Multiplex PCR-RFLP assay for detection of factor V Leiden and prothrombin G20210A

Genet Test. 2004 Winter;8(4):381-3. doi: 10.1089/gte.2004.8.381.

Abstract

Factor V Leiden and prothrombin G20210A are clinically relevant genetic risk factors for venous thrombosis. Molecular diagnostic testing for factor V Leiden and prothrombin G20210A is widespread, and laboratories use a variety of technical approaches. Here we introduce a multiplex polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) based on single (Mn/l) restriction endonuclease digestion. The assay was shown to simultaneously and accurately detect factor V Leiden and prothrombin G20210A mutations.

Publication types

  • Clinical Trial

MeSH terms

  • Activated Protein C Resistance
  • Factor V / genetics*
  • Genetic Testing
  • Humans
  • Point Mutation
  • Polymerase Chain Reaction / methods*
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length*
  • Prothrombin / genetics*
  • Restriction Mapping
  • Risk Factors
  • Sensitivity and Specificity
  • Venous Thrombosis / etiology
  • Venous Thrombosis / genetics

Substances

  • factor V Leiden
  • Factor V
  • Prothrombin