A Whole Blood, Multiplex PCR Detection Method for Factor V Leiden and the Prothrombin G20210A Variant

• References

• 1 Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, De Ronde H, van der Velden PA, Reitsma PH.. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.
• 2 Svensson PJ, Dahlbäck B.. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330: 517-22.
• 3 Poort SR, Rosendaal FR, Reitsma PH, Bertina RM.. A common genetic variation in the 3’-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88: 3698-703.
• 4 Cumming AM, Keeney S, Salden A, Bhavnani M, Shwe KH, Hay CRM.. The prothrombin gene G20210A variant: prevalence in a U.K. anticoagulant clinic population. Br J Haematol 1997; 98: 353-55.
• 5 Hillarp A, Zöller B, Svensson PJ, Dahlbäck B.. The 20210 A allele of the prothrombin gene is a common risk factor among Swedish outpatients with verified deep venous thrombosis. Thromb Haemost 1997; 78: 990-2.
• 6 Gómez E, van der Poel SCPAM, Jansen JH, van der Reijden BA, Löwenberg B.. Rapid simultaneous screening of factor V Leiden and G20210A prothrombin variant by multiplex polymerase chain reaction on whole blood. Blood 1998; 91: 2208-9.
• 7 Bowen DJ, Bowley S, John M, Collins PW.. Factor V Leiden (G1691A), the prothrombin 3’-untranslated region variant (G20210A) and thermolabile methylene tetrahydrofolate reductase (C677T): a single genetic test geno-types all three loci – determination of allele frequencies in the S. Wales population of the UK. Thromb Haemost 1998; 79: 949-54.
• 8 Ripoll L, Paulin D, Thomas S, Drouet O.. Multiplex PCR-mediated site directed mutagenesis for one-step determination of factor V Leiden and G20210A transition of the prothrombin gene. Thromb Haemost 1997; 78: 960-1.
• 9 Hézard N, Cornillet-Lefebvre P, Gillot L, Potron G, Nguyen P.. Multiplex ASA PCR for a simultaneous determination of Factor V Leiden Gene, G-A 20210 prothrombin gene and C-T 677 MTHFR gene mutations. Thromb Haemost 1998; 79: 1054-5.
• 10 Hayashi K.. PCR SSCP – single-strand conformation polymorphism analysis of PCR products. In: Laboratory Protocols for Mutation Detection. Ulf Landegren, ed. Oxford University Press 1996; 14-22.
• 11 Beauchamp NJ, Daly ME, Hampton KK, Cooper PC, Preston FE, Peake IR.. High prevalence of a mutation in the factor V gene within the UK population: relationship to activated protein C resistance and familial thrombosis. Br J Haematol 1994; 88: 219-22.
• 12 Degen SJF, Davie EW.. Nucleotide sequence of the gene for human prothrombin. Biochemistry 1987; 26: 6165-77.
• 13 Leibman HA, Sutherland D, Bacon R, McGehee W.. Evaluation of a tissue factor dependent factor V assay to detect FV Leiden: demonstration of high sensitivity and specificity for a generally applicable assay for activated protein C resistance. Br J Haematol 1996; 95: 550-3.
• 14 Cumming AM, Keeney S, Salden A, Shanks D, Hay CRM.. Potential misdiagnosis of factor V Leiden: a comparison of two genotyping techniques. Thromb Haemost 1997; 77: 1217.