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Volumn 41, Issue 10, 2008, Pages 833-838

Simultaneous detection of the C282Y, H63D and S65C mutations in the hemochromatosis gene using quenched-FRET real-time PCR

Author keywords

Hemochromatosis; Quenched FRET; Real time PCR; Single nucleotide polymorphism

Indexed keywords

ASPARTIC ACID; CYSTEINE; HFE PROTEIN; HISTIDINE; SERINE; TYROSINE;

EID: 59849124859     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/s0100-879x2008001000001     Document Type: Article
Times cited : (12)

References (20)
  • 3
    • 0033561342 scopus 로고    scopus 로고
    • HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
    • Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 1999; 93: 2502-2505.
    • (1999) Blood , vol.93 , pp. 2502-2505
    • Mura, C.1    Raguenes, O.2    Ferec, C.3
  • 4
    • 0036107538 scopus 로고    scopus 로고
    • Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y
    • Wallace DF, Walker AP, Pietrangelo A, Clare M, Bomford AB, Dixon JL, et al. Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y. J Hepatol 2002; 36: 474-479.
    • (2002) J Hepatol , vol.36 , pp. 474-479
    • Wallace, D.F.1    Walker, A.P.2    Pietrangelo, A.3    Clare, M.4    Bomford, A.B.5    Dixon, J.L.6
  • 5
    • 0032914223 scopus 로고    scopus 로고
    • Simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations
    • Stott MK, Fellowes AP, Upton JD, Burt MJ, George PM. Simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations. Clin Chem 1999; 45: 426-428.
    • (1999) Clin Chem , vol.45 , pp. 426-428
    • Stott, M.K.1    Fellowes, A.P.2    Upton, J.D.3    Burt, M.J.4    George, P.M.5
  • 6
    • 0036204642 scopus 로고    scopus 로고
    • Genotyping of hemochromatosis-associated mutations in the HFE gene by PCR-RFLP and a novel reverse hybridization method
    • Koeken A, Cobbaert C, Quint W, van Doorn LJ. Genotyping of hemochromatosis-associated mutations in the HFE gene by PCR-RFLP and a novel reverse hybridization method. Clin Chem Lab Med 2002; 40: 122-125.
    • (2002) Clin Chem Lab Med , vol.40 , pp. 122-125
    • Koeken, A.1    Cobbaert, C.2    Quint, W.3    van Doorn, L.J.4
  • 7
    • 0035138103 scopus 로고    scopus 로고
    • An improved real time PCR method for simultaneous detection of C282Y and H63D mutations in the HFE gene associated with hereditary hemochromatosis
    • Walburger DK, Afonina IA, Wydro R. An improved real time PCR method for simultaneous detection of C282Y and H63D mutations in the HFE gene associated with hereditary hemochromatosis. Mutat Res 2001; 432: 69-78.
    • (2001) Mutat Res , vol.432 , pp. 69-78
    • Walburger, D.K.1    Afonina, I.A.2    Wydro, R.3
  • 8
    • 0031695438 scopus 로고    scopus 로고
    • Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes
    • Bernard PS, Ajioka RS, Kushner JP, Wittwer CT. Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes. Am J Pathol 1998; 153: 1055-1061.
    • (1998) Am J Pathol , vol.153 , pp. 1055-1061
    • Bernard, P.S.1    Ajioka, R.S.2    Kushner, J.P.3    Wittwer, C.T.4
  • 9
    • 0032712283 scopus 로고    scopus 로고
    • LightCycler PCR assay for simultaneous detection of the H63D and S65C mutations in the HFE hemochromatosis gene based on opposite melting temperature shifts
    • Bollhalder M, Mura C, Landt O, Maly FE. LightCycler PCR assay for simultaneous detection of the H63D and S65C mutations in the HFE hemochromatosis gene based on opposite melting temperature shifts. Clin Chem 1999; 45: 2275-2278.
    • (1999) Clin Chem , vol.45 , pp. 2275-2278
    • Bollhalder, M.1    Mura, C.2    Landt, O.3    Maly, F.E.4
  • 10
    • 0033973823 scopus 로고    scopus 로고
    • Use of two reporter dyes without interference in a single-tube rapid-cycle PCR: Alpha(1)-antitrypsin genotyping by multiplex real-time fluorescence PCR with the LightCycler
    • von Ahsen N, Oellerich M, Schutz E. Use of two reporter dyes without interference in a single-tube rapid-cycle PCR: alpha(1)-antitrypsin genotyping by multiplex real-time fluorescence PCR with the LightCycler. Clin Chem 2000; 46: 156-161.
    • (2000) Clin Chem , vol.46 , pp. 156-161
    • von Ahsen, N.1    Oellerich, M.2    Schutz, E.3
  • 11
    • 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: 421-424.
    • (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
  • 13
    • 0032858222 scopus 로고    scopus 로고
    • Rapid genotyping of hemochromatosis gene mutations on the LightCycler with fluorescent hybridization probes
    • Mangasser-Stephan K, Tag C, Reiser A, Gressner AM. Rapid genotyping of hemochromatosis gene mutations on the LightCycler with fluorescent hybridization probes. Clin Chem 1999; 45: 1875-1878.
    • (1999) Clin Chem , vol.45 , pp. 1875-1878
    • Mangasser-Stephan, K.1    Tag, C.2    Reiser, A.3    Gressner, A.M.4
  • 16
    • 0035055488 scopus 로고    scopus 로고
    • Hemochromatosis gene variants in three different ethnic populations: Effects of admixture for screening programs
    • Pereira AC, Mota GF, Krieger JE. Hemochromatosis gene variants in three different ethnic populations: effects of admixture for screening programs. Hum Biol 2001; 73: 145-151.
    • (2001) Hum Biol , vol.73 , pp. 145-151
    • Pereira, A.C.1    Mota, G.F.2    Krieger, J.E.3
  • 18
    • 0030827084 scopus 로고    scopus 로고
    • The significance of the 187G (H63D) mutation in hemochromatosis
    • Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet 1997; 61: 762-764.
    • (1997) Am J Hum Genet , vol.61 , pp. 762-764
    • Beutler, E.1
  • 19
    • 2542560427 scopus 로고    scopus 로고
    • Hereditary hemochromatosis - a new look at an old disease
    • Pietrangelo A. Hereditary hemochromatosis - a new look at an old disease. N Engl J Med 2004; 350: 2383-2397.
    • (2004) N Engl J Med , vol.350 , pp. 2383-2397
    • Pietrangelo, A.1
  • 20
    • 34548308666 scopus 로고    scopus 로고
    • Presence of the hemochromatosis S65C mutation leads to failure of amplification in a multiplex C282Y/H63D PCR
    • Koeken A, de Baar E, Schrauwen L, Cobbaert C. Presence of the hemochromatosis S65C mutation leads to failure of amplification in a multiplex C282Y/H63D PCR. Clin Chem 2007; 53: 1715.
    • (2007) Clin Chem , vol.53 , pp. 1715
    • Koeken, A.1    de Baar, E.2    Schrauwen, L.3    Cobbaert, C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.