Factor V Arg306 → Thr (factor V Cambridge) and factor V Arg306 → Gly mutations in venous thrombotic disease

We investigated the prevalence of two reported mutations of the factor V gene (factor V Arg³⁰⁶ → Thr, or factor V Cambridge, and factor V Arg³⁰⁶ → Gly) in 104 relatively young patients with verified venous thrombosis and in 208 age-, sex- and race-matched controls, in order to establish whether the two mutations are associated with increased predisposition for venous thrombosis. PCR amplification followed by Bst NI and Msp I digestion was employed 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 Arg³⁰⁶ → Thr mutation and one heterozygous for the factor V Arg³⁰⁶ → Gly mutation; none of the patients carried either mutation. Our findings do not support factor V Cambridge and factor V Arg³⁰⁶ → Gly as risk factors for venous thrombosis.