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

doi:10.1111/j.1399-0004.2011.01732.x

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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12 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 language	English
Pages (from-to)	180-186
Number of pages	7
Journal	Clinical Genetics
Volume	82
Issue number	2
DOIs	https://doi.org/10.1111/j.1399-0004.2011.01732.x
Publication status	Published - 2012 Aug

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1111/j.1399-0004.2011.01732.x

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

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.",

author = "J. Kim and J. Song and Lyu, {C. J.} and Kim, {Y. R.} and Oh, {S. H.} and Choi, {Y. C.} and Yoo, {J. H.} and Choi, {J. R.} and H. Kim and Lee, {K. A.}",

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AU - Kim, J.

AU - Song, J.

AU - Lyu, C. J.

AU - Kim, Y. R.

AU - Oh, S. H.

AU - Choi, Y. C.

AU - Yoo, J. H.

AU - Choi, J. R.

AU - Kim, H.

AU - Lee, K. A.

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AB - 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.

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

Abstract

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