Factor VArg(306)-> Thr (factor V Cambridge) and factor V Arg(306)-> Gly mutations in venous thrombotic disease

We investigated the prevalence of two reported mutations of the factor V ge ne (factor V Arg(306) --> Thr, or factor V Cambridge, and factor V Arg(306) --> Gly) in 104 relatively young patients with verified venous thrombosis and in 208 age-, sex- and race-matched controls, in order to establish whet her the two mutations are associated with increased predisposition for veno us thrombosis. PCR amplification followed by BstNI and MspI digestion was e mployed to determine the genotypes, and each mutation was confirmed by DNA sequencing. Among the controls, one individual was found to be heterozygous for the factor V Arg(306) --> Thr mutation and one heterozygous for the fa ctor V Arg(306) --> Gly mutation: none of the patients carried either mutat ion, Our findings do not support factor V Cambridge and factor V Arg(306) - -> Gly as risk factors for venous thrombosis.