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Volumn 69, Issue 6, 2006, Pages 504-511

High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: A rapid genetic approach to cardiac arrhythmia

Author keywords

Sudden cardiac death; Syncope; Ventricular fibrillation

Indexed keywords

SODIUM CHANNEL; SODIUM CHANNEL SCN5A; UNCLASSIFIED DRUG;

EID: 33646769244     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00621.x     Document Type: Article
Times cited : (31)

References (38)
  • 1
    • 0029992905 scopus 로고    scopus 로고
    • Genomic organization of the human SCN5A gene encoding the cardiac sodium channel
    • Wang Q, Li Z, Shen J, Keating MT. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 1996: 34: 9-16.
    • (1996) Genomics , vol.34 , pp. 9-16
    • Wang, Q.1    Li, Z.2    Shen, J.3    Keating, M.T.4
  • 2
    • 0029116230 scopus 로고
    • Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia
    • Wang Q, Shen J, Li Z et al. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet 1995: 4: 1603-1607.
    • (1995) Hum Mol Genet , vol.4 , pp. 1603-1607
    • Wang, Q.1    Shen, J.2    Li, Z.3
  • 3
    • 0034609531 scopus 로고    scopus 로고
    • Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
    • Splawski I, Shen J, Timothy KW et al. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000: 102: 1178-1185.
    • (2000) Circulation , vol.102 , pp. 1178-1185
    • Splawski, I.1    Shen, J.2    Timothy, K.W.3
  • 4
    • 0029097799 scopus 로고
    • Molecular mechanism for an inherited cardiac arrhythmia
    • Bennett PB, Yazawa K, Makita N, George AL. Molecular mechanism for an inherited cardiac arrhythmia. Nature 1995: 376: 683-685.
    • (1995) Nature , vol.376 , pp. 683-685
    • Bennett, P.B.1    Yazawa, K.2    Makita, N.3    George, A.L.4
  • 5
    • 0342827876 scopus 로고    scopus 로고
    • Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome
    • Rook MB, Alshinawi CB, Groenewegen WA et al. Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc Res 1999: 44: 507-517.
    • (1999) Cardiovasc Res , vol.44 , pp. 507-517
    • Rook, M.B.1    Alshinawi, C.B.2    Groenewegen, W.A.3
  • 6
    • 0033533990 scopus 로고    scopus 로고
    • A single Na+ channel mutation causing both long-QT and Brugada syndromes
    • Bezzina C, Veldkamp MW, van den Berg MP et al. A single Na+ channel mutation causing both long-QT and Brugada syndromes. Circ Res 1999: 85: 1206-1213.
    • (1999) Circ Res , vol.85 , pp. 1206-1213
    • Bezzina, C.1    Veldkamp, M.W.2    van den Berg, M.P.3
  • 7
    • 0242317397 scopus 로고    scopus 로고
    • Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
    • Benson DW, Wang DW, Dyment M et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest 2003: 112: 1019-1028.
    • (2003) J Clin Invest , vol.112 , pp. 1019-1028
    • Benson, D.W.1    Wang, D.W.2    Dyment, M.3
  • 8
    • 0032546384 scopus 로고    scopus 로고
    • Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
    • Chen Q, Kirsch GE, Zhang D et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998: 392: 293-296.
    • (1998) Nature , vol.392 , pp. 293-296
    • Chen, Q.1    Kirsch, G.E.2    Zhang, D.3
  • 9
    • 0003096674 scopus 로고    scopus 로고
    • Cardiac conduction defects associate with mutations in SCN5A
    • Schott JJ, Alshinawi C, Kyndt F et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999: 23: 20-21.
    • (1999) Nat Genet , vol.23 , pp. 20-21
    • Schott, J.J.1    Alshinawi, C.2    Kyndt, F.3
  • 10
    • 0037154288 scopus 로고    scopus 로고
    • Clinical, genetic and biophysical characterisation of SCN5A mutations associated with atrioventricular block
    • Wang DW, Viswanathan PC, Balser JR, George AL Jr, Benson W. Clinical, genetic and biophysical characterisation of SCN5A mutations associated with atrioventricular block. Circulation 2002: 105: 341-346.
    • (2002) Circulation , vol.105 , pp. 341-346
    • Wang, D.W.1    Viswanathan, P.C.2    Balser, J.R.3    George Jr., A.L.4    Benson, W.5
  • 11
    • 5644229494 scopus 로고    scopus 로고
    • SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia
    • McNair WP, Ku L, Taylor MR et al. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation 2004: 110: 2163-2167.
    • (2004) Circulation , vol.110 , pp. 2163-2167
    • McNair, W.P.1    Ku, L.2    Taylor, M.R.3
  • 12
    • 0037428063 scopus 로고    scopus 로고
    • A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill
    • Groenewegen WA, Firouzi M, Bezzina CR et al. A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res 2003: 92 (1): 14-22.
    • (2003) Circ Res , vol.92 , Issue.1 , pp. 14-22
    • Groenewegen, W.A.1    Firouzi, M.2    Bezzina, C.R.3
  • 13
    • 26944472812 scopus 로고    scopus 로고
    • Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms
    • Makita N, Sasaki K, Groenewegen WA et al. Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms. Heart Rhythm 2005: 2 (10): 1128-1134.
    • (2005) Heart Rhythm , vol.2 , Issue.10 , pp. 1128-1134
    • Makita, N.1    Sasaki, K.2    Groenewegen, W.A.3
  • 14
    • 22144439771 scopus 로고    scopus 로고
    • Sudden unexplained death. Heritability and diagnostic yield of cardiological and genetic examination in surviving relatives
    • Tan HL, Hofman N, van Langen IM, van der Wal AC, Wilde AAM. Sudden unexplained death. Heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation 2005: 112: 207-213.
    • (2005) Circulation , vol.112 , pp. 207-213
    • Tan, H.L.1    Hofman, N.2    van Langen, I.M.3    van der Wal, A.C.4    Wilde, A.A.M.5
  • 15
    • 0035860984 scopus 로고    scopus 로고
    • Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome
    • Ackerman MJ, Siu BL, Sturner WQ et al. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 2001: 286: 2264-2269.
    • (2001) JAMA , vol.286 , pp. 2264-2269
    • Ackerman, M.J.1    Siu, B.L.2    Sturner, W.Q.3
  • 16
    • 0026530472 scopus 로고
    • Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel Proc
    • Gellens ME, George AL Jr, Chen L et al. Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc Natl Acad Sci USA 1992: 89: 554-558.
    • (1992) Natl Acad Sci USA , vol.89 , pp. 554-558
    • Gellens, M.E.1    George Jr., A.L.2    Chen, L.3
  • 17
    • 0028908741 scopus 로고
    • Assignment of the human heart tetrodotoxin-resistant voltage-gated Na(+) channel alpha-subunit gene (SCN5A) to band 3p21
    • George AL Jr, Varkony TA, Drabkin HA et al. Assignment of the human heart tetrodotoxin-resistant voltage-gated Na(+) channel alpha-subunit gene (SCN5A) to band 3p21. Cytogenet Cell Genet 1995: 68: 67-70.
    • (1995) Cytogenet Cell Genet , vol.68 , pp. 67-70
    • George Jr., A.L.1    Varkony, T.A.2    Drabkin, H.A.3
  • 18
    • 18544383162 scopus 로고    scopus 로고
    • Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia
    • Splawski I, Timothy KW, Tateyana M et al. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 2002: 297: 1333-1336.
    • (2002) Science , vol.297 , pp. 1333-1336
    • Splawski, I.1    Timothy, K.W.2    Tateyana, M.3
  • 19
    • 21344433631 scopus 로고    scopus 로고
    • Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants
    • Tan BH, Valdivia CR, Rok BA et al. Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm 2005: 2: 741-747.
    • (2005) Heart Rhythm , vol.2 , pp. 741-747
    • Tan, B.H.1    Valdivia, C.R.2    Rok, B.A.3
  • 20
    • 0037236501 scopus 로고    scopus 로고
    • Update of the guidelines on sudden cardiac death of the European society of cardiology
    • Priori SG, Aliot E, Blomstrom-Lundqvist C et al. Update of the guidelines on sudden cardiac death of the European society of cardiology. Eur Heart J 2003: 24: 13-15.
    • (2003) Eur Heart J , vol.24 , pp. 13-15
    • Priori, S.G.1    Aliot, E.2    Blomstrom-Lundqvist, C.3
  • 21
    • 4844226073 scopus 로고    scopus 로고
    • Single temperature endonuclease-enhanced single-strand conformation polymorphism/heteroduplex mutation analysis: Evaluation of the method
    • Hofman-Bang J, Christiansen M. Single temperature endonuclease-enhanced single-strand conformation polymorphism/heteroduplex mutation analysis: Evaluation of the method. Scand J Clin Lab Invest 2004: 64 (6): 605-607.
    • (2004) Scand J Clin Lab Invest , vol.64 , Issue.6 , pp. 605-607
    • Hofman-Bang, J.1    Christiansen, M.2
  • 22
    • 0035163727 scopus 로고    scopus 로고
    • Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis
    • Larsen LA, Johnson M, Brown C et al. Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis. Hum Mutat 2001: 18 (5): 451-457.
    • (2001) Hum Mutat , vol.18 , Issue.5 , pp. 451-457
    • Larsen, L.A.1    Johnson, M.2    Brown, C.3
  • 23
    • 0028329061 scopus 로고
    • Mutation detection by denaturing gradient gel electrophoresis (DGGE)
    • Fodde R, Losekoot M. Mutation detection by denaturing gradient gel electrophoresis (DGGE). Hum Mutat 1994: 3 (2): 83-94.
    • (1994) Hum Mutat , vol.3 , Issue.2 , pp. 83-94
    • Fodde, R.1    Losekoot, M.2
  • 24
    • 0029818082 scopus 로고    scopus 로고
    • Temperature-programmed capillary electrophoresis for detection of DNA point mutations
    • 930, 932
    • Gelfi C, Cremonesi L, Ferrari M, Righetti PG. Temperature-programmed capillary electrophoresis for detection of DNA point mutations. Biotechniques 1996: 21: 926 -928, 930, 932.
    • (1996) Biotechniques , vol.21 , pp. 926-928
    • Gelfi, C.1    Cremonesi, L.2    Ferrari, M.3    Righetti, P.G.4
  • 25
    • 0035863677 scopus 로고    scopus 로고
    • Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP
    • Barker DF, Denison JC, Atkin CL, Gregory MC. Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. Am J Med Genet 2001: 98: 148-160.
    • (2001) Am J Med Genet , vol.98 , pp. 148-160
    • Barker, D.F.1    Denison, J.C.2    Atkin, C.L.3    Gregory, M.C.4
  • 26
    • 0033932283 scopus 로고    scopus 로고
    • A rapid fluorescence based multiplex polymerase chain reaction -single-strand conformation polymorphism method for p53 mutation detection
    • Berggren P, Steineck G, Hemminki K. A rapid fluorescence based multiplex polymerase chain reaction -single-strand conformation polymorphism method for p53 mutation detection. Electrophoresis 2000: 21: 2335-2342.
    • (2000) Electrophoresis , vol.21 , pp. 2335-2342
    • Berggren, P.1    Steineck, G.2    Hemminki, K.3
  • 27
    • 0037344681 scopus 로고    scopus 로고
    • In-depth mutation and SNP discovery using DHPLC gene scanning
    • Lilleberg SL. In-depth mutation and SNP discovery using DHPLC gene scanning. Curr Opin Drug Discov Devel 2003: 6 (2): 237-252.
    • (2003) Curr Opin Drug Discov Devel , vol.6 , Issue.2 , pp. 237-252
    • Lilleberg, S.L.1
  • 28
    • 0037404558 scopus 로고    scopus 로고
    • Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening
    • Andersen PS, Jespersgaard C, Vuust J, Christiansen M, Larsen LA. Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening. Hum Mutat 2003: 21 (5): 455-465.
    • (2003) Hum Mutat , vol.21 , Issue.5 , pp. 455-465
    • Andersen, P.S.1    Jespersgaard, C.2    Vuust, J.3    Christiansen, M.4    Larsen, L.A.5
  • 29
    • 0035880135 scopus 로고    scopus 로고
    • Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection
    • Kozlowski P, Krzyzosiak WJ. Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection. Nucl Acids Res 2001: 29 (14): E71.
    • (2001) Nucl Acids Res , vol.29 , Issue.14
    • Kozlowski, P.1    Krzyzosiak, W.J.2
  • 30
    • 1642525984 scopus 로고    scopus 로고
    • High-throughput single nucleotide polymorphism typing by fluorescent single-strand conformation polymorphism analysis with capillary electrophoresis
    • Doi K, Doi H, Noiri E, Nakao A, Fujita T, Tokunaga K. High-throughput single nucleotide polymorphism typing by fluorescent single-strand conformation polymorphism analysis with capillary electrophoresis. Electrophoresis 2004: 25 (6): 833-838.
    • (2004) Electrophoresis , vol.25 , Issue.6 , pp. 833-838
    • Doi, K.1    Doi, H.2    Noiri, E.3    Nakao, A.4    Fujita, T.5    Tokunaga, K.6
  • 31
    • 18844414022 scopus 로고    scopus 로고
    • High throughput single-strand conformation analysis on a microfabricated capillary array electrophoresis device
    • Tian H, Emrich CA, Scherer J et al. High throughput single-strand conformation analysis on a microfabricated capillary array electrophoresis device. Electrophoresis 2005: 26: 1834-1842.
    • (2005) Electrophoresis , vol.26 , pp. 1834-1842
    • Tian, H.1    Emrich, C.A.2    Scherer, J.3
  • 32
    • 30444434576 scopus 로고    scopus 로고
    • Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies
    • Koopmann TT, Alders M, Jongbloed RJ et al. Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies. Heart Rhythm 2006: 3 (1): 52-55.
    • (2006) Heart Rhythm , vol.3 , Issue.1 , pp. 52-55
    • Koopmann, T.T.1    Alders, M.2    Jongbloed, R.J.3
  • 33
    • 25144479378 scopus 로고    scopus 로고
    • Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome
    • Fernandez L, Lapunzina P, Arjona D et al. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Clin Genet 2005: 68: 373-378.
    • (2005) Clin Genet , vol.68 , pp. 373-378
    • Fernandez, L.1    Lapunzina, P.2    Arjona, D.3
  • 34
    • 10844265341 scopus 로고    scopus 로고
    • Bilateral thoracoscopic cervical sympathectomy for the treatment of recurrent polymorphic ventricular tachycardia
    • Turley AJ, Behr E, Christiansen M, Thambyrajah J, Harcombe AA. Bilateral thoracoscopic cervical sympathectomy for the treatment of recurrent polymorphic ventricular tachycardia. Heart 2005: 91: 15-17.
    • (2005) Heart , vol.91 , pp. 15-17
    • Turley, A.J.1    Behr, E.2    Christiansen, M.3    Thambyrajah, J.4    Harcombe, A.A.5
  • 35
    • 12544257720 scopus 로고    scopus 로고
    • Guidelines on management (Diagnosis and treatment) of syncope -update 2004
    • Brignole M, Alboni P, Benditt DG et al. Guidelines on management (Diagnosis and treatment) of syncope -update 2004. Europace 2004: 6: 467-537.
    • (2004) Europace , vol.6 , pp. 467-537
    • Brignole, M.1    Alboni, P.2    Benditt, D.G.3
  • 36
    • 0037421629 scopus 로고    scopus 로고
    • A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation
    • Bin Ye, Valdivia CR, Ackerman MJ, Makielski JC. A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation. Physiol Genomics 2003: 12: 187-193.
    • (2003) Physiol Genomics , vol.12 , pp. 187-193
    • Bin, Ye.1    Valdivia, C.R.2    Ackerman, M.J.3    Makielski, J.C.4
  • 37
    • 7744243863 scopus 로고    scopus 로고
    • Spectrum and prevalence of cardiac sodium channel variants among black, white, asian, and Hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing
    • Ackerman MJ, Splawski I, Makielski JC et al. Spectrum and prevalence of cardiac sodium channel variants among black, white, asian, and Hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/ long QT syndrome genetic testing. Heart Rhythm 2004: 1: 608-609.
    • (2004) Heart Rhythm , vol.1 , pp. 608-609
    • Ackerman, M.J.1    Splawski, I.2    Makielski, J.C.3
  • 38
    • 3042802307 scopus 로고    scopus 로고
    • The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel
    • Wang Q, Chen S, Wan X et al. The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. J Med Genet 2004: 41: 66-71.
    • (2004) J Med Genet , vol.41 , pp. 66-71
    • Wang, Q.1    Chen, S.2    Wan, X.3


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