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Volumn 29, Issue 14, 2020, Pages

Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; DOUBLE STRANDED DNA; GENOMIC DNA; GLYCEROL; GUANINE; POLYMER; THYMINE; BRCA1 PROTEIN; BRCA2 PROTEIN; DNA; TRANSCRIPTION FACTOR; TUMOR PROTEIN;

EID: 0035880135     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/29.14.e71     Document Type: Article
Times cited : (59)

References (63)
  • 2
    • 0032603916 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 gene mutation analysis: visit to the Breast Cancer Information Core (BIC)
    • Shen, D. and Vadgama, J.V. (1999) BRCA1 and BRCA2 gene mutation analysis: visit to the Breast Cancer Information Core (BIC). Oncol. Res., 11, 63-69.
    • (1999) Oncol. Res , vol.11 , pp. 63-69
    • Shen, D.1    Vadgama, J.V.2
  • 3
    • 0033866487 scopus 로고    scopus 로고
    • The breast cancer information core: database design, structure and scope
    • Szabo, C., Masiello, A., Ryan, J.F. and Brody, L.C. (2000) The breast cancer information core: database design, structure and scope. Hum. Mutat., 16, 123-131.
    • (2000) Hum. Mutat , vol.16 , pp. 123-131
    • Szabo, C.1    Masiello, A.2    Ryan, J.F.3    Brody, L.C.4
  • 4
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita, M., Suzuki, Y., Sekiya, T. and 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
  • 5
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K. and Sekiya, T. (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl Acad. Sci. USA, 86, 2766-2770.
    • (1989) Proc. Natl Acad. Sci. USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 6
    • 0024713082 scopus 로고
    • A PCR artifact: generation of heteroduplexes
    • Nagamine, C.M., Chan, K. and Lau, Y.F. (1989) A PCR artifact: generation of heteroduplexes. Am. J. Hum. Genet., 45, 337-339.
    • (1989) Am. J. Hum. Genet , vol.45 , pp. 337-339
    • Nagamine, C.M.1    Chan, K.2    Lau, Y.F.3
  • 7
    • 0026007392 scopus 로고
    • Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels
    • Keen, J., Lester, D., Inglehearn, C., Curtis, A. and Bhattacharya, S. (1991) Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels. Trends Genet., 7, 5.
    • (1991) Trends Genet , vol.7 , pp. 5
    • Keen, J.1    Lester, D.2    Inglehearn, C.3    Curtis, A.4    Bhattacharya, S.5
  • 8
    • 0025944670 scopus 로고
    • Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site
    • Keen, T.J., Inglehearn, C.F., Lester, D.H., Bashir, R., Jay, M., Bird, A.C., Jay, B. and Bhattacharya, S.S. (1991) Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. Genomics, 11, 199-205.
    • (1991) Genomics , vol.11 , pp. 199-205
    • Keen, T.J.1    Inglehearn, C.F.2    Lester, D.H.3    Bashir, R.4    Jay, M.5    Bird, A.C.6    Jay, B.7    Bhattacharya, S.S.8
  • 9
    • 0026057176 scopus 로고
    • Inactivation of the retinoblastoma gene in a human lung carcinoma cell line detected by single-strand conformation polymorphism analysis of the polymerase chain reaction product of c DNA
    • Murakami, Y., Katahira, M., Makino, R., Hayashi, K., Hirohashi, S. and Sekiya, T. (1991) Inactivation of the retinoblastoma gene in a human lung carcinoma cell line detected by single-strand conformation polymorphism analysis of the polymerase chain reaction product of c DNA. Oncogene, 6, 37-42.
    • (1991) Oncogene , vol.6 , pp. 37-42
    • Murakami, Y.1    Katahira, M.2    Makino, R.3    Hayashi, K.4    Hirohashi, S.5    Sekiya, T.6
  • 10
    • 0026755548 scopus 로고
    • Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene
    • Michaud, J., Brody, L.C., Steel, G., Fontaine, G., Martin, L.S., Valle, D. and Mitchell, G. (1992) Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. Genomics, 13, 389-394.
    • (1992) Genomics , vol.13 , pp. 389-394
    • Michaud, J.1    Brody, L.C.2    Steel, G.3    Fontaine, G.4    Martin, L.S.5    Valle, D.6    Mitchell, G.7
  • 11
    • 0027982001 scopus 로고
    • Comparative sensitivity of alternative single-strand conformation polymorphism (SSCP) methods
    • 494, 496
    • Vidal-Puig, A. and Moller, D.E. (1994) Comparative sensitivity of alternative single-strand conformation polymorphism (SSCP) methods. Biotechniques, 17, 490-492, 494, 496.
    • (1994) Biotechniques , vol.17 , pp. 490-492
    • Vidal-Puig, A.1    Moller, D.E.2
  • 12
    • 0028198386 scopus 로고
    • Sensitivity of singlestrand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene
    • Ravnik-Glavac, M., Glavac, D. and Dean, M. (1994) Sensitivity of singlestrand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum. Mol. Genet., 3, 801-807.
    • (1994) Hum. Mol. Genet , vol.3 , pp. 801-807
    • Ravnik-Glavac, M.1    Glavac, D.2    Dean, M.3
  • 13
    • 0026207465 scopus 로고
    • PCR-SSCP: a simple and sensitivemethod for detection of mutations in the genomic DNA
    • Hayashi, K. (1991) PCR-SSCP: a simple and sensitivemethod for detection of mutations in the genomic DNA. PCR Methods Appl., 1, 34-38.
    • (1991) PCR Methods Appl , vol.1 , pp. 34-38
    • Hayashi, K.1
  • 14
    • 0027193630 scopus 로고
    • The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
    • Sheffield, V.C., Beck, J.S., Kwitek, A.E., Sandstrom, D.W. and Stone, E.M. (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
  • 15
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solventinduced bends in DNA heteroduplexes
    • Ganguly, A., Rock, M.J. and Prockop, D.J. (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solventinduced bends in DNA heteroduplexes. Proc. Natl Acad. Sci USA, 90, 10325-10329.
    • (1993) Proc. Natl Acad. Sci USA , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 16
    • 0026584169 scopus 로고
    • Hydrolink gels: a rapid and simple approach to the detection of DNA mutations in thromboembolic disease
    • Perry, D.J. and Carrell, R.W. (1992) Hydrolink gels: a rapid and simple approach to the detection of DNA mutations in thromboembolic disease. J. Clin. Pathol., 45, 158-160.
    • (1992) J. Clin. Pathol , vol.45 , pp. 158-160
    • Perry, D.J.1    Carrell, R.W.2
  • 17
    • 19144367118 scopus 로고    scopus 로고
    • Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis UKCCCR. Familial Ovarian Cancer Study Group
    • Gayther, S.A., Harrington, P., Russell, P., Kharkevich, G., Garkavtseva, R.F. and Ponder, B.A. (1996) Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis UKCCCR. Familial Ovarian Cancer Study Group. Am. J. Hum. Genet., 58, 451-456.
    • (1996) Am. J. Hum. Genet , vol.58 , pp. 451-456
    • Gayther, S.A.1    Harrington, P.2    Russell, P.3    Kharkevich, G.4    Garkavtseva, R.F.5    Ponder, B.A.6
  • 18
    • 14444278283 scopus 로고    scopus 로고
    • Heteroduplex analysis (HA)
    • Cotton, R.G.H. (ed), Oxford University Press, Oxford, New York, Tokyo
    • Cotton, R.G.H. (1997) Heteroduplex analysis (HA). In Cotton, R.G.H. (ed.), Mutation Detection. Oxford University Press, Oxford, New York, Tokyo, pp. 58-67.
    • (1997) Mutation Detection , pp. 58-67
    • Cotton, R.G.H.1
  • 19
    • 0031661898 scopus 로고    scopus 로고
    • High-throughput screening for the detection of unknown mutations: improved productivity using heteroduplex analysis
    • Maynard, J.H. and Upadhyaya, M. (1998) High-throughput screening for the detection of unknown mutations: improved productivity using heteroduplex analysis. Biotechniques, 25, 648-651.
    • (1998) Biotechniques , vol.25 , pp. 648-651
    • Maynard, J.H.1    Upadhyaya, M.2
  • 20
    • 0027233353 scopus 로고
    • Screening for molecular pathologies in Lesch-Nyhan syndrome
    • Boyd, M., Lanyon, W.G. and Connor, J.M. (1993) Screening for molecular pathologies in Lesch-Nyhan syndrome. Hum. Mutat., 2, 127-130.
    • (1993) Hum. Mutat , vol.2 , pp. 127-130
    • Boyd, M.1    Lanyon, W.G.2    Connor, J.M.3
  • 23
    • 0034048362 scopus 로고    scopus 로고
    • Efficient mutation detection in mismatch repair genes using a combination of single-strand conformational polymorphism and heteroduplex analysis at a controlled temperature
    • Wikman, F.P., Katballe, N., Christensen, M., Laurberg, S. and Orntoft, T.F. (2000) Efficient mutation detection in mismatch repair genes using a combination of single-strand conformational polymorphism and heteroduplex analysis at a controlled temperature. Genet. Test., 4, 15-21.
    • (2000) Genet. Test , vol.4 , pp. 15-21
    • Wikman, F.P.1    Katballe, N.2    Christensen, M.3    Laurberg, S.4    Orntoft, T.F.5
  • 24
    • 85098144464 scopus 로고    scopus 로고
    • Single strand conformation analysis (SSCA)
    • Cotton, R.G.H. (ed), Oxford University Press, Oxford, New York, Tokyo
    • Cotton, R.G.H. (1997) Single strand conformation analysis (SSCA). In Cotton, R.G.H. (ed.), Mutation Detection. Oxford University Press, Oxford, New York, Tokyo, pp. 45-58.
    • (1997) Mutation Detection , pp. 45-58
    • Cotton, R.G.H.1
  • 25
    • 0032968854 scopus 로고    scopus 로고
    • Recent enhancements in SSCP
    • Hayashi, K. (1999) Recent enhancements in SSCP. Genet. Anal., 14, 193-196.
    • (1999) Genet. Anal , vol.14 , pp. 193-196
    • Hayashi, K.1
  • 26
    • 85045499907 scopus 로고
    • F-SSCP: fluorescence-based polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis
    • Makino, R., Yazyu, H., Kishimoto, Y., Sekiya, T. and Hayashi, K. (1992) F-SSCP: fluorescence-based polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis. PCR Methods Appl., 2, 10-13.
    • (1992) PCR Methods Appl , vol.2 , pp. 10-13
    • Makino, R.1    Yazyu, H.2    Kishimoto, Y.3    Sekiya, T.4    Hayashi, K.5
  • 27
    • 0027358572 scopus 로고
    • Efficacy of fluorescencebased PCR-SSCP for detection of point mutations
    • Ellison, J., Dean, M. and Goldman, D. (1993) Efficacy of fluorescencebased PCR-SSCP for detection of point mutations. Biotechniques, 15, 684-691.
    • (1993) Biotechniques , vol.15 , pp. 684-691
    • Ellison, J.1    Dean, M.2    Goldman, D.3
  • 29
    • 0029809742 scopus 로고    scopus 로고
    • Multiple fluorescence-based PCR-SSCP analysis using internal fluorescent labeling of PCR products
    • 516-519
    • Iwahana, H., Fujimura, M., Takahashi, Y., Iwabuchi, T., Yoshimoto, K. and Itakura, M. (1996)Multiple fluorescence-based PCR-SSCP analysis using internal fluorescent labeling of PCR products. Biotechniques, 21, 510-514, 516-519.
    • (1996) Biotechniques , vol.21 , pp. 510-514
    • Iwahana, H.1    Fujimura, M.2    Takahashi, Y.3    Iwabuchi, T.4    Yoshimoto, K.5    Itakura, M.6
  • 31
    • 0030013461 scopus 로고    scopus 로고
    • One-tube post-PCR fluorescent labeling of DNA fragments
    • Inazuka, M., Tahira, T. and Hayashi, K. (1996) One-tube post-PCR fluorescent labeling of DNA fragments. Genome Res., 6, 551-557.
    • (1996) Genome Res , vol.6 , pp. 551-557
    • Inazuka, M.1    Tahira, T.2    Hayashi, K.3
  • 32
    • 0034003411 scopus 로고    scopus 로고
    • Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses
    • Dobson-Stone, C., Cox, R.D., Lonie, L., Southam, L., Fraser, M., Wise, C., Bernier, F., Hodgson, S., Porter, D.E., Simpson, A.H. and Monaco, A.P. (2000) Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance 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
  • 33
    • 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, H.M., Sakabe, M., Tahira, T. and 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
  • 34
    • 0031911874 scopus 로고    scopus 로고
    • Detection of p53 point mutations by single strand conformation polymorphism: analysis by capillary electrophoresis
    • Atha, D.H., Wenz, H.M., Morehead, H., Tian, J. and O'Connell, C.D. (1998) Detection of p53 point mutations by single strand conformation polymorphism: analysis by capillary electrophoresis. Electrophoresis, 19, 172-179.
    • (1998) Electrophoresis , vol.19 , pp. 172-179
    • Atha, D.H.1    Wenz, H.M.2    Morehead, H.3    Tian, J.4    O'Connell, C.D.5
  • 35
    • 0033007595 scopus 로고    scopus 로고
    • Temperature and pH effects on singlestrand conformation polymorphism analysis by capillary electrophoresis
    • Ren, J. and Ueland, P.M. (1999) Temperature and pH effects on singlestrand conformation polymorphism analysis by capillary electrophoresis. Hum. Mutat., 13, 458-463.
    • (1999) Hum. Mutat , vol.13 , pp. 458-463
    • Ren, J.1    Ueland, P.M.2
  • 36
    • 0032982405 scopus 로고    scopus 로고
    • Highthroughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants
    • Larsen, L.A., Christiansen, M., Vuust, J. and Andersen, P.S. (1999) Highthroughput 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
  • 37
    • 0034002175 scopus 로고    scopus 로고
    • Single-strand conformation polymorphism analysis by capillary andmicrochip electrophoresis: a fast, simplemethod for detection of common mutations in BRCA1 and BRCA2
    • Tian, H., Jaquins-Gerstl, A., Munro, N., Trucco, M., Brody, L.C. and Landers, J.P. (2000) Single-strand conformation polymorphism analysis by capillary andmicrochip electrophoresis: a fast, simplemethod for detection of common mutations in BRCA1 and BRCA2. Genomics, 63, 25-34.
    • (2000) Genomics , vol.63 , pp. 25-34
    • Tian, H.1    Jaquins-Gerstl, A.2    Munro, N.3    Trucco, M.4    Brody, L.C.5    Landers, J.P.6
  • 38
    • 0031744841 scopus 로고    scopus 로고
    • High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families
    • Ganguly, T., Dhulipala, R., Godmilow, L. and Ganguly, A. (1998) High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families. Hum. Genet., 102, 549-556.
    • (1998) Hum. Genet , vol.102 , pp. 549-556
    • Ganguly, T.1    Dhulipala, R.2    Godmilow, L.3    Ganguly, A.4
  • 39
    • 0342699488 scopus 로고    scopus 로고
    • Adaptation of conformationsensitive gel electrophoresis to an ALFexpress DNA sequencer to screen BRCA1 mutations
    • Blesa, J.R. and Hernandez-Yago, J. (2000) Adaptation of conformationsensitive gel electrophoresis to an ALFexpress DNA sequencer to screen BRCA1 mutations. Biotechniques, 28, 1019-1025.
    • (2000) Biotechniques , vol.28 , pp. 1019-1025
    • Blesa, J.R.1    Hernandez-Yago, J.2
  • 40
    • 0033794783 scopus 로고    scopus 로고
    • Rapid detection of deletion, insertion and substitutionmutations via heteroduplex analysis using capillaryand microchip-based electrophoresis
    • Tian, H., Brody, L.C. and Landers, J.P. (2000) Rapid detection of deletion, insertion and substitutionmutations via heteroduplex analysis using capillaryand microchip-based electrophoresis. Genome Res., 10, 1403-1413.
    • (2000) Genome Res , vol.10 , pp. 1403-1413
    • Tian, H.1    Brody, L.C.2    Landers, J.P.3
  • 41
    • 0034329599 scopus 로고    scopus 로고
    • Effective capillary electrophoresis-based heteroduplex analysis through optimization of surface coating and polymer networks
    • Tian, H., Brody, L.C., Mao, D. and Landers, J.P. (2000) Effective capillary electrophoresis-based heteroduplex analysis through optimization of surface coating and polymer networks. Anal. Chem., 72, 5483-5492.
    • (2000) Anal. Chem , vol.72 , pp. 5483-5492
    • Tian, H.1    Brody, L.C.2    Mao, D.3    Landers, J.P.4
  • 42
    • 0029877859 scopus 로고    scopus 로고
    • PCR-SSCP-HDX analysis of pooled DNA for more rapid detection of germline mutations in large genes. The BRCA1 example
    • Kozlowski, P., Sobczak, K., Napierala, M., Wozniak, M., Czarny, J. and Krzyzosiak, W.J. (1996) PCR-SSCP-HDX analysis of pooled DNA for more rapid detection of germline mutations in large genes. The BRCA1 example. Nucleic Acids Res., 24, 1177-1178.
    • (1996) Nucleic Acids Res , vol.24 , pp. 1177-1178
    • Kozlowski, P.1    Sobczak, K.2    Napierala, M.3    Wozniak, M.4    Czarny, J.5    Krzyzosiak, W.J.6
  • 45
    • 17544402221 scopus 로고    scopus 로고
    • Allelic imbalance of BRCA1 transcript in the IVS20 12-bp insertion carrier
    • Kozlowski, P., Sobczak, K., Jasinska, A. and Krzyzosiak, W.J. (2000) Allelic imbalance of BRCA1 transcript in the IVS20 12-bp insertion carrier. Hum. Mutat., 16, 371.
    • (2000) Hum. Mutat , vol.16 , pp. 371
    • Kozlowski, P.1    Sobczak, K.2    Jasinska, A.3    Krzyzosiak, W.J.4
  • 46
    • 0035226799 scopus 로고    scopus 로고
    • Prevalence of BRCA1 founder mutations in western Poland
    • Jasinska, A. and Krzyzosiak, W.J. (2001) Prevalence of BRCA1 founder mutations in western Poland. Hum. Mutat., 17, 75.
    • (2001) Hum. Mutat , vol.17 , pp. 75
    • Jasinska, A.1    Krzyzosiak, W.J.2
  • 47
    • 0029448094 scopus 로고
    • Faster and cheaper PCR on a standard thermocycler
    • Sobczak, K., Kozlowski, P. and Krzyzosiak, W.J. (1995) Faster and cheaper PCR on a standard thermocycler. Acta Biochim. Pol., 42, 363-366.
    • (1995) Acta Biochim. Pol , vol.42 , pp. 363-366
    • Sobczak, K.1    Kozlowski, P.2    Krzyzosiak, W.J.3
  • 50
    • 0032966083 scopus 로고    scopus 로고
    • Biochemical and genetic characterisation shows that the BRCA1 IVS20 insertion is a polymorphism
    • Scholl, T., Pyne, M.T., Ward, B. and Pruss, D. (1999) Biochemical and genetic characterisation shows that the BRCA1 IVS20 insertion is a polymorphism. J. Med. Genet., 36, 571-572.
    • (1999) J. Med. Genet , vol.36 , pp. 571-572
    • Scholl, T.1    Pyne, M.T.2    Ward, B.3    Pruss, D.4
  • 51
    • 0007724149 scopus 로고    scopus 로고
    • Single-stranded conformation polymorphisms and heteroduplex analysis
    • Cotton, R.G.H., Edkins, E. and Forrest, S. (eds), IRL Press at Oxford University Press, Oxford, New York, Tokyo
    • Gerrard, B. and Dean, M. (1998) Single-stranded conformation polymorphisms and heteroduplex analysis. In Cotton, R.G.H., Edkins, E. and Forrest, S. (eds), Mutation Detection. A Practical Approach. IRL Press at Oxford University Press, Oxford, New York, Tokyo, pp. 25-34.
    • (1998) Mutation Detection. A Practical Approach , pp. 25-34
    • Gerrard, B.1    Dean, M.2
  • 52
    • 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, L.A., Andersen, P.S., Kanters, J.K., Jacobsen, J.R., Vuust, J. and Christiansen, M. (1999) 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
  • 53
    • 0032772838 scopus 로고    scopus 로고
    • Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease
    • Liechti-Gallati, S., Schneider, V., Neeser, D. and Kraemer, R. (1999) Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease. Eur. J. Hum. Genet., 7, 590-598.
    • (1999) Eur. J. Hum. Genet , vol.7 , pp. 590-598
    • Liechti-Gallati, S.1    Schneider, V.2    Neeser, D.3    Kraemer, R.4
  • 54
    • 0027207044 scopus 로고
    • Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC→ATC) and at codon 431 (TAC→AAC) of the blood coagulation factor VIII gene
    • Pieneman, W.C., Reitsma, P.H. and Briet, E. (1993) Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC→ATC) and at codon 431 (TAC→AAC) of the blood coagulation factor VIII gene. Thromb. Haemost., 69, 473-475.
    • (1993) Thromb. Haemost , vol.69 , pp. 473-475
    • Pieneman, W.C.1    Reitsma, P.H.2    Briet, E.3
  • 55
    • 0027619435 scopus 로고
    • Double-strand DNA conformation polymorphisms as a source of highly polymorphic genetic markers
    • Kirkpatrick, B.W., Huff, B.M. and Casas-Carrillo, E. (1993) Double-strand DNA conformation polymorphisms as a source of highly polymorphic genetic markers. Anim. Genet., 24, 155-161.
    • (1993) Anim. Genet , vol.24 , pp. 155-161
    • Kirkpatrick, B.W.1    Huff, B.M.2    Casas-Carrillo, E.3
  • 56
    • 0027939223 scopus 로고
    • Single base substitutions are detected by double strand conformation analysis
    • Saad, F.A., Halliger, B., Muller, C.R., Roberts, R.G. and Danieli, G.A. (1994) Single base substitutions are detected by double strand conformation analysis. Nucleic Acids Res., 22, 4352-4353.
    • (1994) Nucleic Acids Res , vol.22 , pp. 4352-4353
    • Saad, F.A.1    Halliger, B.2    Muller, C.R.3    Roberts, R.G.4    Danieli, G.A.5
  • 57
    • 0027964178 scopus 로고
    • A possible missense mutation detected in the dystrophin gene by Double-Strand Conformation Analysis (DSCA)
    • Saad, F.A., Vita, G., Toffolatti, L. and Danieli, G.A. (1994) A possible missense mutation detected in the dystrophin gene by Double-Strand Conformation Analysis (DSCA). Neuromusc. Disord., 4, 335-341.
    • (1994) Neuromusc. Disord , vol.4 , pp. 335-341
    • Saad, F.A.1    Vita, G.2    Toffolatti, L.3    Danieli, G.A.4
  • 58
    • 0023177513 scopus 로고
    • Estimation of wedge components in curved DNA
    • Ulanovsky, L.E. and Trifonov, E.N. (1987) Estimation of wedge components in curved DNA. Nature, 326, 720-722.
    • (1987) Nature , vol.326 , pp. 720-722
    • Ulanovsky, L.E.1    Trifonov, E.N.2
  • 60
    • 0032833605 scopus 로고    scopus 로고
    • Capillary electrophoresis-single-strand conformation polymorphism analysis for rapid identification of Pseudomonas aeruginosa and other gram-negative nonfermenting bacilli recovered from patients with cystic fibrosis
    • Ghozzi, R., Morand, P., Ferroni, A., Beretti, J.L., Bingen, E., Segonds, C., Husson, M.O., Izard, D., Berche, P. and Gaillard, J.L. (1999) Capillary electrophoresis-single-strand conformation polymorphism analysis for rapid identification of Pseudomonas aeruginosa and other gram-negative nonfermenting bacilli recovered from patients with cystic fibrosis. J. Clin. Microbiol., 37, 3374-3379.
    • (1999) J. Clin. Microbiol , vol.37 , pp. 3374-3379
    • Ghozzi, R.1    Morand, P.2    Ferroni, A.3    Beretti, J.L.4    Bingen, E.5    Segonds, C.6    Husson, M.O.7    Izard, D.8    Berche, P.9    Gaillard, J.L.10
  • 61
    • 0027293247 scopus 로고
    • Excess PCR primers may dramatically affect SSCP efficiency
    • Cai, Q.Q. and Touitou, I. (1993) Excess PCR primers may dramatically affect SSCP efficiency. Nucleic Acids Res., 21, 3909-3910.
    • (1993) Nucleic Acids Res , vol.21 , pp. 3909-3910
    • Cai, Q.Q.1    Touitou, I.2
  • 62
    • 0031954722 scopus 로고    scopus 로고
    • PCR conditions and DNA denaturants affect reproducibility of single-strand conformation polymorphism patterns for BRCA1 mutations
    • Hennessy, L.K., Teare, J. and Ko, C. (1998) PCR conditions and DNA denaturants affect reproducibility of single-strand conformation polymorphism patterns for BRCA1 mutations. Clin. Chem., 44, 879-882.
    • (1998) Clin. Chem , vol.44 , pp. 879-882
    • Hennessy, L.K.1    Teare, J.2    Ko, C.3
  • 63
    • 0033941495 scopus 로고    scopus 로고
    • DNA pooling in mutation detection with reference to sequence analysis
    • Amos, C.I., Frazier, M.L. and Wang, W. (2000) DNA pooling in mutation detection with reference to sequence analysis. Am. J. Hum. Genet., 66, 1689-1692.
    • (2000) Am. J. Hum. Genet , vol.66 , pp. 1689-1692
    • Amos, C.I.1    Frazier, M.L.2    Wang, W.3


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