Prothrombin gene, mutations

Protein C, protein S, antithrombin III, activated protein C resistance, lipoprotein(a) anticardiolipin antibodies, lupus anticoagulant, prothrombin gene mutation 20210a... 

Martinelli I, Sacchi E, Landi G, Taio-li E, Duca F, Mannucci PM. High risk of cerebral-vein thrombosis in carriers of a prothrombin-gene mutation and in users of oral contraceptives. N Engl J Med 1998 338[25] 1793-1797. 

The inherited (primary) hypercoagulable states include activated protein C resistance due to the factor V Leiden mutation, prothrombin gene mutation, antithrombin deficiency, protein C or protein S deficiency, and dysfibrino-genemia. The most important cause of activated Protein C resistance is the defect in factor V involving the mutation of Arg506 to Gln506 (191). 

Some observations suggest that dural sinus thrombosis is the primary factor leading to the development of DAVM. This hypothesis seems to be substantiated by findings related to increased thrombotic activity in some patients. Prothrombin gene mutation was found in a patient who developed... 

Prothrombin gene mutation Venous thromboembolism TPrA, Ru(bpy)32 (290)... 

Poort S. R., Landolfi R., Bertina R. M. Compound heterozygosity for two novel missense mutations on the prothrombin gene in a patient with severe bleeding tendency. Thromb Haemost 1997 77,610-5. 

Cattaneo M, Chantarangkul V, Tailoi E, Santos JH, Tagliabue L. The G20210A mutation of the prothrombin gene in patients with previous first episodes of deep-vein thrombosis prevalence and association with factor V G1691 A, methylenetetrahy-drofolate reductase C677T and plasma prothrombin levels. Thrombo Res 1999 93 1-8. 

MartineUi I, Taioli E, Bucciarelli P, Akhavan S, Mannucci PM. Interaction between the G20210A mutation of the prothrombin gene and oral contraceptive use in deep vein thrombosis. Arteriosder Thromb Vase Biol 1999 19 700-3. 

The Val264Met mutation causes decreased TFPI levels (29). It is reported that the Pro-15 I Leu replacement is a risk factor for venous thrombosis (30). A polymorphism in the 5 UTR of the TFPI gene (-287 T/C did not alter the TFPI levels and did not influence the risk of coronary atherothrombosis (3 I). It has been recently reported that the -33T—>C polymorphism in the intron 7 of the TFPI gene influences the risk of venous thromboembolism, independently of the Factor V Leiden and prothrombin mutations, and its effect is mediated by increased total TFPI levels (32). 

Ameziane N, Seguin C, Borgel D, et al, The -33T— C polymorphism in intron 7 of the TFPI gene influences the risk of venous thromboembolism, Independently of Factor V Leiden and Prothrombin mutations, Thromb Haemost 2002 88 195-1 99,... 

An interesting mutation in the gene for prothrombin, a G-to-A transition in the 3 untranslated region at nucleotide 20210, results in an elevated concentration of prothrombin in the circulation (>115% of normal). It is not known if the mutation causes the elevated prothrombin levels, but the defect is associated with a twofold increase in the risk of thrombosis. 

Another X-linked bleeding disorder is hemophilia B, which is caused by mutations in the gene for Factor IX. Lack of Factor IX activity leads to an inability to convert prothrombin to thrombin, and impaired clotting. 

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