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Volumn 4626, Issue , 2002, Pages 298-307

Automated, high-accuracy mutation screening with the WAVE® nucleic acid fragment analysis system

Author keywords

Deletions; DHPLC; Genetic variation; Insertions; Mutation detection; SNP

Indexed keywords

ALGORITHMS; ALKYLATION; AROMATIC POLYMERS; COMPUTER SOFTWARE; DATA ACQUISITION; FLUORESCENCE; GENETIC ENGINEERING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; MELTING; ULTRAVIOLET RADIATION;

EID: 0036405465     PISSN: 0277786X     EISSN: None     Source Type: Conference Proceeding    
DOI: 10.1117/12.472095     Document Type: Conference Paper
Times cited : (4)

References (28)
  • 1
    • 0000520709 scopus 로고
    • Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC)
    • P.J. Oefner, and P.A. Underhill, "Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC)," Am. J. Hum. Genet. 57, pp. A266, 1995.
    • (1995) Am. J. Hum. Genet. , vol.57
    • Oefner, P.J.1    Underhill, P.A.2
  • 2
    • 0003391162 scopus 로고    scopus 로고
    • DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC)
    • Wiley & Sons, New York
    • P.J. Oefner, and P.A. Underhill, Current Protocols in Human Genetics, "DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC)," Supplement 19, 7.10.1-7.10.12, Wiley & Sons, New York, 1998.
    • (1998) Current Protocols in Human Genetics , Issue.SUPPL. 19 , pp. 7101-71012
    • Oefner, P.J.1    Underhill, P.A.2
  • 3
    • 0031291719 scopus 로고    scopus 로고
    • Detection of single-nucleotide polymorphisms with the WAVE™ DNA fragment analysis system
    • A. Kuklin, K. Munson, D. Gjerde, R. Haefele, and P. Taylor, "Detection of single-nucleotide polymorphisms with the WAVE™ DNA Fragment Analysis System," Genetic Testing 1, pp. 201-206, 1997/98.
    • (1997) Genetic Testing , vol.1 , pp. 201-206
    • Kuklin, A.1    Munson, K.2    Gjerde, D.3    Haefele, R.4    Taylor, P.5
  • 5
    • 0032520681 scopus 로고    scopus 로고
    • Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
    • W. Lin, D.I. Smith, K.J. Rechtzigel, S.N. Thibodeau, and C.D. James, "Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations," Nucl. Acids Res. 26, pp. 1396-1400, 1998.
    • (1998) Nucl. Acids Res. , vol.26 , pp. 1396-1400
    • Lin, W.1    Smith, D.I.2    Rechtzigel, K.J.3    Thibodeau, S.N.4    James, C.D.5
  • 7
    • 0032878113 scopus 로고    scopus 로고
    • Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis
    • A.C. Jones, J. Austin, N. Hansen, B. Hoogendoorn, P. Oefner, J.P. Cheadle, and M.C. O'Donovan, "Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis," Clin. Chem. 45, pp. 1133-1140, 1999.
    • (1999) Clin. Chem. , vol.45 , pp. 1133-1140
    • Jones, A.C.1    Austin, J.2    Hansen, N.3    Hoogendoorn, B.4    Oefner, P.5    Cheadle, J.P.6    O'Donovan, M.C.7
  • 8
    • 0033501118 scopus 로고    scopus 로고
    • Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2
    • Y.S. Choy, S.L. Dabora, F. Hall, V. Ramesh, Y. Niida, D. Franz, J. Kasprzyk-Obara, M.P. Reeve, and D.J. Kwiatkowski, "Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2," Ann. Hum. Genet. 63, pp. 383-391, 1999.
    • (1999) Ann. Hum. Genet. , vol.63 , pp. 383-391
    • Choy, Y.S.1    Dabora, S.L.2    Hall, F.3    Ramesh, V.4    Niida, Y.5    Franz, D.6    Kasprzyk-Obara, J.7    Reeve, M.P.8    Kwiatkowski, D.J.9
  • 9
    • 0032764964 scopus 로고    scopus 로고
    • A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC
    • E. Gross, N. Arnold, J. Goette, U. Schwarz-Boeger, and M. Kiechle, "A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC." Hum. Genet. 105, pp. 72-78, 1999.
    • (1999) Hum. Genet. , vol.105 , pp. 72-78
    • Gross, E.1    Arnold, N.2    Goette, J.3    Schwarz-Boeger, U.4    Kiechle, M.5
  • 11
    • 11944275017 scopus 로고
    • Rapid and accurate sizing of DNA fragments by ion-pair chromatography on alkylated nonporous poly(styrene-divinylbenzene)
    • C.G. Huber, P.J. Oefner, and G.K. Bonn, "Rapid and accurate sizing of DNA fragments by ion-pair chromatography on alkylated nonporous poly(styrene-divinylbenzene)." Analytical Chemistry 67, pp. 578-585, 1995.
    • (1995) Analytical Chemistry , vol.67 , pp. 578-585
    • Huber, C.G.1    Oefner, P.J.2    Bonn, G.K.3
  • 12
    • 0027167906 scopus 로고
    • High-resolution liquid chromatography of DNA fragments on non-porous poly(styrene-divinylbenzene) particles
    • C.G. Huber, P.J. Oefner, E. Preuss, and G.K. Bonn, "High-resolution liquid chromatography of DNA fragments on non-porous poly(styrene-divinylbenzene) particles." Nucl. Acids Res. 21, pp. 1061-1066, 1993.
    • (1993) Nucl. Acids Res. , vol.21 , pp. 1061-1066
    • Huber, C.G.1    Oefner, P.J.2    Preuss, E.3    Bonn, G.K.4
  • 13
    • 0027762696 scopus 로고
    • Rapid analysis of biopolymers on modified non-porous poly(styrene-divinylbenzene) particles
    • C.G. Huber, P.J. Oefner, and G.K. Bonn, "Rapid analysis of biopolymers on modified non-porous poly(styrene-divinylbenzene) particles." Chromatographia 37, pp. 653-658, 1993. D. Poland, "Recursion relation generation of probability profiles for specific-sequence macromolecules with long-range correlations." Biopolymers 18, pp. 1859-1871, 1974. M. Fixman and J.J. Freire, "Theory of DNA melting curves." Biopolymers 16, pp. 2693-2704, 1977.
    • (1993) Chromatographia , vol.37 , pp. 653-658
    • Huber, C.G.1    Oefner, P.J.2    Bonn, G.K.3
  • 14
    • 0016266885 scopus 로고
    • Recursion relation generation of probability profiles for specific-sequence macromolecules with long-range correlations
    • C.G. Huber, P.J. Oefner, and G.K. Bonn, "Rapid analysis of biopolymers on modified non-porous poly(styrene-divinylbenzene) particles." Chromatographia 37, pp. 653-658, 1993. D. Poland, "Recursion relation generation of probability profiles for specific-sequence macromolecules with long-range correlations." Biopolymers 18, pp. 1859-1871, 1974. M. Fixman and J.J. Freire, "Theory of DNA melting curves." Biopolymers 16, pp. 2693-2704, 1977.
    • (1974) Biopolymers , vol.18 , pp. 1859-1871
    • Poland, D.1
  • 15
    • 0017587485 scopus 로고
    • Theory of DNA melting curves
    • C.G. Huber, P.J. Oefner, and G.K. Bonn, "Rapid analysis of biopolymers on modified non-porous poly(styrene-divinylbenzene) particles." Chromatographia 37, pp. 653-658, 1993. D. Poland, "Recursion relation generation of probability profiles for specific-sequence macromolecules with long-range correlations." Biopolymers 18, pp. 1859-1871, 1974. M. Fixman and J.J. Freire, "Theory of DNA melting curves." Biopolymers 16, pp. 2693-2704, 1977.
    • (1977) Biopolymers , vol.16 , pp. 2693-2704
    • Fixman, M.1    Freire, J.J.2
  • 16
    • 0034522031 scopus 로고    scopus 로고
    • Mutation detection in the human HSP70B' gene by denaturing high-performance liquid chromatography
    • K.H. Hecker, A. Asea, K. Kobayashi, S. Green, D. Tang, and S.K. Calderwood, "Mutation detection in the human HSP70B' gene by denaturing high-performance liquid chromatography." Cell Stress & Chaperones 5(5), pp. 415-424, 2000.
    • (2000) Cell Stress & Chaperones , vol.5 , Issue.5 , pp. 415-424
    • Hecker, K.H.1    Asea, A.2    Kobayashi, K.3    Green, S.4    Tang, D.5    Calderwood, S.K.6
  • 17
    • 0035746670 scopus 로고    scopus 로고
    • Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy
    • H. Takashima, C.F. Boerkoel, and J.R. Lupski, "Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy." Genetics in Medicine 3(5), pp. 335-342, 2001.
    • (2001) Genetics in Medicine , vol.3 , Issue.5 , pp. 335-342
    • Takashima, H.1    Boerkoel, C.F.2    Lupski, J.R.3
  • 18
    • 0033737005 scopus 로고    scopus 로고
    • High-accuracy DNA sequence variation screening by DHPLC
    • J.I. Spiegelman, M.N. Mindrinos, and P.J. Oefner, "High-Accuracy DNA Sequence Variation Screening by DHPLC." Bio Techniques 29(5), pp. 1084-1092, 2000.
    • (2000) Bio Techniques , vol.29 , Issue.5 , pp. 1084-1092
    • Spiegelman, J.I.1    Mindrinos, M.N.2    Oefner, P.J.3
  • 19
    • 0033180405 scopus 로고    scopus 로고
    • Mutation detection by denaturing DNA chromatography using fluorescently labeled polymerase chain reaction products
    • K.H. Hecker, P.D. Taylor, and D.T. Gjerde, "Mutation Detection by Denaturing DNA Chromatography Using Fluorescently Labeled Polymerase Chain Reaction Products." Anal. Biochem. 272, pp. 156-164, 1999.
    • (1999) Anal. Biochem. , vol.272 , pp. 156-164
    • Hecker, K.H.1    Taylor, P.D.2    Gjerde, D.T.3
  • 20
  • 21
    • 0029838624 scopus 로고    scopus 로고
    • PCR fidelity of Pfu DNA polymerase and other thermostable DNA polymerases
    • J. Cline, J.C. Braman, and H.H. Hogrefe, "PCR fidelity of Pfu DNA polymerase and other thermostable DNA polymerases." Nucl. Acids Res. 24, pp. 3546-3551, 1996.
    • (1996) Nucl. Acids Res. , vol.24 , pp. 3546-3551
    • Cline, J.1    Braman, J.C.2    Hogrefe, H.H.3
  • 22
    • 0025764762 scopus 로고
    • Fidelity of DNA synthesis by the Thermococcus litoralis DNA polymerase - An extremely heat stable enzyme with proofreading activity
    • P. Mattila, J. Korpela, T. Tenkanen, and K. Pitkanen, "Fidelity of DNA synthesis by the Thermococcus litoralis DNA polymerase - an extremely heat stable enzyme with proofreading activity." Nucl. Acids Res. 19, pp. 49674973, 1991.
    • (1991) Nucl. Acids Res. , vol.19 , pp. 4967-4973
    • Mattila, P.1    Korpela, J.2    Tenkanen, T.3    Pitkanen, K.4
  • 24
    • 0016269656 scopus 로고
    • Studies of the biochemical basis of spontaneous mutation. II. The incorporation of a base and its analogue into DNA by wild type, mutator and antimutator polymerases
    • M.J. Bessman, N. Muzycyka, M.F. Goodman, and R.L. Schnaar, "Studies of the biochemical basis of spontaneous mutation. II. The incorporation of a base and its analogue into DNA by wild type, mutator and antimutator polymerases." J. Biol. Chem. 88, pp. 409-421, 1974.
    • (1974) J. Biol. Chem. , vol.88 , pp. 409-421
    • Bessman, M.J.1    Muzycyka, N.2    Goodman, M.F.3    Schnaar, R.L.4
  • 25
    • 0018800392 scopus 로고
    • Error induction and correction by mutant and wild type T4 DNA polymerase: Kinetic error discrimination mechanisms
    • L.K. Clayton, M.F. Goodman, E.W. Branscomb, and D.J. Galas, "Error induction and correction by mutant and wild type T4 DNA polymerase: Kinetic error discrimination mechanisms." J. Biol. Chem. 254, pp. 1902-1912, 1979.
    • (1979) J. Biol. Chem. , vol.254 , pp. 1902-1912
    • Clayton, L.K.1    Goodman, M.F.2    Branscomb, E.W.3    Galas, D.J.4
  • 26
    • 0031917762 scopus 로고    scopus 로고
    • DNA polymerase fidelity: From genetics to a biochemical understanding
    • M.F. Goodman and D.K. Fygenson, "DNA polymerase fidelity: From genetics to a biochemical understanding." Genetics 148, pp 1475-1482, 1998.
    • (1998) Genetics , vol.148 , pp. 1475-1482
    • Goodman, M.F.1    Fygenson, D.K.2
  • 27
    • 0031943693 scopus 로고    scopus 로고
    • Regulation of DNA polymerase exonucleolytic proofreading activity: Studies of T4 "antimutator" DNA polymerases
    • L. Reha-Krantz, "Regulation of DNA polymerase exonucleolytic proofreading activity: Studies of T4 "antimutator" DNA polymerases." Genetics 148, pp 1551-1557, 1998.
    • (1998) Genetics , vol.148 , pp. 1551-1557
    • Reha-Krantz, L.1
  • 28
    • 0034999807 scopus 로고    scopus 로고
    • Denaturing high-performance liquid chromatography: A review
    • W. Xiao and P.J Oefner, "Denaturing High-Performance Liquid Chromatography: A Review." Human Mutation 17, pp. 439-474, 2001.
    • (2001) Human Mutation , vol.17 , pp. 439-474
    • Xiao, W.1    Oefner, P.J.2


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