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Volumn 42, Issue 12, 2004, Pages 1364-1369

Rapid combined genotyping of factor V, prothrombin and methylenetetrahydrofolate reductase single nucleotide polymorphisms using minor groove binding DNA oligonucleotides (MGB probes) and real-time polymerase chain reaction

Author keywords

Minor groove binder; Mutation detection; Real time polymerase chain reaction (PCR); Single nuleotide polymorphism; Thrombosis

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5 LEIDEN; GENOMIC DNA; OLIGONUCLEOTIDE; PRIMER DNA; PROTHROMBIN;

EID: 11244302457     PISSN: 14346621     EISSN: None     Source Type: Journal    
DOI: 10.1515/CCLM.2004.255     Document Type: Article
Times cited : (16)

References (36)
  • 2
    • 0032562254 scopus 로고    scopus 로고
    • Interaction of coagulation defects and cardiovascular risk factors: Increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A
    • Doggen CJ, Cats VM, Bertina RM, Rosendaal FR. Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. Circulation 1998;97:1037-41.
    • (1998) Circulation , vol.97 , pp. 1037-1041
    • Doggen, C.J.1    Cats, V.M.2    Bertina, R.M.3    Rosendaal, F.R.4
  • 3
    • 0042658340 scopus 로고    scopus 로고
    • Incidence of recurrent venous thromboembolism in relation to clinical and thrombophilic risk factors: Prospective cohort study
    • Baglin T, Luddington R, Brown K, Baglin C. Incidence of recurrent venous thromboembolism in relation to clinical and thrombophilic risk factors: prospective cohort study. Lancet 2003;362:523-6.
    • (2003) Lancet , vol.362 , pp. 523-526
    • Baglin, T.1    Luddington, R.2    Brown, K.3    Baglin, C.4
  • 4
    • 0032529506 scopus 로고    scopus 로고
    • A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene
    • Zivelin A, Rosenberg N, Faier S, Kornbrot N, Peretz H, Mannhalter C, et al. A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene. Blood 1998;92:1119-24.
    • (1998) Blood , vol.92 , pp. 1119-11124
    • Zivelin, A.1    Rosenberg, N.2    Faier, S.3    Kornbrot, N.4    Peretz, H.5    Mannhalter, C.6
  • 5
    • 0037085791 scopus 로고    scopus 로고
    • Incidence of venous thromboembolism in asymptomatic family members who are carriers of factor V Leiden: A prospective cohort study
    • Simioni P, Tormene D, Prandoni P, Zerbinati P, Gavasso S, Cefalo P, et al. Incidence of venous thromboembolism in asymptomatic family members who are carriers of factor V Leiden: a prospective cohort study. Blood 2002;99:1938-42.
    • (2002) Blood , vol.99 , pp. 1938-1942
    • Simioni, P.1    Tormene, D.2    Prandoni, P.3    Zerbinati, P.4    Gavasso, S.5    Cefalo, P.6
  • 6
    • 0031730409 scopus 로고    scopus 로고
    • The prothrombin gene G20210A variant in an unselected thromboembolic population. A Belgian prospective clinical study
    • Hainaut P, Gala JL, Lesage V, Lavenne E, Azerad MA, Zech F, et al. The prothrombin gene G20210A variant in an unselected thromboembolic population. A Belgian prospective clinical study. Acta Clin Belg 1998; 53:344-8.
    • (1998) Acta Clin. Belg. , vol.53 , pp. 344-348
    • Hainaut, P.1    Gala, J.L.2    Lesage, V.3    Lavenne, E.4    Azerad, M.A.5    Zech, F.6
  • 7
    • 0032848267 scopus 로고    scopus 로고
    • Simultaneous detection of FV Q506 and prothrombin 20210 A variation by allele-specific PCR
    • Mitterer M, Lanthaler AJ, Mair W, Giacomuzzi K, Coser P. Simultaneous detection of FV Q506 and prothrombin 20210 A variation by allele-specific PCR. Haematologica 1999;84:204-7.
    • (1999) Haematologica , vol.84 , pp. 204-207
    • Mitterer, M.1    Lanthaler, A.J.2    Mair, W.3    Giacomuzzi, K.4    Coser, P.5
  • 8
    • 0037373178 scopus 로고    scopus 로고
    • Serum homocysteine, thermolabile variant of methylene tetrahydrofolate reductase (MTHFR), and venous thromboembolism: Longitudinal Investigation of Thromboembolism Etiology (LITE)
    • Tsai AW, Cushman M, Tsai MY, Heckbert SR, Rosamond WD, Aleksic N, et al. Serum homocysteine, thermolabile variant of methylene tetrahydrofolate reductase (MTHFR), and venous thromboembolism: Longitudinal Investigation of Thromboembolism Etiology (LITE). Am J Hematol 2003;72:192-200.
    • (2003) Am. J. Hematol. , vol.72 , pp. 192-200
    • Tsai, A.W.1    Cushman, M.2    Tsai, M.Y.3    Heckbert, S.R.4    Rosamond, W.D.5    Aleksic, N.6
  • 9
    • 0034000380 scopus 로고    scopus 로고
    • Common C677T polymorphism in the methylenetetrahydrofolate reductase gene increases the risk for deep vein thrombosis in patients with predisposition of thrombophilia
    • Fujimura H, Kawasaki T, Sakata T, Ariyoshi H, Kato H, Monden M, et al. Common C677T polymorphism in the methylenetetrahydrofolate reductase gene increases the risk for deep vein thrombosis in patients with predisposition of thrombophilia. Thromb Res 2000;98:1-8.
    • (2000) Thromb. Res. , vol.98 , pp. 1-8
    • Fujimura, H.1    Kawasaki, T.2    Sakata, T.3    Ariyoshi, H.4    Kato, H.5    Monden, M.6
  • 10
    • 0037393505 scopus 로고    scopus 로고
    • Thrombophilia in infancy: Factor V Leiden and MTHFR or factor II double heterozygocity as a risk factor
    • Koren A, Levin C, Hujirat Y, El-Hasid R, Kutai M, Lanir N, et al. Thrombophilia in infancy: factor V Leiden and MTHFR or factor II double heterozygocity as a risk factor. Pediatr Hematol Oncol 2003;20:219-27.
    • (2003) Pediatr. Hematol. Oncol. , vol.20 , pp. 219-227
    • Koren, A.1    Levin, C.2    Hujirat, Y.3    El-Hasid, R.4    Kutai, M.5    Lanir, N.6
  • 11
    • 0032863447 scopus 로고    scopus 로고
    • C677T substitution in the methylenetetrahydrofolate reductase gene as a risk factor for venous thrombosis and arterial disease in selected patients
    • Gemmati D, Serino ML, Trivellato C, Fiorini S, Scapoli GL. C677T substitution in the methylenetetrahydrofolate reductase gene as a risk factor for venous thrombosis and arterial disease in selected patients. Haematologica 1999;84:824-8.
    • (1999) Haematologica , vol.84 , pp. 824-828
    • Gemmati, D.1    Serino, M.L.2    Trivellato, C.3    Fiorini, S.4    Scapoli, G.L.5
  • 13
    • 0344898475 scopus 로고    scopus 로고
    • Prevalence of the C677T substitution of the methylenetetrahydrofolate reductase (MTHFR) gene in Wisconsin
    • Qi Z, Hoffman G, Kurtycz D, Yu J. Prevalence of the C677T substitution of the methylenetetrahydrofolate reductase (MTHFR) gene in Wisconsin. Genet Med 2003;5:458-9.
    • (2003) Genet. Med. , vol.5 , pp. 458-459
    • Qi, Z.1    Hoffman, G.2    Kurtycz, D.3    Yu, J.4
  • 14
    • 0037079957 scopus 로고    scopus 로고
    • Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A
    • Rady PL, Szucs S, Grady J, Hudnall SD, Kellner LH, Nitowsky H, et al. Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A. Am J Med Genet 2002;107:162-8.
    • (2002) Am. J. Med. Genet. , vol.107 , pp. 162-168
    • Rady, P.L.1    Szucs, S.2    Grady, J.3    Hudnall, S.D.4    Kellner, L.H.5    Nitowsky, H.6
  • 15
    • 4644257018 scopus 로고    scopus 로고
    • C677T methylene-tetrahydrofolate reductase mutation in type 2 diabetic patients with and without hyperhomocysteinaemia
    • In press
    • Buysschaert M, Gala JL, Bessomo A, Hermans M. C677T methylene-tetrahydrofolate reductase mutation in type 2 diabetic patients with and without hyperhomocysteinaemia. Diabetes Metab. In press.
    • Diabetes Metab.
    • Buysschaert, M.1    Gala, J.L.2    Bessomo, A.3    Hermans, M.4
  • 16
    • 0036799252 scopus 로고    scopus 로고
    • Screening for inherited thrombophilia: Indications and therapeutic implications
    • De Stefano V, Rossi E, Paciaroni K, Leone G. Screening for inherited thrombophilia: indications and therapeutic implications. Haematologica 2002;87:1095-108.
    • (2002) Haematologica , vol.87 , pp. 1095-1108
    • De Stefano, V.1    Rossi, E.2    Paciaroni, K.3    Leone, G.4
  • 17
    • 0034252545 scopus 로고    scopus 로고
    • Analytical evaluation of primer engineered multiplex polymerase chain reaction-restriction fragment length polymorphism for detection of factor V Leiden and prothrombin G20210A
    • Huber S, McMaster KJ, Voelkerding KV. Analytical evaluation of primer engineered multiplex polymerase chain reaction-restriction fragment length polymorphism for detection of factor V Leiden and prothrombin G20210A. J Mol Diagn 2000;2:153-7.
    • (2000) J. Mol. Diagn. , vol.2 , pp. 153-157
    • Huber, S.1    McMaster, K.J.2    Voelkerding, K.V.3
  • 18
    • 0031430435 scopus 로고    scopus 로고
    • A microplate allele-specific oligonucleotide hybridization assay for detection of factor V Leiden
    • Zehnder JL, Benson RC, Cheng S. A microplate allele-specific oligonucleotide hybridization assay for detection of factor V Leiden. Diagn Mol Pathol 1997;6:347-52.
    • (1997) Diagn. Mol. Pathol. , vol.6 , pp. 347-352
    • Zehnder, J.L.1    Benson, R.C.2    Cheng, S.3
  • 19
    • 0031451539 scopus 로고    scopus 로고
    • Real-time fluorescence genotyping of factor V Leiden during rapid-cycle PCR
    • Lay MJ, Wittwer CT. Real-time fluorescence genotyping of factor V Leiden during rapid-cycle PCR. Clin Chem 1997;43:2262-7.
    • (1997) Clin. Chem. , vol.43 , pp. 2262-2267
    • Lay, M.J.1    Wittwer, C.T.2
  • 20
    • 0031984605 scopus 로고    scopus 로고
    • Integrated amplification and detection of the C677T point mutation in the methylenetetrahydrofolate reductase gene by fluorescence resonance energy transfer and probe melting curves
    • Bernard PS, Lay MJ, Wittwer CT. Integrated amplification and detection of the C677T point mutation in the methylenetetrahydrofolate reductase gene by fluorescence resonance energy transfer and probe melting curves. Anal Biochem 1998;255:101-7.
    • (1998) Anal. Biochem. , vol.255 , pp. 101-107
    • Bernard, P.S.1    Lay, M.J.2    Wittwer, C.T.3
  • 21
    • 0032791267 scopus 로고    scopus 로고
    • High-speed prothrombin G→A 20210 and methylenetetrahydrofolate reductase C→T 677 mutation detection using real-time fluorescence PCR and melting curves
    • 238
    • Aslanidis C, Nauck M, Schmitz G. High-speed prothrombin G→A 20210 and methylenetetrahydrofolate reductase C→T 677 mutation detection using real-time fluorescence PCR and melting curves. Biotechniques 1999;27:234-6, 238.
    • (1999) Biotechniques , vol.27 , pp. 234-236
    • Aslanidis, C.1    Nauck, M.2    Schmitz, G.3
  • 22
    • 0032921340 scopus 로고    scopus 로고
    • Rapid detection of prothrombotic mutations of prothrombin (G20210A), factor V (G1691A), and methylenetetrahydrofolate reductase (C677T) by real-time fluorescence PCR with the LightCycler
    • von Ahsen N, Schutz E, Armstrong VW, Oellerich M. Rapid detection of prothrombotic mutations of prothrombin (G20210A), factor V (G1691A), and methylenetetrahydrofolate reductase (C677T) by real-time fluorescence PCR with the LightCycler. Clin Chem 1999;45:694-6.
    • (1999) Clin. Chem. , vol.45 , pp. 694-696
    • von Ahsen, N.1    Schutz, E.2    Armstrong, V.W.3    Oellerich, M.4
  • 23
    • 0035169840 scopus 로고    scopus 로고
    • Factor V Leiden and factor V R2 allele: High-throughput analysis and association with venous thromboembolism
    • Benson JM, Ellingsen D, El-Jamil M, Jenkins M, Miller CH, Dilley A, et al. Factor V Leiden and factor V R2 allele: high-throughput analysis and association with venous thromboembolism. Thromb Haemost 2001;86: 1188-92.
    • (2001) Thromb. Haemost. , vol.86 , pp. 1188-1192
    • Benson, J.M.1    Ellingsen, D.2    El-Jamil, M.3    Jenkins, M.4    Miller, C.H.5    Dilley, A.6
  • 24
    • 0035289548 scopus 로고    scopus 로고
    • Real-time polymerase chain reaction with fluorescent hybridization probes for the detection of prevalent mutations causing common thrombophilic and iron overload phenotypes
    • Parks SB, Popovich BW, Press RD. Real-time polymerase chain reaction with fluorescent hybridization probes for the detection of prevalent mutations causing common thrombophilic and iron overload phenotypes. Am J Clin Pathol 2001;115:439-47.
    • (2001) Am. J. Clin. Pathol. , vol.115 , pp. 439-447
    • Parks, S.B.1    Popovich, B.W.2    Press, R.D.3
  • 25
    • 0038509102 scopus 로고    scopus 로고
    • Combined factor V Leiden (G1691A) and prothrombin (G20210A) genotyping by multiplex real-time polymerase chain reaction using fluorescent resonance energy transfer hybridization probes on the Rotor-Gene 2000
    • Ameziane N, Lamotte M, Lamoril J, Lebret D, Deybach JC, Kaiser T, et al. Combined factor V Leiden (G1691A) and prothrombin (G20210A) genotyping by multiplex real-time polymerase chain reaction using fluorescent resonance energy transfer hybridization probes on the Rotor-Gene 2000. Blood Coagul Fibrinolysis 2003; 14:421-4.
    • (2003) Blood Coagul. Fibrinolysis , vol.14 , pp. 421-424
    • Ameziane, N.1    Lamotte, M.2    Lamoril, J.3    Lebret, D.4    Deybach, J.C.5    Kaiser, T.6
  • 27
    • 0036242703 scopus 로고    scopus 로고
    • Rapid genotyping of single nucleotide polymorphisms using novel minor groove binding DNA oligonucleotides (MGB probes)
    • de Kok JB, Wiegerinck ET, Giesendorf BA, Swinkels DW. Rapid genotyping of single nucleotide polymorphisms using novel minor groove binding DNA oligonucleotides (MGB probes). Hum Mutat 2002;19:554-9.
    • (2002) Hum. Mutat. , vol.19 , pp. 554-559
    • de Kok, J.B.1    Wiegerinck, E.T.2    Giesendorf, B.A.3    Swinkels, D.W.4
  • 29
    • 0029850530 scopus 로고    scopus 로고
    • 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
    • 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.
    • (1996) Blood , vol.88 , pp. 3698-3703
    • Poort, S.R.1    Rosendaal, F.R.2    Reitsma, P.H.3    Bertina, R.M.4
  • 30
    • 0023230641 scopus 로고
    • Nucleotide sequence of the gene for human prothrombin
    • Degen SJ, Davie EW. Nucleotide sequence of the gene for human prothrombin. Biochemistry 1987;26: 6165-77.
    • (1987) Biochemistry , vol.26 , pp. 6165-6177
    • Degen, S.J.1    Davie, E.W.2
  • 31
    • 0029049553 scopus 로고
    • A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
    • Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-3.
    • (1995) Nat. Genet. , vol.10 , pp. 111-113
    • Frosst, P.1    Blom, H.J.2    Milos, R.3    Goyette, P.4    Sheppard, C.A.5    Matthews, R.G.6
  • 32
    • 0035043035 scopus 로고    scopus 로고
    • Fluorescence-based detection of the CETP TaqIB polymorphism: False positives with the TaqMan-based exonuclease assay attributable to a previously unknown gene variant
    • Teupser D, Rupprecht W, Lohse P, Thiery J. Fluorescence-based detection of the CETP TaqIB polymorphism: false positives with the TaqMan-based exonuclease assay attributable to a previously unknown gene variant. Clin Chem 2001;47:852-7.
    • (2001) Clin. Chem. , vol.47 , pp. 852-857
    • Teupser, D.1    Rupprecht, W.2    Lohse, P.3    Thiery, J.4
  • 33
    • 0029993889 scopus 로고    scopus 로고
    • Evaluation of a tissue factor dependent factor V assay to detect factor V Leiden: Demonstration of high sensitivity and specificity for a generally applicable assay for activated protein C resistance
    • Liebman HA, Sutherland D, Bacon R, McGehee W. Evaluation of a tissue factor dependent factor V assay to detect factor V Leiden: demonstration of high sensitivity and specificity for a generally applicable assay for activated protein C resistance. Br J Haematol 1996; 95:550-3.
    • (1996) Br. J. Haematol. , vol.95 , pp. 550-553
    • Liebman, H.A.1    Sutherland, D.2    Bacon, R.3    McGehee, W.4
  • 34
    • 0032437725 scopus 로고    scopus 로고
    • Detection and identification of base alterations within the region of factor V Leiden by fluorescent melting curves
    • Lyondagger E, Millsondagger A, Phan T, Wittwer CT. Detection and identification of base alterations within the region of factor V Leiden by fluorescent melting curves. Mol Diagn 1998;3:203-9.
    • (1998) Mol. Diagn. , vol.3 , pp. 203-209
    • Lyondagger, E.1    Millsondagger, A.2    Phan, T.3    Wittwer, C.T.4
  • 35
    • 0033515068 scopus 로고    scopus 로고
    • G20210A mutation in prothrombin gene and risk of myocardial infarction, stroke, and venous thrombosis in a large cohort of US men
    • Ridker PM, Hennekens CH, Miletich JP. G20210A mutation in prothrombin gene and risk of myocardial infarction, stroke, and venous thrombosis in a large cohort of US men. Circulation 1999;99:999-1004.
    • (1999) Circulation , vol.99 , pp. 999-1004
    • Ridker, P.M.1    Hennekens, C.H.2    Miletich, J.P.3


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