Adolescent ; Adult ; Aged ; Amino Acid Sequence ; Asian Continental Ancestry Group/genetics* ; Base Sequence ; Child ; Factor XI/genetics* ; Factor XI Deficiency/genetics* ; Female ; Founder Effect* ; Haplotypes ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation* ; Phenotype ; Polymorphism, Genetic ; Republic of Korea ; Young Adult
Keywords
F11 ; factor XI deficiency ; Koreans ; mutation spectrum
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.