Evidence for a single origin of factor V Leiden.
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.
Cox
M J
MJ
MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford.
Rees
D C
DC
Martinson
J J
JJ
Clegg
J B
JB
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
D005165:Factor V