Coagulation

Coagulation - (pdf info)

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.

Warfarin Sensitivity - (pdf info)

It was recently published a new pharmacogenetic algorithm, developed on the Italian population, associated with sensitivity to warfarin (SNPs: CYP2C9*2, CYP2C9*3, VCORK1 G1639A) and resistance to warfarin (SNPs: VCORK1 G3730A) which more accurately identifies patients who require high doses of drug. “Anticoagulation kit 1 - RQ” allows the analysis of these polymorphisms (CYP2C9*2, CYP2C9*3, VCORK1 G1639A and G3730A) by Real Time PCR.