Screening for multiple hereditary hypercoagulability factors using the amplification refractory mutation system

Thrombosis Research

Volumn 111, Issue 1-2, 2003, Pages 115-120

  Hoppe, Berthold ^a   Heymann, Guido A ^a   Koscielny, Jürgen ^a   Hellstern, Peter ^b   Kiesewetter, Holger ^a   Salama, Abdulgabar ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

ARMS; Hypercoagulability; PCR; Thrombophilia; Thrombosis

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); APOLIPOPROTEIN E; BIOLOGICAL FACTOR; BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 7; DIPEPTIDYL CARBOXYPEPTIDASE; FIBRINOGEN; GLYCOPROTEIN; ISOPROTEIN; PLASMINOGEN ACTIVATOR INHIBITOR 1; PROTEIN SUBUNIT; PROTHROMBIN; THROMBOMODULIN; TISSUE FACTOR PATHWAY INHIBITOR; TISSUE PLASMINOGEN ACTIVATOR;

ARTICLE; CONTROLLED STUDY; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; HUMAN; HYPERCOAGULABILITY; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0345303913     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.thromres.2003.08.024     Document Type: Article

References (36)

1. Lane D.A., Grant P.J. Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease [Review]. Blood. 95:2000;1517-1532.
2. Hirsh J., Lee A.Y. How we diagnose and treat deep vein thrombosis. Blood. 99:2002;3102-3110.
3. Agnelli G., Prandoni P., Becattini C., Silingardi M., Taliani M.R., Miccio M., et al. Extended oral anticoagulant therapy after a first episode of pulmonary embolism. Ann. Intern. Med. 139:2003;19-25.
4. Bertina R.M., Koeleman B.P., Koster T., Rosendaal F.R., Dirven R.J., de Ronde H., et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 369:1994;64-67.
5. Poort S.R., Rosendaal F.R., Reitsma P.H., Bertina R.M. 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. 88:1996;3698-3703.
6. Frosst P., Blom H.J., Milos R., Goyette P., Sheppard C.A., Matthews R.G., et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase [Letter]. Nat. Genet. 10:1995;111-113.
7. Humphries S.E., Talmud P.J., Hawe E., Bolla M., Day I.N., Miller G.J. Apolipoprotein E4 and coronary heart disease in middle-aged men who smoke: a prospective study. Lancet. 358:2001;115-119.
8. Rosendaal F.R., Siscovick D.S., Schwartz S.M., Beverly R.K., Psaty B.M., Longstreth W.T. Jr., et al. Factor V Leiden (resistance to activated protein C) increases the risk of myocardial infarction in young women. Blood. 89:1997;2817-2821.
9. Faioni E.M., Franchi F., Bucciarelli P., Margaglione M., De Stefano V., Castaman G., et al. Coinheritance of the HR2 haplotype in the factor V gene confers an increased risk of venous thromboembolism to carriers of factor V R506Q (factor V Leiden). Blood. 94:1999;3062-3066.
10. Folsom A.R., Cushman M., Tsai M.Y., Aleksic N., Heckbert S.R., Boland L.L., et al. A prospective study of venous thromboembolism in relation to factor V Leiden and related factors. Blood. 99:2002;2720-2725.
11. Iacoviello L., Di Castelnuovo A., De Knijff P., D'Orazio A., Amore C., Arboretti R., et al. Polymorphisms in the coagulation factor VII gene and the risk of myocardial infarction. N. Engl. J. Med. 338:1998;79-85.
12. Arruda V.R., von Zuben P.M., Chiaparini L.C., Annichino-Bizzacchi J.M., Costa F.F. The mutation Ala677→Val in the methylene tetrahydrofolate reductase gene: a risk factor for arterial disease and venous thrombosis. Thromb. Haemost. 77:1997;818-821.
13. Rosendaal F.R., Siscovick D.S., Schwartz S.M., Psaty B.M., Raghunathan T.E., Vos H.L. A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women. Blood. 90:1997;1747-1750.
14. Kleesiek K., Schmidt M., Gotting C., Schwenz B., Lange S., Muller-Berghaus G., et al. The 536C→T transition in the human tissue factor pathway inhibitor (TFPI) gene is statistically associated with a higher risk for venous thrombosis. Thromb. Haemost. 82:1999;1-5.
15. Doggen C.J., Kunz G., Rosendaal F.R., Lane D.A., Vos H.L., Stubbs P.J., et al. A mutation in the thrombomodulin gene, 127G to A coding for Ala25Thr, and the risk of myocardial infarction in men. Thromb. Haemost. 80:1998;743-748.
16. Kohler H.P., Stickland M.H., Ossei-Gerning N., Carter A., Mikkola H., Grant P.J. Association of a common polymorphism in the factor XIII gene with myocardial infarction. Thromb. Haemost. 79:1998;8-13.
17. Catto A.J., Kohler H.P., Coore J., Mansfield M.W., Stickland M.H., Grant P.J. Association of a common polymorphism in the factor XIII gene with venous thrombosis. Blood. 93:1999;906-908.
18. Nauck M., Hoffmann M.M., Wieland H., Marz W. Evaluation of the apo E genotyping kit on the LightCycler [Technical Brief]. Clin. Chem. 46:2000;722-724.
19. Nauck M., Wieland H., Marz W. Rapid, homogeneous genotyping of the 4G/5G polymorphism in the promoter region of the PAII gene by fluorescence resonance energy transfer and probe melting curves. Clin. Chem. 45:1999;1141-1147.
20. Benson J.M., Ellingsen D., El-Jamil M., Jenkins M., Miller C.H., Dilley A., et al. Factor V Leiden and factor V R2 allele: high-throughput analysis and association with venous thromboembolism. Thromb. Haemost. 86:2001;1188-1192.
21. Happich D., Madlener K., Schwaab R., Hanfland P., Potzsch B. Application of the TaqMan-PCR for genotyping of the prothrombin G20210A mutation and of the thermolabile methylenetetrahydrofolate reductase mutation [Letter]. Thromb. Haemost. 84:2000;144-145.
22. Philipp C.S., Dilley A., Saidi P., Evatt B., Austin H., Zawadsky J., et al. Deletion polymorphism in the angiotensin-converting enzyme gene as a thrombophilic risk factor after hip arthroplasty. Thromb. Haemost. 80:1998;869-873.
23. Santoso S., Kunicki T.J., Kroll H., Haberbosch W., Gardemann A. Association of the platelet glycoprotein Ia C807T gene polymorphism with nonfatal myocardial infarction in younger patients. Blood. 93:1999;2449-2453.
24. Segui R., Estelles A., Mira Y., Espana F., Villa P., Falco C., et al. PAI-1 promoter 4G/5G genotype as an additional risk factor for venous thrombosis in subjects with genetic thrombophilic defects. Br. J. Haematol. 111:2000;122-128.
25. Donohoe G.G., Salomaki A., Lehtimaki T., Pulkki K., Kairisto V. Rapid identification of apolipoprotein E genotypes by multiplex amplification refractory mutation system PCR and capillary gel electrophoresis. Clin. Chem. 45:1999;143-146.
26. Kirschbaum N.E., Foster P.A. The polymerase chain reaction with sequence specific primers for the detection of the factor V mutation associated with activated protein C resistance. Thromb. Haemost. 74:1995;874-878.
27. Poort S.R., Bertina R.M., Vos H.L. Rapid detection of the prothrombin 20210 A variation by allele specific PCR. Thromb. Haemost. 78:1997;1157-1158.
28. Leyte A., Smits P.H.M., van Straalen J.P., von Doorn L.J., Quint W.G.V. Automated, simultaneous detection of the factor V Leiden and prothrombin (G20210A) variants using multiplex PCR and a line probe assay [Letter]. Thromb. Haemost. 83:2000;354-355.
29. Rigat B., Hubert C., Alhenc-Gelas F., Cambien F., Corvol P., Soubrier F. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J. Clin. Invest. 86:1990;1343-1346.
30. Zivelin A., Rosenberg N., Peretz H., Amit Y., Kornbrot N., Seligsohn U. Improved method for genotyping apolipoprotein E polymorphisms by a PCR-based assay simultaneously utilizing two distinct restriction enzymes [Technical Brief]. Clin. Chem. 43:1997;1657-1659.
31. Muriel G., Christine B., Philippe J., Christophe M., Francois S.J., Patricia A.M. An even easier method for one-step detection of both FV Leiden and FII G20210A transition. Blood. 92:1998;3478-3479.
32. Henry M., Morange P.E., Canavy I., Alessi M.C., Juhan-Vague I. Rapid detection of factor XIII Val34Leu by allele specific PCR [Letter]. Thromb. Haemost. 81:1999;463.
33. Thomas A.E., Green F.R., Kelleher C.H., Wilkes H.C., Brennan P.J., Meade T.W., et al. Variation in the promoter region of the beta fibrinogen gene is associated with plasma fibrinogen levels in smokers and non-smokers. Thromb. Haemost. 65:1991;487-490.
34. Corral J., Rivera J., Gonzalez-Conejero R., Vicente V. The number of platelet glycoprotein Ia molecules is associated with the genetically linked 807 C/T and HPA-5 polymorphisms. Transfusion. 39:1999;372-378.
35. van der Bom J.G., de Knijff P., Haverkate F., Bots M.L., Meijer P., de Jong P.T., et al. Tissue plasminogen activator and risk of myocardial infarction. The Rotterdam Study. Circulation. 95:1997;2623-2627.
36. Hoppe B., Kiesewetter H., Bach J., Hellstern P., Salama A. Rapid determination of apolipoprotein E using two-sided allele-specific primer pairs [Letter]. Thromb. Haemost. 89:2003;1108-1110.