have been identified, but frameshift mutations and deletions have been reported on numerous occasions.