title: Activated protein C resistance caused by a common factor V mutation has a single origin.
abstract: A point mutation (FV:R506Q) in the human coagulation factor V gene is associated with resistance to activated protein C and life-long increased risk of venous thrombosis. The mutation is common in populations of Caucasian origin but virtually absent among other populations. In this study of 140 healthy Swedish volunteers and 110 homozygotes for the FV:R506Q mutation, we determined the allele frequencies of the FV:R506Q mutation and four other dimorphisms, C/T at nucleotide positions 2298 and 2325, and A/G at nucleotide positions 2379 and 2391. Manifest linkage disequilibrium was found between the FV:R506Q mutation and the four different dimorphisms. The finding of a single FV:R506Q haplotype in all homozygotes constitutes strong evidence of a common ancestor of Swedish individuals with the FV:R506Q mutation.
authors.affiliation: Department of Clinical Chemistry, Lund University, University Hospital, Malmö, Sweden.
authors.forename: B
authors.initials: B
authors.lastname: Zöller
authors.forename: A
authors.initials: A
authors.lastname: Hillarp
authors.forename: B
authors.initials: B
authors.lastname: Dahlbäck
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D005091:Exons; D005165:Factor V / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D011486:Protein C / Q000235:genetics / Q000378:metabolism*; D015183:Restriction Mapping; D013548:Sweden
chemical_list: D011486:Protein C; D005165:Factor V