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Coagulation Factor V Leiden R506QThis mutation (G1691A) occurs in about 8 % of Caucasians and encodes a structurally altered factor V protein (R506Q) which is cleaved less efficiently (about 10%) by activated protein C than the wild type protein. Consequently, the R506Q mutation causes a pro-thrombotic state. Clinically, it is associated with deep venous thromboembolism, recurrent miscarriages, portal vein thrombosis in cirrhotic patients, early kidney transplant loss and other forms of venous thromboembolism.References 1. Manucci PM. The molecular basis of inherited thrombophilia. Vox Sang 2000;78 Suppl 2:39-45 2. Foka ZJ et al. Factor V Leiden and prothrombin G20210A mutations, but not methylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages. Hum Reprod 2000 Feb;15(2):458-62 3. Amitrano L et al. Inherited coagulation disorders in cirrhotic patients with portal vein thrombosis. Hepatology 2000 Feb;31(2):345-8 4. Ekberg H et al. Factor V R506Q mutation (activated protein C resistance) is an additional risk factor for early renal graft loss associated with acute vascular rejection. Transplantation 2000 Apr 27;69(8):1577-81 |