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).
The TP53 p.R337H founder mutation was reported to be associated with Brazilian families with LFL in 2007 (2), and has an estimated population frequency of 0.3% in Southern and Southeastern regions of Brazil, where the incidence of adrenocortical carcinoma is 10- to 15-fold greater than in other countries (30,31).
With our exponential model, we have a tool to ask how the growth of the population in general over the past 1200 years compares to a special subset of the population--descendants of our first "iron man" in whom the founder mutation occurred.
The founder mutation in CHH is a 70A>G point mutation that affects both rRNA and mRNA processing, whereas mutations resulting in AD affected ribosomal construction but not CLB2 mRNA levels [53,54].
[1] The National Cancer Institute Dictionary of Genetic Terms defines a founder mutation as 'a genetic alteration observed with high frequency in a group that is or was geographically or culturally isolated, in which one or more of the ancestors was a carrier of the altered gene'.
Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation. Clin Genet 2017;91:482-487.
If, however, such mutations are present, this could further support the notion of R882 mutation being a founder mutation, one which is acquired in early leukaemogenesis and leads to clonal expansion.
No formal guidelines currently exist to assist genetic counsellors or their counsellees in determining whether founder mutation analysis is sufficient or whether additional testing should be pursued following a negative result for the founder mutations identified in this population group.
This mutation has been described as a founder mutation on patients with Spanish ancestry, and its origin was tracked to the region of Castilla, Lion and Basque Country in Spain (5).
Gruber et al., "The founder mutation MSH2*1906G [right arrow] C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population," American Journal of Human Genetics, vol.