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Population‐specific spectrum of the F11 mutations in Koreans: evidence for a founder effect
Author(s) -
Kim J,
Song J,
Lyu CJ,
Kim YR,
Oh SH,
Choi YC,
Yoo JH,
Choi JR,
Kim H,
Lee KA
Publication year - 2012
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2011.01732.x
Subject(s) - founder effect , genetics , population , mutation , biology , medicine , haplotype , gene , genotype , environmental health
Kim J, Song J, Lyu CJ, Kim YR, Oh SH, Choi YC, Yoo JH, Choi JR, Kim H, Lee K‐A. Population‐specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. The aim of this study was to investigate a mutation spectrum of F11 among Korean patients with factor XI (FXI) deficiency and to determine the haplotypes of mutations frequently found in Koreans. Thirteen unrelated patients from non‐consanguineous families with FXI deficiency were included in the study. In the mutation analysis, the most frequently found mutations were Q263X (four cases; 31%) and Q226X (three cases; 23%). The frequency of Q263X‐bearing haplotype was significantly different between normal and patient groups (p = 0.001), which is consistent with a founder effect of Q263X mutation. Testing for the presence of these two mutations should be the first genetic screening in Korean patients with FXI deficiency.