Mutation

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MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

References in periodicals archive ?
The present study was carried out on four Pendred families defining p.Y556C mutation recurrent and to be included in mutation spectrum of Pakistani population as founder mutation.
While some founder mutations accounting for a significant proportion of disease alleles have been identified in specific ethnic groups, hundreds of extremely rare or private variants have also been identified [12-14].
Descriptive comparisons were also made with the previously published data on the physical phenotypic characteristics in black South African patients with FA caused by a homozygous FANCG founder mutation. [15]
As for BRCA2, the most frequent mutations besides the previously reported founder mutation 3034delACAA (8 patients), were C5972T (11 patients) and 6328C>T (3 patients), all of which could be considered founder mutations in Colombia (Tables 1 and 2).
that p.Ala306Thr could be a "founder mutation" was supported by the observation of linked haplotypes of STR markers segregating with hearing loss in two families [11].
Bertoni et al., "(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families," Neuromuscular Disorders, vol.
Haplotype analysis revealed that p.Ala306Thr is likely to be a founder mutation in the Korean population [8].
In 'Breast cancer in high-risk Afrikaner families: Is BRCA founder mutation testing sufficient?', [7] Seymour et al.
In Southern Brazil, a variant form of LFS, Li-Fraumeni-like syndrome (LFL), occurs as a result of a founder mutation in exon 10 of TP53, replacing an arginine with histidine at codon 337 (p.R337H), which falls within the oligomerization domain (7).
This finding called into question the proposed role of NPM-1 as a founder mutation, suggesting that DNMT3A mutations may precede NPM-1 mutations.
Elpeleg, "Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews," American Journal of Human Genetics, vol.
Certain leukodystrophies (megalencephalic leukodystrophy) have been shown to be common in the certain community and the founder mutation has also been identified previously.