32 Tests - R306T
Factor V Cambridge
DuplicαRealTime Factor V R306T Cambridge Genotyping Kit is an in vitro diagnostic test for the detection of the allelic variant g.169524537C>G of the blood coagulation Factor V gene in human genomic DNA, by Real-Time PCR.
Overview
Blood coagulation is regulated by the concerted action of several enzyme–cofactor complexes, which assemble on the membrane of a variety of cell types at the interface between the blood stream and the vasculature. While some of these complexes serve a procoagulant function, others play an anticoagulant role and as such constitute a delicately balanced regulatory system in which thrombin is the key regulatory enzyme. In maintaining the balance between pro- and anticoagulant pathways, the blood coagulation Factor V (FV) plays a particular role in that it combines both pro- and anticoagulant properties in a single protein. Besides its cofactor role in prothrombinase conversion, FV also serves as Activated Protein C (APC) cofactor in Factor VIIIa (FVIIIa) inactivation. Both functions of FV are regulated by limited proteolysis. Thrombin-dependent cleavage at Arg709, Arg1018 and Arg1545 activates FV, but abolishes APC cofactor activity at the same time. Conversely, APC-dependent FV cleavage at Arg506 promotes APC cofactor activity but reduces FXa cofactor activity. Finally, FVa is rapidly cleaved by APC at Arg306, Arg506 and Arg679, thereby eliminating FVa activity. The importance of FVa inactivation in down-regulating thrombin formation is apparent from the notion that mutations in the APC cleavage sites Arg306 or Arg506 lead to APC resistance, which is the most common risk factor for venous thrombosis.
Targets:
- R306T aminoacidic substitution in the human Factor V gene
- Internal Control (IC)
Diagnostic samples:
- Peripheral whole blood samples collected in EDTA
DNA Extraction:
-
Compatible with the most common DNA Extraction and Purification Systems
Real-Time PCR instruments:
-
Compatible with the most common Real-Time PCR Systems