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Volumn 44, Issue 2, 1998, Pages 264-269

Simultaneous determination of methylenetetrahydrofolate reductase C677T and factor V G1691A genotypes by mutagenically separated PCR and multiple- injection capillary electrophoresis

Author keywords

[No Author keywords available]

Indexed keywords

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

EID: 0031887594     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/44.2.264     Document Type: Article
Times cited : (45)

References (28)
  • 1
    • 0030101359 scopus 로고    scopus 로고
    • Detection of the factor V Leiden mutation using whole blood PCR
    • Rees DC, Cox M, Clegg JB. Detection of the factor V Leiden mutation using whole blood PCR. Thromb Haemost 1996;75: 520-1.
    • (1996) Thromb Haemost , vol.75 , pp. 520-521
    • Rees, D.C.1    Cox, M.2    Clegg, J.B.3
  • 2
    • 0028959158 scopus 로고
    • Inherited thrombophilia to activated protein C as a pathogenic factor of venous thromboembolism
    • Dahlbäck B. Inherited thrombophilia to activated protein C as a pathogenic factor of venous thromboembolism. Blood 1995;85: 607-14.
    • (1995) Blood , vol.85 , pp. 607-614
    • Dahlbäck, B.1
  • 3
    • 0028931717 scopus 로고
    • High risk of thrombosis in patients homozygous for factor V Leiden
    • Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden. Blood 1995;85:1504-8.
    • (1995) Blood , vol.85 , pp. 1504-1508
    • Rosendaal, F.R.1    Koster, T.2    Vandenbroucke, J.P.3    Reitsma, P.H.4
  • 4
    • 0030984288 scopus 로고    scopus 로고
    • Factor V Leiden (resistance to activated protein C) increases the risk of myocardial infarction in young women
    • Rosendaal FR, Siscovick DS, Schwartz SM, Beverly RK, Psaty BM, Longstreth WT, et al. Factor V Leiden (resistance to activated protein C) increases the risk of myocardial infarction in young women. Blood 1997;89:2817-21.
    • (1997) Blood , vol.89 , pp. 2817-2821
    • Rosendaal, F.R.1    Siscovick, D.S.2    Schwartz, S.M.3    Beverly, R.K.4    Psaty, B.M.5    Longstreth, W.T.6
  • 5
    • 0029049553 scopus 로고
    • Identification of a candidate genetic risk factor for vascular disease: A common mutation at the methylenetetrahydrofolate reductase locus
    • Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. Identification of a candidate genetic risk factor for vascular disease: a common mutation at the methylenetetrahydrofolate reductase locus. Nature Genet 1995;10:111-3.
    • (1995) Nature 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
  • 6
    • 0029931750 scopus 로고    scopus 로고
    • Molecular genetic aspects of hyperhomocysteinemia and its relation to folic acid
    • Rozen R. Molecular genetic aspects of hyperhomocysteinemia and its relation to folic acid. Clin Invest Med 1996;19:171-8.
    • (1996) Clin Invest Med , vol.19 , pp. 171-178
    • Rozen, R.1
  • 7
    • 0029974036 scopus 로고    scopus 로고
    • Determinants and vitamin responsiveness of intermediate hyperhomocysteinemia (≥40 μmol/liter). The Hordaland homocysteine study
    • Guttormsen AB, Ueland PM, Nesthus I, Nygård O, Schneede J, Vollset SE, Refsum H. Determinants and vitamin responsiveness of intermediate hyperhomocysteinemia (≥40 μmol/liter). The Hordaland homocysteine study. J Clin Invest 1996;98:2174-83.
    • (1996) J Clin Invest , vol.98 , pp. 2174-2183
    • Guttormsen, A.B.1    Ueland, P.M.2    Nesthus, I.3    Nygård, O.4    Schneede, J.5    Vollset, S.E.6    Refsum, H.7
  • 9
    • 0029827313 scopus 로고    scopus 로고
    • Homocysteine and risk of premature coronary heart disease: Evidence for a common gene mutation
    • Gallagher PM, Meleady R, Shields DC, Tan KS, McMaster D, Rozen R, et al. Homocysteine and risk of premature coronary heart disease: evidence for a common gene mutation. Circulation 1996;94:2154-8.
    • (1996) Circulation , vol.94 , pp. 2154-2158
    • Gallagher, P.M.1    Meleady, R.2    Shields, D.C.3    Tan, K.S.4    McMaster, D.5    Rozen, R.6
  • 10
    • 0030006275 scopus 로고    scopus 로고
    • Molecular variant of 5,10-methylenetetrahydrofolate reductase risk factor of ischemic heart disease in the Japanese population
    • Izumi M, Iwai N, Ohmichi N, Nakamura Y, Shimoike H, Kinoshita M. Molecular variant of 5,10-methylenetetrahydrofolate reductase risk factor of ischemic heart disease in the Japanese population. Atherosclerosis 1996;121:293-4.
    • (1996) Atherosclerosis , vol.121 , pp. 293-294
    • Izumi, M.1    Iwai, N.2    Ohmichi, N.3    Nakamura, Y.4    Shimoike, H.5    Kinoshita, M.6
  • 11
    • 0029655724 scopus 로고    scopus 로고
    • Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease
    • Kluijtmans LAJ, van den Heuvel LPWJ, Boers GHJ, Frosst P, van Oost BA, den Heijer M, et al. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996;58:35-41.
    • (1996) Am J Hum Genet , vol.58 , pp. 35-41
    • Kluijtmans, L.A.J.1    Van Den Heuvel, L.P.W.J.2    Boers, G.H.J.3    Frosst, P.4    Van Oost, B.A.5    Den Heijer, M.6
  • 12
    • 0030897112 scopus 로고    scopus 로고
    • Genetic polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease
    • Morita H, Taguchi J, Kurihara H, Kitaoka M, Kaneda H, Kurihara Y, et al. Genetic polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease. Circulation 1997;95:2032-6.
    • (1997) Circulation , vol.95 , pp. 2032-2036
    • Morita, H.1    Taguchi, J.2    Kurihara, H.3    Kitaoka, M.4    Kaneda, H.5    Kurihara, Y.6
  • 14
    • 0029933176 scopus 로고    scopus 로고
    • Coexistence of hereditary homocystinuria and factor V Leiden: Effect on thrombosis
    • Mandel H, Brenner B, Berant M, Rosenberg N, Lanir N, Jakobs C, et al. Coexistence of hereditary homocystinuria and factor V Leiden: effect on thrombosis. N Engl J Med 1996;334:763-8.
    • (1996) N Engl J Med , vol.334 , pp. 763-768
    • Mandel, H.1    Brenner, B.2    Berant, M.3    Rosenberg, N.4    Lanir, N.5    Jakobs, C.6
  • 15
    • 0030220109 scopus 로고    scopus 로고
    • Pulmonary embolism and premature labor in a patient with both factor V Leiden mutation and methylenetetrahydrofolate reductase gene C677T mutation
    • Peng FY, Triplett D, Barna L, Morrical D. Pulmonary embolism and premature labor in a patient with both factor V Leiden mutation and methylenetetrahydrofolate reductase gene C677T mutation. Thromb Res 1996;83:243-51.
    • (1996) Thromb Res , vol.83 , pp. 243-251
    • Peng, F.Y.1    Triplett, D.2    Barna, L.3    Morrical, D.4
  • 18
    • 0028820610 scopus 로고
    • Alternative PCR method for diagnosis of mutation causing activated protein C resistant Gln-506-factor V
    • Greengard JS, Xu X, Gandrille S, Griffin JH. Alternative PCR method for diagnosis of mutation causing activated protein C resistant Gln-506-factor V. Thromb Res 1995;80:441-3.
    • (1995) Thromb Res , vol.80 , pp. 441-443
    • Greengard, J.S.1    Xu, X.2    Gandrille, S.3    Griffin, J.H.4
  • 19
    • 0029153954 scopus 로고
    • The polymerase chain reaction with sequence specific primers for the detection of 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 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
  • 21
    • 0030199303 scopus 로고    scopus 로고
    • Oligonucleotide ligation assay for detection of the factor V mutation (Arg506-Gln) causing protein C resistance
    • Benson JM, Phillips DJ, Holloway BP, Evatt BL, Hooper WC. Oligonucleotide ligation assay for detection of the factor V mutation (Arg506-Gln) causing protein C resistance. Thromb Res 1996;83:87-96.
    • (1996) Thromb Res , vol.83 , pp. 87-96
    • Benson, J.M.1    Phillips, D.J.2    Holloway, B.P.3    Evatt, B.L.4    Hooper, W.C.5
  • 22
    • 0027259126 scopus 로고
    • Mutagenically separated PCR (MS-PCR): A highly specific one step procedure for easy mutation detection
    • Rust S, Funke H, Assmann G. Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection. Nucleic Acids Res 1993;21:3623-9.
    • (1993) Nucleic Acids Res , vol.21 , pp. 3623-3629
    • Rust, S.1    Funke, H.2    Assmann, G.3
  • 23
    • 0030015046 scopus 로고    scopus 로고
    • Capillary electrophoresis
    • St. Claire RL. Capillary electrophoresis. Anal Chem 1996;68: R569-86.
    • (1996) Anal Chem , vol.68
    • St. Claire, R.L.1
  • 24
    • 0031031657 scopus 로고    scopus 로고
    • C677T mutation of the methylenetetrahydrofolate reductase gene determined in human blood or plasma by multiple-injection capillary electrophoresis and laser-induced fluorescence detection
    • Ulvik A, Refsum H, Kluijtmans LAJ, Ueland PM. C677T mutation of the methylenetetrahydrofolate reductase gene determined in human blood or plasma by multiple-injection capillary electrophoresis and laser-induced fluorescence detection. Clin Chem 1997; 43:267-72.
    • (1997) Clin Chem , vol.43 , pp. 267-272
    • Ulvik, A.1    Refsum, H.2    Kluijtmans, L.A.J.3    Ueland, P.M.4
  • 25
    • 46549101119 scopus 로고
    • High-performance electrophoresis. Elimination of electroendosmosis and solute adsorption
    • Hjertén S. High-performance electrophoresis. Elimination of electroendosmosis and solute adsorption. J Chromatogr 1985;347: 191-8.
    • (1985) J Chromatogr , vol.347 , pp. 191-198
    • Hjertén, S.1
  • 26
    • 0010499914 scopus 로고
    • DNA polymerase fidelity: Misinsertions and mismatched extensions
    • Innis MA, ed. San Diego: Academic Press
    • Goodman MF. DNA polymerase fidelity: misinsertions and mismatched extensions. In: Innis MA, ed. PCR strategies. San Diego: Academic Press, 1995:17-31.
    • (1995) PCR Strategies , pp. 17-31
    • Goodman, M.F.1
  • 28
    • 0029878085 scopus 로고    scopus 로고
    • Elevated levels of prothrombin activation fragment 1 and 2 in plasma from patients with heterozygous Arg-506 to Gin mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency
    • Zoller B, Holm J, Svensson P, Dahlbäck B. Elevated levels of prothrombin activation fragment 1 and 2 in plasma from patients with heterozygous Arg-506 to GIn mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency. Thromb Haemost 1996;75:270-4.
    • (1996) Thromb Haemost , vol.75 , pp. 270-274
    • Zoller, B.1    Holm, J.2    Svensson, P.3    Dahlbäck, B.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.