factor V Leiden mutation


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factor V Leiden mutation

An autosomal dominant mutation in coagulation factor V that is found in about 5% of all whites. It produces a hypercoagulable state as a result of inherited resistance to activated protein C. Clinically, it is found in many patients with deep venous thrombosis.
See also: mutation

factor V Leiden mutation

A mutation in the gene for the blood clotting factor V that leads to a type of increased clotting tendency known as activated protein C resistance (APC resistance). The mutation involves a CpG dinucleotide, a common location for a mutation. APC resistance from this cause is recognized as a cause of stroke in children but the mutation is often detected for the first time in people over 60 suffering a first episode of thrombosis. The mutation was discovered in the Thrombosis and Haemostasis Research Centre, University Hospital, Leiden, Netherlands.
References in periodicals archive ?
The gold standard assay for the factor V Leiden mutation involves the use of polymerase chain reaction (PCR) methodology.
These samples were submitted to the laboratory for factor V Leiden mutation detection, and the genotype was initially established by PCR followed by restriction fragment analysis based on the method described by Koeleman et al.
The factor V Leiden mutation prevents proteolytic cleavage of factor V by protein C, which leads to resistance of activated protein C.
Additional genetic risk factors for venous thromboembolism in carriers of the factor V Leiden mutation.
The Quest samples used in the evaluation of the photo-cross-linking assay had previously been tested for factor V Leiden mutation status by a PCR-based assay that used the Read-It[TM] detection system (Promega) (7).
When testing is called for, he recommended testing for factor V Leiden mutation and the prothrombin mutation and performing immunoassays for anticardiolipin antibodies (for antiphospholipid syndrome) and lupus anticoagulant.
Activated protein C resistance and factor V Leiden mutation are independent risk factors for venous thromboembolism.
Studies conducted to date have revealed a number of modulator genes, including angiotensinogen, tumor necrosis factor-alpha, glutathione S-transferase P1, lipoprotein lipase, HLA-G, methylenetetrahydrofolate reductase, factor V Leiden mutation, plasminogen activator inhibitor-1, and insulin-like growth factor 11.
The assay uses oligonucleotide probes modified with photo-activatable crosslinker molecules (7) and has been used to detect the factor V Leiden mutation (8).
The conventional procedures for mutation analyses were as follows: the factor V Leiden mutation was detected by PCR followed by MnII restriction analysis and 3% Wide Range agarose electrophoresis as described (4); the prothrombin mutation was detected by the method of Poort et al.