title: A single genetic origin for a common Caucasian risk factor for venous thrombosis.
abstract: A common genetic risk factor for venous thrombosis among Caucasoid subpopulations is a polymorphism, nt G1691A, in blood coagulation factor V that replaces Arg506 with Gln and imparts resistance of factor Va to the anticoagulant, activated protein C. Haplotype analyses using six dimorphic sites in the factor V gene for 117 Caucasian subjects of Jewish, Arab, Austrian, and French origin who were homozygous for nt A1691 compared with 167 controls (nt G1691) support a single origin for this polymorphism. The nt G1691A mutation is estimated to have arisen circa 21,000 to 34,000 years ago, ie, after the evolutionary divergence of Africans from non-Africans and of Caucasoid from Mongoloid subpopulations.
authors.affiliation: Department of Hematology, Sheba Medical Center, Tel-Aviv University, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Zivelin
authors.forename: J H
authors.initials: JH
authors.lastname: Griffin
authors.forename: X
authors.initials: X
authors.lastname: Xu
authors.forename: I
authors.initials: I
authors.lastname: Pabinger
authors.forename: M
authors.initials: M
authors.lastname: Samama
authors.forename: J
authors.initials: J
authors.lastname: Conard
authors.forename: B
authors.initials: B
authors.lastname: Brenner
authors.forename: A
authors.initials: A
authors.lastname: Eldor
authors.forename: U
authors.initials: U
authors.lastname: Seligsohn
mesh_terms: D001120:Arginine / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012307:Risk Factors; D013924:Thrombophlebitis / Q000235:genetics*; D044465:White People
chemical_list: D005165:Factor V; D001120:Arginine