ASSOCIATION OF IDIOPATHIC VENOUS THROMBOEMBOLISM WITH SINGLE POINT-MUTATION AT ARG(506) OF FACTOR-V

Abnormal coagulation factor V may underlie the thrombotic events assoc iated with resistance to activated protein C (APC). We analysed 27 con secutive patients with documented idiopathic (recurrent) thromboemboli sm for the occurrence of point mutations within the APC sensitive regi ons of blood coagulation factor V. In 10 patients we observed a single basepair mutation resulting in a substitution of Arg(506) to Gln. Thi s mutation was significantly linked to in-vitro resistance to APC in t hese subjects. This mutation at Arg(506) of factor V may form the mole cular basis for the thrombotic events associated with APC resistance.