title: Evidence for a single origin of factor V Leiden.
abstract: Factor V Leiden is the most common hereditary blood clotting disorder so far identified, with an allele frequency of 4%. The low prevalence of the mutation outside of Europe suggests it occurred as a single event in the European founding population. In this study four polymorphisms have been identified defining different haplotypes in the exon 13 region of the factor V gene. One of these polymorphisms predicts a novel amino acid change, threonine to serine, in the B-domain of factor V. Statistical evidence for a single origin of factor V Leiden is provided through the association of the mutation with a single exon 13 haplotype.
authors.affiliation: MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford.
authors.forename: M J
authors.initials: MJ
authors.lastname: Cox
authors.forename: D C
authors.initials: DC
authors.lastname: Rees
authors.forename: J J
authors.initials: JJ
authors.lastname: Martinson
authors.forename: J B
authors.initials: JB
authors.lastname: Clegg
mesh_terms: D001483:Base Sequence; D001778:Blood Coagulation Disorders / Q000235:genetics*; D005091:Exons; D005165:Factor V / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D017421:Sequence Analysis
chemical_list: D005165:Factor V