The physiological coagulation cascade involves extensive biochemical pathways including intrinsic and extrinsic coagulation pathways. Genetic mutations in specifi c genes can manifest as different pathologies.The most common mutations are the Arg506Gly (G1691A) mutation of the factor V gene (factor V Leiden), responsible for activated protein C resistance, and the G20210A in the 3’-untranslated region of the prothrombin gene (factor II). While the contribution of the C677T variant of methylenetetrahydrofolate reductase (MTHFR) in the pathogenesis of venous thromboembolism is still debat-ed, it has frequently been identifi ed as being involved in the pathogenesis of cardiovascular diseases. A second function- al single nucleotide polymorphism, A1298C, has been described for MTHFR gene. It is associated with reduced enzyme activity although to a lesser extent than that seen with C677T. Experteam offers a complete system for allelic discrimination (genotpyping) of factor V Leiden (G1691A ), prothrombin G20210A, MTHFR C677T and A1298C by Real Time PCR. Plasminogen activator inhibitor type 1(PAI-1) is an important component of the coagulation system that down-regulates fibrinolysis in the circulation. Elevated circulating levels of PAI-1, have been related to the development of myocardial infarction. There is evidence that a single nucleotide insertion/deletion (4G/5G) polymorphism in the promoter region of the PAI-1 gene is associated with circulating PAI-1 levels.

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