Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.
J Kim ; J Song ; K-A Lee ; H Kim ; JR Choi ; JH Yoo ; YC Choi ; SH Oh ; YR Kim ; CJ Lyu
Clinical Genetics, Vol.82(2) : 180~186, 2012
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.