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Volumn 21, Issue 2, 2003, Pages 116-122

High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: Validation of the method

Author keywords

CAE; Capillary array electrophoresis; Capillary electrophoresis; KCNQ1; Method validation; Mutation analysis; Mutation detection; MYH7; MYL2; MYL3; Single strand conformation polymorphism; SSCP; TNNI3

Indexed keywords

GENOMIC DNA;

EID: 0037269059     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10161     Document Type: Article
Times cited : (52)

References (24)
  • 2
    • 0035890850 scopus 로고    scopus 로고
    • Prediction of DNA single-strand conformation polymorphism: Analysis by capillary electrophoresis and computerized DNA modeling
    • Atha DH, Kasprzak W, O'Connell CD, Shapiro BA. 2001. Prediction of DNA single-strand conformation polymorphism: analysis by capillary electrophoresis and computerized DNA modeling. Nucleic Acids Res 29:4643-4653.
    • (2001) Nucleic Acids Res , vol.29 , pp. 4643-4653
    • Atha, D.H.1    Kasprzak, W.2    O'Connell, C.D.3    Shapiro, B.A.4
  • 4
    • 0034003411 scopus 로고    scopus 로고
    • Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing highperformance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses
    • Dobson-Stone C, Cox RD, Lonie L, Southam L, Fraser M, Wise C, Bernier F, Hodgson S, Porter DE, Simpson AH, Monaco AP. 2000. Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing highperformance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. Eur J Hum Genet 8:24-32.
    • (2000) Eur J Hum Genet , vol.8 , pp. 24-32
    • Dobson-Stone, C.1    Cox, R.D.2    Lonie, L.3    Southam, L.4    Fraser, M.5    Wise, C.6    Bernier, F.7    Hodgson, S.8    Porter, D.E.9    Simpson, A.H.10    Monaco, A.P.11
  • 5
    • 0034078332 scopus 로고    scopus 로고
    • A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning
    • Ellis LA, Taylor CF, Taylor GR. 2000. A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning. Hum Mutat 15:556-564.
    • (2000) Hum Mutat , vol.15 , pp. 556-564
    • Ellis, L.A.1    Taylor, C.F.2    Taylor, G.R.3
  • 7
    • 0032977432 scopus 로고    scopus 로고
    • Fluorescence-based single-strand conformation polymorphism analysis of the low density lipoprotein receptor gene by capillary electrophoresis
    • Geisel J, Walz T, Bodis M, Nauck M, Oette K, Herrmann W. 1999. Fluorescence-based single-strand conformation polymorphism analysis of the low density lipoprotein receptor gene by capillary electrophoresis. J Chromatogr B Biomed Sci Appl 724:239-247.
    • (1999) J Chromatogr B Biomed Sci Appl , vol.724 , pp. 239-247
    • Geisel, J.1    Walz, T.2    Bodis, M.3    Nauck, M.4    Oette, K.5    Herrmann, W.6
  • 8
    • 0036199267 scopus 로고    scopus 로고
    • Correlation of MFOLD-predicted DNA secondary structures with separation patterns obtained by capillary electrophoresis single-strand conformation polymorphism (CE-SSCP) analysis
    • Glavac D, Potocnik U, Podpecnik D, Zizek T, Smerkolj S, Ravnik-Glavac M. 2002. Correlation of MFOLD-predicted DNA secondary structures with separation patterns obtained by capillary electrophoresis single-strand conformation polymorphism (CE-SSCP) analysis. Hum Mutat 19:384-394.
    • (2002) Hum Mutat , vol.19 , pp. 384-394
    • Glavac, D.1    Potocnik, U.2    Podpecnik, D.3    Zizek, T.4    Smerkolj, S.5    Ravnik-Glavac, M.6
  • 9
    • 0027434131 scopus 로고
    • How sensitive is PCR-SSCP?
    • Hayashi K, Yandell DW. 1993. How sensitive is PCR-SSCP? Hum Mutat 2:338-346.
    • (1993) Hum Mutat , vol.2 , pp. 338-346
    • Hayashi, K.1    Yandell, D.W.2
  • 10
    • 0031263204 scopus 로고    scopus 로고
    • A streamlined mutation detection system: Multicolor post-PCR fluorescence labeling and single-strand conformational polymorphism analysis by capillary electrophoresis
    • Inazuka M, Wenz HM, Sakabe M, Tahira T, Hayashi K. 1997. A streamlined mutation detection system: multicolor post-PCR fluorescence labeling and single-strand conformational polymorphism analysis by capillary electrophoresis. Genome Res 7:1094-1103.
    • (1997) Genome Res , vol.7 , pp. 1094-1103
    • Inazuka, M.1    Wenz, H.M.2    Sakabe, M.3    Tahira, T.4    Hayashi, K.5
  • 12
    • 0032966760 scopus 로고    scopus 로고
    • A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in 15 exons of the KVLQT1 gene, associated with long QT syndrome
    • Larsen LA, Andersen PS, Kanters JK, Jacobsen JR, Vuust J, Christiansen M. 1999a. A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in 15 exons of the KVLQT1 gene, associated with long QT syndrome. Clin Chim Acta 280:113-125.
    • (1999) Clin Chim Acta , vol.280 , pp. 113-125
    • Larsen, L.A.1    Andersen, P.S.2    Kanters, J.K.3    Jacobsen, J.R.4    Vuust, J.5    Christiansen, M.6
  • 13
    • 0032982405 scopus 로고    scopus 로고
    • High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants
    • Larsen LA, Christiansen M, Vuust J, Andersen PS. 1999b. High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. Hum Mutat 13:318-327.
    • (1999) Hum Mutat , vol.13 , pp. 318-327
    • Larsen, L.A.1    Christiansen, M.2    Vuust, J.3    Andersen, P.S.4
  • 15
    • 48849109172 scopus 로고    scopus 로고
    • Single-strand conformation polymorphism analysis using capillary electrophoresis
    • Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman C, Seidman JG, Smith CA, editors. New York: John Wiley & Sons, Inc.
    • Larsen LA, Christiansen M, Vuust J, Andersen PS. 2002. Single-strand conformation polymorphism analysis using capillary electrophoresis. In: Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman C, Seidman JG, Smith CA, editors. Current protocols in human genetics. New York: John Wiley & Sons, Inc. p 7.12.
    • (2002) Current Protocols in Human Genetics , pp. 7-12
    • Larsen, L.A.1    Christiansen, M.2    Vuust, J.3    Andersen, P.S.4
  • 17
    • 0028998526 scopus 로고
    • Positional cloning reaches maturity
    • Nelson DL. 1995. Positional cloning reaches maturity. Curr Opin Genet Dev 5:298-303.
    • (1995) Curr Opin Genet Dev , vol.5 , pp. 298-303
    • Nelson, D.L.1
  • 18
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K. 1989. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879.
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 19
    • 0033572515 scopus 로고    scopus 로고
    • Applications of short-chain polydimethylacrylamide as sieving medium for the electrophoretic separation of DNA fragments and mutation analysis in uncoated capillaries
    • Ren J, Ulvik A, Refsum H, Ueland PM. 1999. Applications of short-chain polydimethylacrylamide as sieving medium for the electrophoretic separation of DNA fragments and mutation analysis in uncoated capillaries. Anal Biochem 276:188-194.
    • (1999) Anal Biochem , vol.276 , pp. 188-194
    • Ren, J.1    Ulvik, A.2    Refsum, H.3    Ueland, P.M.4
  • 20
    • 0034640431 scopus 로고    scopus 로고
    • High-throughput single-strand conformation polymorphism analysis by capillary electrophoresis
    • Ren J. 2000. High-throughput single-strand conformation polymorphism analysis by capillary electrophoresis. J Chromatogr B Biomed Sci Appl 741:115-128.
    • (2000) J Chromatogr B Biomed Sci Appl , vol.741 , pp. 115-128
    • Ren, J.1
  • 21
    • 0034139510 scopus 로고    scopus 로고
    • The use of single nucleotide polymorphisms in the isolation of common disease genes
    • Riley JH, Allan CJ, Lai E, Roses A. 2000. The use of single nucleotide polymorphisms in the isolation of common disease genes. Pharmacogenomics 1:39-47.
    • (2000) Pharmacogenomics , vol.1 , pp. 39-47
    • Riley, J.H.1    Allan, C.J.2    Lai, E.3    Roses, A.4
  • 22
    • 0027193630 scopus 로고
    • The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
    • Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM. 1993. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 16:325-332.
    • (1993) Genomics , vol.16 , pp. 325-332
    • Sheffield, V.C.1    Beck, J.S.2    Kwitek, A.E.3    Sandstrom, D.W.4    Stone, E.M.5
  • 24
    • 0034999807 scopus 로고    scopus 로고
    • Denaturing high-performance liquid chromatography: A review
    • Xiao W, Oefner PJ. 2001. Denaturing high-performance liquid chromatography: a review. Hum Mutat 17:439-474.
    • (2001) Hum Mutat , vol.17 , pp. 439-474
    • Xiao, W.1    Oefner, P.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.