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

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11 Citations (Scopus)

Abstract

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
Volume82
Issue number2
DOIs
Publication statusPublished - 2012 Aug 1

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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