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 parents of patients FA189 and FA312 were tested for the common founder mutation (c.
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).
Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families.
The hemochromatosis founder mutation in HLA-H disrupts R-2-microglobulin interaction and cell surface expression.
3500] [right arrow] Trp mutation (one from the Scotland study and two from this study) are Asians; (c) all three Asians affected had the same (or a very similar) apo B haplotype, suggesting that they may all have descended from the same founder mutation.
Their inherited disorders testing panel, which includes analyses for carrier status for >50 conditions, contains a large caveat in that it includes only a small percentage of possible pathogenic mutations (usually founder mutations present only in specific populations, and in general not accounting for much of that disease risk).
Deltas said the team had registered several founder mutations, ie genetic errors responsible for specific inherited diseases in Cyprus.
Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.