founder mutation


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founder mutation

An altered gene that proliferates in a kinship or community from a single identifiable ancestor.
See also: mutation
References in periodicals archive ?
The Afrikaner FA physical phenotype was compared with that previously detailed in black SA FA patients who are homozygous for a FANCG 7 bp deletion founder mutation (N=35) (Table 2).
In 2007, six deleterious founder mutations were reported, 50% of them where present in families with multiple cases of breast cancer and 33% in families who had breast cancer and/or ovarian cancer, for a total of 53 families included in the study (8).
8%) underwent BRCA Afrikaner founder mutation testing, and 14/54 (25.
Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.
at high risk who have been tested for the founder mutation and haplotype unique to the MSH2 region, 61 have been identified as carriers of the mutation (JAMA 291[6]:718-24, 2004).
To undertake molecular testing to identify the second FA-causing mutation in patients who were heterozygous for the founder mutation in the FANCG gene, as well as to determine whether or not other FANCG founder mutations exist in this population.
Two variants in CDKN2A were also chosen: the codnn 113 arginine insertion founder mutation (ins113R), which is the most common CDKN2A alteration in Swedish melanoma families (12,13), and the A148T amino acid change, because it has been proposed to be associated with increased risk of development of malignant melanoma (14-16).
The 2588G [right arrow] C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
BRCA1 mutations in South African breast and/ or ovarian cancer families: Evidence of a novel founder mutation in Afrikaner families.
Because R114H has been found only in Asian patients, it would seem that R114H is a founder mutation contributing to HSCR in Asia.
Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia.