메뉴 건너뛰기




Volumn 14, Issue 8, 2013, Pages 913-922

High-resolution melt analysis to detect sequence variations in highly homologous gene regions: Application to CYP2B6

Author keywords

CYP2B6; CYP2B7; genotyping; high resolution melt analysis; HRM; SNPs

Indexed keywords

CYTOCHROME P450 2B6; GENOMIC DNA;

EID: 84878869497     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.13.66     Document Type: Article
Times cited : (14)

References (41)
  • 1
    • 66349090454 scopus 로고    scopus 로고
    • High-resolution melting analysis (HRMA): More than just sequence variant screening
    • Vossen RH, Aten E, Roos A, Den Dunnen JT. High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum. Mutat. 30(6), 860-866 (2009).
    • (2009) Hum. Mutat. , vol.30 , Issue.6 , pp. 860-866
    • Vossen, R.H.1    Aten, E.2    Roos, A.3    Den Dunnen, J.T.4
  • 2
    • 84867493781 scopus 로고    scopus 로고
    • Microbiological applications of high-resolution melting analysis
    • Tong SY, Giffard PM. Microbiological applications of high-resolution melting analysis. J. Clin. Microbiol. 50(11), 3418-3421 (2012).
    • (2012) J. Clin. Microbiol. , vol.50 , Issue.11 , pp. 3418-3421
    • Tong, S.Y.1    Giffard, P.M.2
  • 3
    • 84866671353 scopus 로고    scopus 로고
    • Real-time RT-PCR high resolution melting curve analysis and multiplex RT-PCR to detect and differentiate grapevine leafroll-associated associated virus 3 variant groups I, II, III and VI
    • Bester R, Jooste AE, Maree HJ, Burger JT. Real-time RT-PCR high resolution melting curve analysis and multiplex RT-PCR to detect and differentiate grapevine leafroll-associated associated virus 3 variant groups I, II, III and VI. Virol. J. 9(1), 219 (2012).
    • (2012) Virol. J. , vol.9 , Issue.1 , pp. 219
    • Bester, R.1    Jooste, A.E.2    Maree, H.J.3    Burger, J.T.4
  • 4
    • 84865176080 scopus 로고    scopus 로고
    • Comparison of a high-resolution melting assay to next-generation sequencing for analysis of HIV diversity
    • Cousins MM, Ou SS, Wawer MJ et al. Comparison of a high-resolution melting assay to next-generation sequencing for analysis of HIV diversity. J. Clin. Microbiol. 50(9), 3054-3059 (2012).
    • (2012) J. Clin. Microbiol. , vol.50 , Issue.9 , pp. 3054-3059
    • Cousins, M.M.1    Ou, S.S.2    Wawer, M.J.3
  • 5
    • 66349132761 scopus 로고    scopus 로고
    • Assessing high-resolution melt curve analysis for accurate detection of gene variants in complex DNA fragments
    • Tindall EA, Petersen DC, Woodbridge P, Schipany K, Hayes VM. Assessing high-resolution melt curve analysis for accurate detection of gene variants in complex DNA fragments. Hum. Mutat. 30(6), 876-883 (2009).
    • (2009) Hum. Mutat. , vol.30 , Issue.6 , pp. 876-883
    • Tindall, E.A.1    Petersen, D.C.2    Woodbridge, P.3    Schipany, K.4    Hayes, V.M.5
  • 6
    • 66349135609 scopus 로고    scopus 로고
    • Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling
    • Dobrowolski SF, Gray J, Miller T, Sears M. Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling. Hum. Mutat. 30(6), 891-898 (2009).
    • (2009) Hum. Mutat. , vol.30 , Issue.6 , pp. 891-898
    • Dobrowolski, S.F.1    Gray, J.2    Miller, T.3    Sears, M.4
  • 7
    • 84864280980 scopus 로고    scopus 로고
    • Rapid discrimination of MHC class i and killer cell lectin-like receptor allele variants by high-resolution melt analysis
    • Lundgren A, Kim S, Stadnisky MD, Brown MG. Rapid discrimination of MHC class I and killer cell lectin-like receptor allele variants by high-resolution melt analysis. Immunogenetics 64(8), 633-640 (2012).
    • (2012) Immunogenetics , vol.64 , Issue.8 , pp. 633-640
    • Lundgren, A.1    Kim, S.2    Stadnisky, M.D.3    Brown, M.G.4
  • 8
    • 84867309410 scopus 로고    scopus 로고
    • High-resolution melting: Applications in genetic disorders
    • Er TK, Chang JG. High-resolution melting: applications in genetic disorders. Clin. Chim. Acta 414C, 197-201 (2012).
    • (2012) Clin. Chim. Acta , vol.414 C , pp. 197-201
    • Er, T.K.1    Chang, J.G.2
  • 9
    • 66349115872 scopus 로고    scopus 로고
    • Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner(tm)
    • van der Stoep N, van Paridon CDM, Janssens T et al. Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner(tm). Hum. Mutat. 30(6), 899-909 (2009).
    • (2009) Hum. Mutat. , vol.30 , Issue.6 , pp. 899-909
    • Van Der Stoep, N.1    Van Paridon Cdm2    Janssens, T.3
  • 10
    • 79251551396 scopus 로고    scopus 로고
    • Detection of somatic mutations by high-resolution DNA melting (HRM) analysis in multiple cancers
    • Gonzalez-Bosquet J, Calcei J, Wei JS et al. Detection of somatic mutations by high-resolution DNA melting (HRM) analysis in multiple cancers. PLoS ONE 6(1), e14522 (2011).
    • (2011) PLoS ONE , vol.6 , Issue.1
    • Gonzalez-Bosquet, J.1    Calcei, J.2    Wei, J.S.3
  • 11
    • 84876078320 scopus 로고    scopus 로고
    • Pharmacogenetics of cytochrome P450 2B6 (CYP2B6 ): Advances on polymorphisms, mechanisms, and clinical relevance
    • Zanger UM, Klein K. Pharmacogenetics of cytochrome P450 2B6 (CYP2B6 ): advances on polymorphisms, mechanisms, and clinical relevance. Front. Genet. 4, 24 (2013).
    • (2013) Front. Genet. , vol.4 , pp. 24
    • Zanger, U.M.1    Klein, K.2
  • 12
    • 34548105118 scopus 로고    scopus 로고
    • Polymorphic CYP2B6: Molecular mechanisms and emerging clinical significance
    • DOI 10.2217/14622416.8.7.743
    • Zanger UM, Klein K, Saussele T, Blievernicht J, Hofmann MH, Schwab M. Polymorphic CYP2B6: molecular mechanisms and emerging clinical significance. Pharmacogenomics 8(7), 743-759 (2007). (Pubitemid 47288975)
    • (2007) Pharmacogenomics , vol.8 , Issue.7 , pp. 743-759
    • Zanger, U.M.1    Klein, K.2    Saussele, T.3    Blievernicht, J.4    Hofmann, M.H.5    Schwab, M.6
  • 13
    • 1942531624 scopus 로고    scopus 로고
    • Pharmacogenetic determinants of interindividual variability in bupropion hydroxylation by cytochrome P450 2B6 in human liver microsomes
    • DOI 10.1097/00008571-200404000-00002
    • Hesse LM, He P, Krishnaswamy S et al. Pharmacogenetic determinants of interindividual variability in bupropion hydroxylation by cytochrome P450 2B6 in human liver microsomes. Pharmacogenetics 14(4), 225-238 (2004). (Pubitemid 38530514)
    • (2004) Pharmacogenetics , vol.14 , Issue.4 , pp. 225-238
    • Hesse, L.M.1    He, P.2    Krishnaswamy, S.3    Hao, Q.4    Hogan, K.5    Von Moltke, L.L.6    Greenblatt, D.J.7    Court, M.H.8
  • 14
    • 80052143211 scopus 로고    scopus 로고
    • Polymorphic variants of cytochrome P450 2B6 (CYP2B6.4-CYP2B6.9) exhibit altered rates of metabolism for bupropion and efavirenz: A charge-reversal mutation in the K139E variant (CYP2B6.8) impairs formation of a functional cytochrome P450-reductase complex
    • Zhang H, Sridar C, Kenaan C, Amunugama H, Ballou DP, Hollenberg PF. Polymorphic variants of cytochrome P450 2B6 (CYP2B6.4-CYP2B6.9) exhibit altered rates of metabolism for bupropion and efavirenz: a charge-reversal mutation in the K139E variant (CYP2B6.8) impairs formation of a functional cytochrome P450-reductase complex. J. Pharmacol. Exp. Ther. 338(3), 803-809 (2011).
    • (2011) J. Pharmacol. Exp. Ther. , vol.338 , Issue.3 , pp. 803-809
    • Zhang, H.1    Sridar, C.2    Kenaan, C.3    Amunugama, H.4    Ballou, D.P.5    Hollenberg, P.F.6
  • 18
    • 84864287061 scopus 로고    scopus 로고
    • Mid-dosing interval efavirenz plasma concentrations in HIV-1-infected children in Rwanda: Treatment efficacy, tolerability, adherence, and the influence of CYP2B6 polymorphisms
    • Mutwa PR, Fillekes Q, Malgaz M et al. Mid-dosing interval efavirenz plasma concentrations in HIV-1-infected children in Rwanda: treatment efficacy, tolerability, adherence, and the influence of CYP2B6 polymorphisms. J. Acquir. Immune Defic. Syndr. 60(4), 400-404 (2012).
    • (2012) J. Acquir. Immune Defic. Syndr. , vol.60 , Issue.4 , pp. 400-404
    • Mutwa, P.R.1    Fillekes, Q.2    Malgaz, M.3
  • 19
    • 84859236749 scopus 로고    scopus 로고
    • Worldwide variation in human drug-metabolism enzyme genes CYP2B6 and UGT2B7: Implications for HIV/AIDS treatment
    • Li J, Menard V, Benish RL et al. Worldwide variation in human drug-metabolism enzyme genes CYP2B6 and UGT2B7: implications for HIV/AIDS treatment. Pharmacogenomics 13(5), 555-570 (2012).
    • (2012) Pharmacogenomics , vol.13 , Issue.5 , pp. 555-570
    • Li, J.1    Menard, V.2    Benish, R.L.3
  • 20
    • 80055078449 scopus 로고    scopus 로고
    • Individual differences in pharmacokinetics and pharmacodynamics of anesthetic agent propofol with regard to CYP2B6 and UGT1A9 genotype and patient age
    • Kansaku F, Kumai T, Sasaki K et al. Individual differences in pharmacokinetics and pharmacodynamics of anesthetic agent propofol with regard to CYP2B6 and UGT1A9 genotype and patient age. Drug Metab. Pharmacokinet. 26(5), 532-537 (2011).
    • (2011) Drug Metab. Pharmacokinet. , vol.26 , Issue.5 , pp. 532-537
    • Kansaku, F.1    Kumai, T.2    Sasaki, K.3
  • 21
    • 34447343580 scopus 로고    scopus 로고
    • Involvement of human cytochrome P450 2B6 in the ω- and 4-hydroxylation of the anesthetic agent propofol
    • DOI 10.1080/00498250701449431, PII 780496232
    • Murayama N, Minoshima M, Shimizu M, Guengerich FP, Yamazaki H. Involvement of human cytochrome P450 2B6 in the w-and 4-hydroxylation of the anesthetic agent propofol. Xenobiotica 37(7), 717-724 (2007). (Pubitemid 47057122)
    • (2007) Xenobiotica , vol.37 , Issue.7 , pp. 717-724
    • Murayama, N.1    Minoshima, M.2    Shimizu, M.3    Guengerich, F.P.4    Yamazaki, H.5
  • 22
    • 84873096248 scopus 로고    scopus 로고
    • Contribution of CYP2B6 alleles in explaining extreme (S)-methadone plasma levels: A CYP2B6 gene resequencing study
    • Dobrinas M, Crettol S, Oneda B et al. Contribution of CYP2B6 alleles in explaining extreme (S)-methadone plasma levels: a CYP2B6 gene resequencing study. Pharmacogenet. Genomics 23(2), 84-93 (2013).
    • (2013) Pharmacogenet. Genomics , vol.23 , Issue.2 , pp. 84-93
    • Dobrinas, M.1    Crettol, S.2    Oneda, B.3
  • 23
    • 44449142319 scopus 로고    scopus 로고
    • Influence of polymorphisms of drug metabolizing enzymes (CYP2B6, CYP2C9, CYP2C19, CYP3A4, CYP3A5, GSTA1, GSTP1, ALDH1A1 and ALDH3A1) on the pharmacokinetics of cyclophosphamide and 4-hydroxycyclophosphamide
    • DOI 10.1097/FPC.0b013e3282fc9766, PII 0121301120080600000008
    • Ekhart C, Doodeman VD, Rodenhuis S, Smits PH, Beijnen JH, Huitema AD. Influence of polymorphisms of drug metabolizing enzymes (CYP2B6, CYP2C9, CYP2C19, CYP3A4, CYP3A5, GSTA1, GSTP1, ALDH1A1 and ALDH3A1) on the pharmacokinetics of cyclophosphamide and 4-hydroxycyclophosphamide. Pharmacogenet. Genomics 18(6), 515-523 (2008). (Pubitemid 351769919)
    • (2008) Pharmacogenetics and Genomics , vol.18 , Issue.6 , pp. 515-523
    • Ekhart, C.1    Doodeman, V.D.2    Rodenhuis, S.3    Smits, P.H.M.4    Beijnen, J.H.5    Huitema, A.D.R.6
  • 25
    • 78349270233 scopus 로고    scopus 로고
    • The combined impact of CYP2C19 and CYP2B6 pharmacogenetics on cyclophosphamide bioactivation
    • Helsby NA, Hui CY, Goldthorpe MA et al. The combined impact of CYP2C19 and CYP2B6 pharmacogenetics on cyclophosphamide bioactivation. Br. J. Clin. Pharmacol. 70(6), 844-853 (2010).
    • (2010) Br. J. Clin. Pharmacol. , vol.70 , Issue.6 , pp. 844-853
    • Helsby, N.A.1    Hui, C.Y.2    Goldthorpe, M.A.3
  • 26
    • 52449133102 scopus 로고    scopus 로고
    • CYP2B6: New insights into a historically overlooked cytochrome P450 isozyme
    • Wang H, Tompkins LM. CYP2B6: new insights into a historically overlooked cytochrome P450 isozyme. Curr. Drug Metab. 9(7), 598-610 (2008).
    • (2008) Curr. Drug Metab. , vol.9 , Issue.7 , pp. 598-610
    • Wang, H.1    Tompkins, L.M.2
  • 27
    • 72949119743 scopus 로고    scopus 로고
    • Substrate specificity, regulation, and polymorphism of human cytochrome P450 2B6
    • Mo SL, Liu YH, Duan W, Wei MQ, Kanwar JR, Zhou SF. Substrate specificity, regulation, and polymorphism of human cytochrome P450 2B6. Curr. Drug Metab. 10(7), 730-753 (2009).
    • (2009) Curr. Drug Metab. , vol.10 , Issue.7 , pp. 730-753
    • Mo, S.L.1    Liu, Y.H.2    Duan, W.3    Wei, M.Q.4    Kanwar, J.R.5    Zhou, S.F.6
  • 29
    • 79953066957 scopus 로고    scopus 로고
    • The importance of correct assignment of CYP2B6 genetic variants with respect to cyclophosphamide metabolizer status
    • author reply 384
    • Helsby N, Tingle M. The importance of correct assignment of CYP2B6 genetic variants with respect to cyclophosphamide metabolizer status. Am. J. Hematol. 86(4), 383-384; author reply 384 (2011).
    • (2011) Am. J. Hematol. , vol.86 , Issue.4 , pp. 383-384
    • Helsby, N.1    Tingle, M.2
  • 31
    • 3242798958 scopus 로고    scopus 로고
    • Identification of CYP2B6 sequence variants by use of multiplex PCR with allele-specific genotyping
    • DOI 10.1373/clinchem.2004.031708
    • Jacob RM, Johnstone EC, Neville MJ, Walton RT. Identification of CYP2B6 sequence variants by use of multiplex PCR with allele-specific genotyping. Clin. Chem. 50(8), 1372-1377 (2004). (Pubitemid 38970644)
    • (2004) Clinical Chemistry , vol.50 , Issue.8 , pp. 1372-1377
    • Jacob, R.M.1    Johnstone, E.C.2    Neville, M.J.3    Walton, R.T.4
  • 32
    • 33846024396 scopus 로고    scopus 로고
    • MALDI-TOF mass spectrometry for multiplex genotyping of CYP2B6 single-nucleotide polymorphisms
    • DOI 10.1373/clinchem.2006.074856
    • Blievernicht JK, Schaeffeler E, Klein K, Eichelbaum M, Schwab M, Zanger UM. MALDI-TOF mass spectrometry for multiplex genotyping of CYP2B6 single-nucleotide polymorphisms. Clin. Chem. 53(1), 24-33 (2007). (Pubitemid 46047760)
    • (2007) Clinical Chemistry , vol.53 , Issue.1 , pp. 24-33
    • Blievernicht, J.K.1    Schaeffeler, E.2    Klein, K.3    Eichelbaum, M.4    Schwab, M.5    Zanger, U.M.6
  • 33
    • 83555173440 scopus 로고    scopus 로고
    • Correlation of CYP2B6, CYP2C19, ABCC4 and SOD2 genotype with outcomes in allogeneic blood and marrow transplant patients
    • Black JL, Litzow MR, Hogan WJ et al. Correlation of CYP2B6, CYP2C19, ABCC4 and SOD2 genotype with outcomes in allogeneic blood and marrow transplant patients. Leukemia Res. 36(1), 59-66 (2012).
    • (2012) Leukemia Res. , vol.36 , Issue.1 , pp. 59-66
    • Black, J.L.1    Litzow, M.R.2    Hogan, W.J.3
  • 34
    • 0242691208 scopus 로고    scopus 로고
    • A comparison of bayesian methods for haplotype reconstruction from population genotype data
    • DOI 10.1086/379378
    • Stephens M, Donnelly P. A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am. J. Hum. Genet. 73(5), 1162-1169 (2003). (Pubitemid 37414228)
    • (2003) American Journal of Human Genetics , vol.73 , Issue.5 , pp. 1162-1169
    • Stephens, M.1    Donnelly, P.2
  • 35
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • DOI 10.1086/319501
    • Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet. 68, 978-989 (2001). (Pubitemid 32289743)
    • (2001) American Journal of Human Genetics , vol.68 , Issue.4 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3
  • 36
    • 82955233687 scopus 로고    scopus 로고
    • Rapid identification of CYP2C8 polymorphisms by high resolution melting analysis
    • Chang CC, Lin PC, Lin CH, Yeh KT, Hung HY, Chang JG. Rapid identification of CYP2C8 polymorphisms by high resolution melting analysis. Clin. Chim. Acta 413(1-2), 298-302 (2012).
    • (2012) Clin. Chim. Acta , vol.413 , Issue.1-2 , pp. 298-302
    • Chang, C.C.1    Lin, P.C.2    Lin, C.H.3    Yeh, K.T.4    Hung, H.Y.5    Chang, J.G.6
  • 37
    • 79955483490 scopus 로고    scopus 로고
    • High-resolution melting curve analysis to establish CYP2C19 2 single nucleotide polymorphism: Comparison with hydrolysis SNP analysis
    • Temesvari M, Paulik J, Kobori L, Monostory K. High-resolution melting curve analysis to establish CYP2C19 2 single nucleotide polymorphism: comparison with hydrolysis SNP analysis. Mol. Cell Probes 25(2-3), 130-133 (2011).
    • (2011) Mol. Cell Probes , vol.25 , Issue.2-3 , pp. 130-133
    • Temesvari, M.1    Paulik, J.2    Kobori, L.3    Monostory, K.4
  • 38
    • 84871651585 scopus 로고    scopus 로고
    • Alternative reliable method for cytochrome P450 2D6 poor metabolizers genotyping
    • Pindurova E, Zourkova A, Zrustova J, Jurica J, Pavelka A. Alternative reliable method for cytochrome P450 2D6 poor metabolizers genotyping. Mol. Biotechnol. 53(1), 29-40 (2013).
    • (2013) Mol. Biotechnol. , vol.53 , Issue.1 , pp. 29-40
    • Pindurova, E.1    Zourkova, A.2    Zrustova, J.3    Jurica, J.4    Pavelka, A.5
  • 39
    • 80051688666 scopus 로고    scopus 로고
    • High-resolution melting curve (HRM) analysis to establish CYP21A2 mutations converted from the CYP21A1P in congenital adrenal hyperplasia
    • Lin YC, Liu TC, Chang JG, Lee HH. High-resolution melting curve (HRM) analysis to establish CYP21A2 mutations converted from the CYP21A1P in congenital adrenal hyperplasia. Clin. Chim. Acta 412(21-22), 1918-1923 (2011).
    • (2011) Clin. Chim. Acta , vol.412 , Issue.21-22 , pp. 1918-1923
    • Lin, Y.C.1    Liu, T.C.2    Chang, J.G.3    Lee, H.H.4
  • 41
    • 83755207557 scopus 로고    scopus 로고
    • CYP2D6, SULT1A1 and UGT2B17 copy number variation: Quantitative detection by multiplex PCR
    • Gaedigk A, Twist GP, Leeder JS. CYP2D6, SULT1A1 and UGT2B17 copy number variation: quantitative detection by multiplex PCR. Pharmacogenomics 13(1), 91-111 (2012).
    • (2012) Pharmacogenomics , vol.13 , Issue.1 , pp. 91-111
    • Gaedigk, A.1    Twist, G.P.2    Leeder, J.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.