Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V

• Published in: The Lancet (British edition) Vol. 343; no. 8912; pp. 1535 - 1536
• Main Authors: Voorberg, J., Roelse, J., Mertens, K., van Mourik, J.A., Koopman, R., Büller, H., Berends, F., ten Cate, J.W.
• Format: Journal Article
• Language: English
• Published: London Lancet 18.06.1994
• Subjects: Adult; Aged; Arginine - chemistry; Base Composition; Base Sequence; Biological and medical sciences; Blood and lymphatic vessels; Cardiology. Vascular system; Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous; DNA Primers - chemistry; Factor V - genetics; Female; Humans; Male; Medical sciences; Middle Aged; Molecular Sequence Data; Point Mutation; Protein C - genetics; Recurrence; Thromboembolism - genetics; Human; Factor V; Venous disease of the limb; Coagulation; Idiopathic; Deep vein thrombosis; Cardiovascular disease; Exploration; Mutation
• ISSN: 0140-6736
• DOI: 10.1016/S0140-6736(94)92939-4

Abnormal coagulation factor V may underlie the thrombotic events associated with resistance to activated protein C (APC). We analysed 27 consecutive patients with documented idiopathic (recurrent) thromboembolism for the occurrence of point mutations within the APC sensitive regions of blood coagulation factor V. In 10 patients we observed a single basepair mutation resulting in a substitution of Arg506 to Gln. This mutation was significantly linked to in-vitro resistance to APC in these subjects. This mutation at Arg506 of factor V may form the molecular basis for the thrombotic events associated with APC resistance.