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Volumn 81, Issue 5, 1999, Pages 733-738

Prevalence of prothrombin G20210A, factor V G1691A (Leiden), and methylenetetrahydrofolate reductase (MTHFR) C677T in seven different populations determined by multiplex allele-specific PCR

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5; PROTHROMBIN;

EID: 0032933161     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1614563     Document Type: Article
Times cited : (123)

References (39)
  • 1
    • 0018966649 scopus 로고
    • Incidence of acute deep vein thrombosis in two districts. A phlebographic study
    • Kierkegaard A, Incidence of acute deep vein thrombosis in two districts. A phlebographic study. Acta Chir Scand 1981; 246: 267-9.
    • (1981) Acta Chir Scand , vol.246 , pp. 267-269
    • Kierkegaard, A.1
  • 2
    • 0028000665 scopus 로고
    • Activated protein C resistance as an additional risk factor for thrombosis in protein C deficient families
    • Koeleman BPC, Reitsma PH, Allaart CF, Bertina RM. Activated protein C resistance as an additional risk factor for thrombosis in protein C deficient families. Blood 1994; 84: 1031-5.
    • (1994) Blood , vol.84 , pp. 1031-1035
    • Koeleman, B.P.C.1    Reitsma, P.H.2    Allaart, C.F.3    Bertina, R.M.4
  • 3
    • 0029016883 scopus 로고
    • Resistance to activated protein C as an additional risk factor in hereditary deficiency of protein S
    • Zoller B, Berntsdotte A, Garcia de Frutos P, Dahlbäck B. Resistance to activated protein C as an additional risk factor in hereditary deficiency of protein S. Blood 1995; 85: 3518-23.
    • (1995) Blood , vol.85 , pp. 3518-3523
    • Zoller, B.1    Berntsdotte, A.2    Garcia De Frutos, P.3    Dahlbäck, B.4
  • 6
    • 0029014036 scopus 로고
    • An allosteric switch controls the procoagulant and anticoagulant activities of thrombin
    • Dang OD, Vindigni A, di Cera E. An allosteric switch controls the procoagulant and anticoagulant activities of thrombin. Proc Natl Acad Sci USA 1995; 92: 5977-81.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 5977-5981
    • Dang, O.D.1    Vindigni, A.2    Di Cera, E.3
  • 7
    • 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
  • 9
    • 0030845360 scopus 로고    scopus 로고
    • The 20210 A allele of the prothiombin gene is a common risk factor among Swedish outpatients with verified deep venous thrombosis
    • Hillarp A, Zoller B, Svensson PJ, Dahlbäck B. The 20210 A allele of the prothiombin gene is a common risk factor among Swedish outpatients with verified deep venous thrombosis. Thromb Haemost 1997; 78: 990-2.
    • (1997) Thromb Haemost , vol.78 , pp. 990-992
    • Hillarp, A.1    Zoller, B.2    Svensson, P.J.3    Dahlbäck, B.4
  • 10
    • 0027446268 scopus 로고
    • Familial thrombophilia due to a previously unrecognized mechanism characterized by a poor anticoagulant response to activated protein C: Prediction of a cofactor to activated protein c
    • Dahlbäck B, Carlson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by a poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004-8.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 1004-1008
    • Dahlbäck, B.1    Carlson, M.2    Svensson, P.J.3
  • 11
    • 0028098210 scopus 로고
    • Resistance to activated protein C as a basis for venous thrombosis
    • Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. New Engl J Med 1994; 330: 517-21.
    • (1994) New Engl J Med , vol.330 , pp. 517-521
    • Svensson, P.J.1    Dahlbäck, B.2
  • 13
    • 0029080341 scopus 로고
    • Resistance to activated protein C and factor V Leiden as risk factors for venous thrombosis
    • Bertina RM, Reitsma RH, Rosendaal FR, Vandenbroucke JP. Resistance to activated protein C and factor V Leiden as risk factors for venous thrombosis. Thromb Haemost 1995; 74: 449-553.
    • (1995) Thromb Haemost , vol.74 , pp. 449-553
    • Bertina, R.M.1    Reitsma, R.H.2    Rosendaal, F.R.3    Vandenbroucke, J.P.4
  • 14
    • 0028931717 scopus 로고
    • High risk of thrombosis in patients homozygous for factor V Leiden (APC resistance)
    • Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (APC resistance). Blood 1995; 85: 1505-8.
    • (1995) Blood , vol.85 , pp. 1505-1508
    • Rosendaal, F.R.1    Koster, T.2    Vandenbroucke, J.P.3    Reitsma, P.H.4
  • 15
    • 0026034240 scopus 로고
    • Thermolabile methylenetetrahydrofolate reductase: An inherited risk factor for coronary artery disease
    • Kang, SS, Wong PWK, Susmano A, Sora J, Norusis M, Ruggie N. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. Am J Hum Genet 1991; 48: 536-45.
    • (1991) Am J Hum Genet , vol.48 , pp. 536-545
    • Kang, S.S.1    Wong, P.W.K.2    Susmano, A.3    Sora, J.4    Norusis, M.5    Ruggie, N.6
  • 19
    • 0017284939 scopus 로고
    • The pathogenesis of coronary artery disease: A possible role for methionine metabolism
    • Wilcken DEL, Wilcken B. The pathogenesis of coronary artery disease: a possible role for methionine metabolism. J Clin Invest 1976; 57: 1079-82.
    • (1976) J Clin Invest , vol.57 , pp. 1079-1082
    • Wilcken, D.E.L.1    Wilcken, B.2
  • 21
    • 0028670786 scopus 로고
    • Homocyst(e)ine and arterial occlusive diseases
    • Malinow MR. Homocyst(e)ine and arterial occlusive diseases. J Intern Med 1994; 236: 603-17.
    • (1994) J Intern Med , vol.236 , pp. 603-617
    • Malinow, M.R.1
  • 23
    • 0002180743 scopus 로고    scopus 로고
    • Risk of venous thrombosis in carriers of a common mutation in the homocysteine regulatory enzyme methylenetetrahydrofolate reductase
    • Ocal IT, Sadeghi A, Press RD. Risk of venous thrombosis in carriers of a common mutation in the homocysteine regulatory enzyme methylenetetrahydrofolate reductase. Molecular Diagnosis 1997; 2: 61-8.
    • (1997) Molecular Diagnosis , vol.2 , pp. 61-68
    • Ocal, I.T.1    Sadeghi, A.2    Press, R.D.3
  • 24
    • 0029153954 scopus 로고
    • The polymerase chain reaction with sequence specific primers for the detection of the factor V mutation associated with activated protein C resistance
    • Kirschbaum NE, Foster PA. The polymerase chain reaction with sequence specific primers for the detection of the factor V mutation associated with activated protein C resistance. Thromb Haemost 1995; 74: 874-8.
    • (1995) Thromb Haemost , vol.74 , pp. 874-878
    • Kirschbaum, N.E.1    Foster, P.A.2
  • 25
    • 0032068646 scopus 로고    scopus 로고
    • Multiplex ASA PCR for a simutaneous determination of factor V Leiden gene, G→A 20210 prothrombin gene, and C→T MTHFR gene mutations
    • Hezard N, Cornillet-Lefebvre P, Gillot L, Potron G, Nguyen P. Multiplex ASA PCR for a simutaneous determination of factor V Leiden gene, G→A 20210 prothrombin gene, and C→T MTHFR gene mutations. Thromb Haemost 1998; 79: 1054-5.
    • (1998) Thromb Haemost , vol.79 , pp. 1054-1055
    • Hezard, N.1    Cornillet-Lefebvre, P.2    Gillot, L.3    Potron, G.4    Nguyen, P.5
  • 26
    • 0031205597 scopus 로고    scopus 로고
    • Multiplex PCR-mediated site directed mutagenesis for one-step determination of factor V Leiden and G20210A transition of the prothrombin gene
    • Ripoll L, Paulin D, Thomas S, Drouer LO. 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.
    • (1997) Thromb Haemost , vol.78 , pp. 960-961
    • Ripoll, L.1    Paulin, D.2    Thomas, S.3    Drouer, L.O.4
  • 27
    • 0032521251 scopus 로고    scopus 로고
    • Rapid simutaneous screening of factor V Leiden and G20210A variant by multiplex polymerase chain reaction on whole blood
    • Gomez E, van der Poel SCPAM, Jansen JH, van der Reijden BA, Lowenberg B. Rapid simutaneous screening of factor V Leiden and G20210A variant by multiplex polymerase chain reaction on whole blood. Blood 1998; 91: 2208-11.
    • (1998) Blood , vol.91 , pp. 2208-2211
    • Gomez, E.1    Van Der Poel, S.C.P.A.M.2    Jansen, J.H.3    Van Der Reijden, B.A.4    Lowenberg, B.5
  • 28
    • 0031955592 scopus 로고    scopus 로고
    • Factor V Leiden (G1691A), the prothrombin 3′-untranslated region variant (G20210A) and thermolabile methylenetetrahydrofolate reductase (C677T): A single genetic test genotypes at all three loci - Determination of frequencies in the S. Wales population of the UK
    • Bowen DJ, Bowley S, John M, Collins PW. Factor V Leiden (G1691A), the prothrombin 3′-untranslated region variant (G20210A) and thermolabile methylenetetrahydrofolate reductase (C677T): A single genetic test genotypes at all three loci - Determination of frequencies in the S. Wales population of the UK. Thromb Haemost 1998; 79: 949-54.
    • (1998) Thromb Haemost , vol.79 , pp. 949-954
    • Bowen, D.J.1    Bowley, S.2    John, M.3    Collins, P.W.4
  • 29
    • 0030714108 scopus 로고    scopus 로고
    • Prevalence of the prothrombin gene variant (nt20210A) in venous thrombosis and arterial disease
    • Arruda VR, Annichino-Bizzacchi JM, Goncalves MS, Costa FF. Prevalence of the prothrombin gene variant (nt20210A) in venous thrombosis and arterial disease. Thromb Haemost 1997; 78: 1430-3.
    • (1997) Thromb Haemost , vol.78 , pp. 1430-1433
    • Arruda, V.R.1    Annichino-Bizzacchi, J.M.2    Goncalves, M.S.3    Costa, F.F.4
  • 30
    • 0028810738 scopus 로고
    • World distribution of factor V Leiden
    • Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995; 346: 1133-4.
    • (1995) Lancet , vol.346 , pp. 1133-1134
    • Rees, D.C.1    Cox, M.2    Clegg, J.B.3
  • 31
    • 0030476647 scopus 로고    scopus 로고
    • The population genetics of factor V Leiden (Arg506Gln)
    • Rees DC. The population genetics of factor V Leiden (Arg506Gln). Br J Haematol 1996; 95: 579-86.
    • (1996) Br J Haematol , vol.95 , pp. 579-586
    • Rees, D.C.1
  • 32
    • 0028910906 scopus 로고
    • Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men
    • Ridker PM, Hennekens CH, Lindpainter K, Stampfer MJ, Eisenberg PR, Miletich JP. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. New Engl J Med 1995; 332: 912-7.
    • (1995) New Engl J Med , vol.332 , pp. 912-917
    • Ridker, P.M.1    Hennekens, Ch.2    Lindpainter, K.3    Stampfer, M.J.4    Eisenberg, P.R.5    Miletich, J.P.6
  • 34
    • 0029090538 scopus 로고
    • APC-resistance and Mnl 1 genotype (Gln 506) of coagulation factor V are rare in Japanese population
    • Takamiya O, Ishida F, Kodaira H, Kitano K. APC-resistance and Mnl 1 genotype (Gln 506) of coagulation factor V are rare in Japanese population. Thromb Haemost 1995; 74: 996.
    • (1995) Thromb Haemost , vol.74 , pp. 996
    • Takamiya, O.1    Ishida, F.2    Kodaira, H.3    Kitano, K.4
  • 35
    • 0030133869 scopus 로고    scopus 로고
    • Very low incidence of factor Varg506→Gln in the factor V gene among the Amazonian Indians and the Brazilian black population
    • Arruda VR, Zuben PM v, Soares MCP, Menezes R, Annichino-Bizzachi JM, Costa FF. Very low incidence of factor VArg506→Gln in the factor V gene among the Amazonian Indians and the Brazilian black population. Thromb Haemost 1996; 75: 860-1.
    • (1996) Thromb Haemost , vol.75 , pp. 860-861
    • Arruda, V.R.1    Zuben, P.M.V.2    Soares, M.C.P.3    Menezes, R.4    Annichino-Bizzachi, J.M.5    Costa, F.F.6
  • 36
    • 85088672247 scopus 로고    scopus 로고
    • Detection of factor V Leiden in a nonselected black population
    • Pottinger P, Sigurdsson F, Berliner N. Detection of factor V Leiden in a nonselected black population. Blood 1996; 78: 2091.
    • (1996) Blood , vol.78 , pp. 2091
    • Pottinger, P.1    Sigurdsson, F.2    Berliner, N.3
  • 37
    • 0031202097 scopus 로고    scopus 로고
    • High frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in northern Italy
    • Sacchi E, Tagliabue L, Duca F, Mannucci PM, Blanchi A. High frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in northern Italy. Thromb Haemost 1997; 78: 963.
    • (1997) Thromb Haemost , vol.78 , pp. 963
    • Sacchi, E.1    Tagliabue, L.2    Duca, F.3    Mannucci, P.M.4    Blanchi, A.5
  • 38
    • 0030057401 scopus 로고    scopus 로고
    • Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation
    • Wilcken DE, Wang XL, Sim AS, McCredie RM. Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation. Arterioscler Thromb Vasc Biol 1996; 16: 878-82.
    • (1996) Arterioscler Thromb Vasc Biol , vol.16 , pp. 878-882
    • Wilcken, D.E.1    Wang, X.L.2    Sim, A.S.3    McCredie, R.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.