Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect

作者：Kim J; Song J; Lyu C J; Kim Y R; Oh S H; Choi Y C; Yoo J H; Choi J R; Kim H; Lee K A^*

来源：Clinical Genetics, 2012, 82(2): 180-186.

DOI：10.1111/j.1399-0004.2011.01732.x

• F11
• factor XI deficiency
• Koreans
• mutation spectrum

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.

• 出版日期2012-8