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Volumn 6, Issue 2, 1998, Pages 145-150

Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols

Author keywords

BRCA1; Conformation sensitive gel electrophoresis; Hereditary breast cancer; Mutation detection; Single strand conformation polymorphism analysis

Indexed keywords

BRCA1 PROTEIN; DNA; MACROGOL 6000;

EID: 0031978284     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200171     Document Type: Article
Times cited : (48)

References (17)
  • 1
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
    • Ganguly A, Rock MJ, Prockop DJ: Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993; 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
  • 2
    • 2742525287 scopus 로고
    • Inheritance of breast cancer: Evidence for autosomal dominant transmission in high risk families
    • Newman B, Austin MA, Lee M, King M-C: Inheritance of breast cancer: evidence for autosomal dominant transmission in high risk families. Proc Natl Acad Sci USA 1988; 85: 1-5.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 1-5
    • Newman, B.1    Austin, M.A.2    Lee, M.3    King, M.-C.4
  • 4
    • 0028113345 scopus 로고
    • A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
    • Miki Y, Swensen J, Shattuck-Eidens D et al: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994; 266: 66-71.
    • (1994) Science , vol.266 , pp. 66-71
    • Miki, Y.1    Swensen, J.2    Shattuck-Eidens, D.3
  • 5
    • 0028844202 scopus 로고
    • Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation
    • Gayther SA, Warren W, Mazoyer S et al: Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Gen 1995; 11: 428-433.
    • (1995) Nat Gen , vol.11 , pp. 428-433
    • Gayther, S.A.1    Warren, W.2    Mazoyer, S.3
  • 6
    • 0029980129 scopus 로고    scopus 로고
    • Mutations and polymorphisms in the familial earlyonset breast cancer (BRCA1) gene
    • Couch FJ, Weber BL and the Breast Cancer Information Core: Mutations and polymorphisms in the familial earlyonset breast cancer (BRCA1) gene. Hum Mutat 1996; 8: 8-18.
    • (1996) Hum Mutat , vol.8 , pp. 8-18
    • Couch, F.J.1    Weber, B.L.2
  • 7
    • 0029034155 scopus 로고
    • Rapid detection of BRCA1 mutations by the protein truncation test
    • Hogervorst FBL, Cornelis RS, Bout M et al: Rapid detection of BRCA1 mutations by the protein truncation test. Nat Gen 1995; 10: 208-212.
    • (1995) Nat Gen , vol.10 , pp. 208-212
    • Hogervorst, F.B.L.1    Cornelis, R.S.2    Bout, M.3
  • 9
    • 0028034348 scopus 로고
    • Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families
    • Friedman LS, Ostermeyer EA, Szabo CI, Dowd P, Lynch ED, Rowell SE, King M-C: Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Gen 1994; 8: 399-404.
    • (1994) Nat Gen , vol.8 , pp. 399-404
    • Friedman, L.S.1    Ostermeyer, E.A.2    Szabo, C.I.3    Dowd, P.4    Lynch, E.D.5    Rowell, S.E.6    King, M.-C.7
  • 10
    • 0024354083 scopus 로고
    • Polymerase chain reaction amplification products separated on rehydratable polyacrylamide gels and stained with silver
    • Allen RC, Graves G, Budowle B: Polymerase chain reaction amplification products separated on rehydratable polyacrylamide gels and stained with silver. Bio Techniques 1989; 7: 736-744.
    • (1989) Bio Techniques , vol.7 , pp. 736-744
    • Allen, R.C.1    Graves, G.2    Budowle, B.3
  • 12
    • 0031029171 scopus 로고    scopus 로고
    • Optimization of single-strand conformation polymorphism analysis in the presence of polyethylene glycol
    • Markoff A, Savov A, Vladimirov V, Bogdanova N, Kremensky I, Ganev V: Optimization of single-strand conformation polymorphism analysis in the presence of polyethylene glycol. Clin Chem 1997; 43: 30-33.
    • (1997) Clin Chem , vol.43 , pp. 30-33
    • Markoff, A.1    Savov, A.2    Vladimirov, V.3    Bogdanova, N.4    Kremensky, I.5    Ganev, V.6
  • 13
    • 0030992602 scopus 로고    scopus 로고
    • Detection of mutations in multiexon genes: Comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations
    • Ganguly A, Williams C: Detection of mutations in multiexon genes: comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations. Hum Mutat 1997; 9: 339-343.
    • (1997) Hum Mutat , vol.9 , pp. 339-343
    • Ganguly, A.1    Williams, C.2
  • 14
    • 0028198386 scopus 로고
    • Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene
    • Ravnik-Glavac M, Glavac D, Dean M: Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum Mol Gen 1994; 3: 801-807.
    • (1994) Hum Mol Gen , vol.3 , pp. 801-807
    • Ravnik-Glavac, M.1    Glavac, D.2    Dean, M.3
  • 15
    • 0026528056 scopus 로고
    • Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): Comparison with DNA-SSCP
    • Sarkar G, Yoon H-S, Sommer SS: Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP. Nucl Acids Res 1992; 20: 871-878.
    • (1992) Nucl Acids Res , vol.20 , pp. 871-878
    • Sarkar, G.1    Yoon, H.-S.2    Sommer, S.S.3
  • 16
    • 0027518279 scopus 로고
    • Current methods of mutation detection
    • Cotton RGH: Current methods of mutation detection. Mut Res 1993; 285: 125-144.
    • (1993) Mut Res , vol.285 , pp. 125-144
    • Cotton, R.G.H.1
  • 17
    • 0027487271 scopus 로고
    • Optimization of single-strand conformation polymorphism (SSCP) technique for detection of point mutations
    • Glavac D, Dean M: Optimization of single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum Mutat 1993; 2: 404-414.
    • (1993) Hum Mutat , vol.2 , pp. 404-414
    • Glavac, D.1    Dean, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.