Kit for multiplex detection of the -675 PAI-1 4G/5G polymorphism at SERPINE1 gene and rs5985 (Val34Leu) at the F13A1 gene by real-time PCR using TaqMan® probes technology.
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Thrombophilia refers to the predisposition to form blood clots, caused by an underlying state of hypercoagulability, attributable to disorders of blood coagulation or fibrinolysis that can be hereditary or acquired. Thrombophilia is associated with the risk of deep vein thrombosis (DVT) and/or venous thromboembolism (VTE).
PAI-1 is one of the most important components of the fibrinolytic system, responsible for approximately 60% of the inhibitory activity against plasminogen activators. Recent studies have investigated the 4G/5G polymorphism located in the promoter region of the gene coding for PAI-1, SERPINE1, as a mechanism that regulates both the plasma levels and activity of PAI-1. The 4G allele could bind to the transcription activator, enhancing mRNA transcription and increasing PAI-1 levels, leading to a reduced fibrinolytic state and, consequently, a higher risk of venous thromboembolism.
On the other hand, factor XIII is a transglutaminase that plays an essential role in stabilizing the fibrin clot through cross-linking of fibrin fibers. The Val34Leu mutation, located in the A subunit of FXIII, causes a change in the protein structure that alters its coagulation activity. Unlike other mutations associated with thrombophilia, the Val34Leu mutation has been linked to a protective effect against thrombosis due to its ability to accelerate FXIII activation and promote the formation of a more resilient fibrin clot that is less prone to promoting thrombosis.