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Coagulation Factor II (Prothrombin) G20210AThis mutation is located in the 3' UTR of the Coagulation Factor II propeptide gene near a putative polyadenylation site and occurs in about 2 % of Caucasians. Biochemically, it is associated with raised levels of circulating levels of prothrombin. Clinically, it is associated with deep venous thromboembolism, recurrent miscarriages and portal vein thrombosis in cirrhotic patients.References 1. Manucci PM. The molecular basis of inherited thrombophilia. Vox Sang 2000;78 Suppl 2:39-45 <NCBI> 2. Soria JM et al. Linkage analysis demonstrates that the prothrombin G20210A mutation jointly influences plasma prothrombin levels and risk of thrombosis. Blood 2000 May 1;95(9):2780-5 <Abstract/Full Text /NCBI> 3. 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 <Abstract/ Full Text /NCBI> 4. Amitrano L et al. Inherited coagulation disorders in cirrhotic patients with portal vein thrombosis. Hepatology 2000 Feb;31(2):345-8 <Full Text /NCBI> |