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.
authors.affiliation: Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul 135-720, Korea.
authors.forename: J
authors.initials: J
authors.lastname: Kim
authors.forename: J
authors.initials: J
authors.lastname: Song
authors.forename: C J
authors.initials: CJ
authors.lastname: Lyu
authors.forename: Y R
authors.initials: YR
authors.lastname: Kim
authors.forename: S H
authors.initials: SH
authors.lastname: Oh
authors.forename: Y C
authors.initials: YC
authors.lastname: Choi
authors.forename: J H
authors.initials: JH
authors.lastname: Yoo
authors.forename: J R
authors.initials: JR
authors.lastname: Choi
authors.forename: H
authors.initials: H
authors.lastname: Kim
authors.forename: K-A
authors.initials: KA
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D056910:Republic of Korea; D055815:Young Adult
chemical_list: D005172:Factor XI