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

J. Kim, J. Song, C. J. Lyu, Y. R. Kim, S. H. Oh, Y. C. Choi, J. H. Yoo, J. R. Choi, H. Kim, K. A. Lee

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)180-186
Number of pages7
JournalClinical Genetics
Issue number2
Publication statusPublished - 2012 Aug

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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