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Volumn 5, Issue 1, 1996, Pages 17-31

Fluorescence-Based Mutation Detection: Single-Strand Conformation Polymorphism Analysis (F-SSCP)

Author keywords

DNA mutational analysis; DNA, single stranded; Genetic screening; Heterozygote detection; Nonradioisotope detection; Nucleic acid conformation; Point mutation; Polymerase chain reaction methods; Single strand conformation polymorphism; Suppressor mutation

Indexed keywords

LANES;

EID: 1842580296     PISSN: 10736085     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02762409     Document Type: Article
Times cited : (3)

References (46)
  • 2
    • 0027487271 scopus 로고
    • Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations
    • Glavac, D. and Dean, M. (1993) Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum. Mutat. 2, 404-414.
    • (1993) Hum. Mutat. , vol.2 , pp. 404-414
    • Glavac, D.1    Dean, M.2
  • 3
    • 0026207465 scopus 로고
    • PCR-SSCP: A simple and sensitive method for detection of mutations in the genomic DNA
    • Hayashi, K. (1991) PCR-SSCP: a simple and sensitive method 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
  • 4
    • 44049116183 scopus 로고
    • PCR-SSCP: A method for detection of mutations
    • Hayashi, K. (1992) PCR-SSCP: a method for detection of mutations. GATA 9, 73-79.
    • (1992) GATA , vol.9 , pp. 73-79
    • Hayashi, K.1
  • 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
    • 0025787175 scopus 로고
    • Detecting high-resolution polymorphisms in human coding loci by combining PCR and singlestrand conformation polymorphism (SSCP) analysis
    • Poduslo, S. E., Dean, M., Kolch, U., and O'Brien, S. J. (1991) Detecting high-resolution polymorphisms in human coding loci by combining PCR and singlestrand conformation polymorphism (SSCP) analysis. Am. J. Hum. Genet. 49, 106-111.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 106-111
    • Poduslo, S.E.1    Dean, M.2    Kolch, U.3    O'Brien, S.J.4
  • 8
    • 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., and Dean, M. (1994) Sensitivity of single-strand 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
  • 9
    • 0027198583 scopus 로고
    • Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: Detection of mutations and sequence variations
    • Ravnik-Glavac, M., Glavac, D., Komel, R., and Dean, M. (1993) Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations. Hum. Mutat. 2, 286-292.
    • (1993) Hum. Mutat. , vol.2 , pp. 286-292
    • Ravnik-Glavac, M.1    Glavac, D.2    Komel, R.3    Dean, M.4
  • 10
  • 12
    • 0026753906 scopus 로고
    • Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP)
    • Economou, E. P., Kazazian, H. H., Jr., and Antonarkis, S. E. (1992) Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP). Genomics 13, 909-911.
    • (1992) Genomics , vol.13 , pp. 909-911
    • Economou, E.P.1    Kazazian Jr., H.H.2    Antonarkis, S.E.3
  • 13
    • 0025129441 scopus 로고
    • Identification of a factor IX point mutation using SSCP analysis and direct sequencing
    • Demers, D. B., Odelberg, S. J., and Fisher, L. McA. (1990) Identification of a factor IX point mutation using SSCP analysis and direct sequencing. Nucleic Acids Res. 18, 5575.
    • (1990) Nucleic Acids Res. , vol.18 , pp. 5575
    • Demers, D.B.1    Odelberg, S.J.2    Fisher, L.McA.3
  • 14
    • 0026087687 scopus 로고
    • Diagnostic single-strand conformational polymorphism, (SSCP): A simplified non-radioisotopic method as applied to a Tay Sachs B1 variant
    • Ainsworth, P. J., Surh, L. C., and Coulter-Mackie, M. B. (1991) Diagnostic single-strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay Sachs B1 variant. Nucleic Acids Res. 19, 405,406.
    • (1991) Nucleic Acids Res. , vol.19 , pp. 405
    • Ainsworth, P.J.1    Surh, L.C.2    Coulter-Mackie, M.B.3
  • 16
    • 0025146957 scopus 로고
    • Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: Identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene
    • Hata, A., Robertson, M., Emi, M., and Lalouel, J.-M. (1990) Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene. Nucleic Acids Res. 18, 5407,5408.
    • (1990) Nucleic Acids Res. , vol.18 , pp. 5407
    • Hata, A.1    Robertson, M.2    Emi, M.3    Lalouel, J.-M.4
  • 17
    • 0027018340 scopus 로고
    • A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene
    • Eiken, H. G., Knappskog, P. M., Apold, J., Skjelkvale, L., and Boman, H. (1992) A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene. Hum. Mutat. 1, 388-391.
    • (1992) Hum. Mutat. , vol.1 , pp. 388-391
    • Eiken, H.G.1    Knappskog, P.M.2    Apold, J.3    Skjelkvale, L.4    Boman, H.5
  • 18
    • 0025990215 scopus 로고
    • Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa
    • Dryja, T. P., Hahn, L. B., Cowley, G. S., McGee, T. L., and Berson, E. L. (1991) Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 88, 9370-9374.
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 9370-9374
    • Dryja, T.P.1    Hahn, L.B.2    Cowley, G.S.3    McGee, T.L.4    Berson, E.L.5
  • 20
    • 0028029081 scopus 로고
    • Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients
    • Hayward, C., Rae, A. L., Portous, M. E., Logie, L. J., and Brock, D. J. (1994) Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients. Hum. Mol. Genet. 3, 373-375.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 373-375
    • Hayward, C.1    Rae, A.L.2    Portous, M.E.3    Logie, L.J.4    Brock, D.J.5
  • 21
    • 0026696395 scopus 로고
    • A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy: Single-strand conformation polymorphism as a new genetic marker
    • Saeki, Y., Ueno, S., Takahashi, N., Soga, F., and Yanagihara, T. (1992) A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy: single-strand conformation polymorphism as a new genetic marker. FEBS 308, 35-37.
    • (1992) FEBS , vol.308 , pp. 35-37
    • Saeki, Y.1    Ueno, S.2    Takahashi, N.3    Soga, F.4    Yanagihara, T.5
  • 22
    • 0026541796 scopus 로고
    • Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms
    • Kawame, H., Hasegawa, Y., Eto, Y., and Maekawa, K. (1992) Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms. Hum. Genet. 90, 294-296.
    • (1992) Hum. Genet. , vol.90 , pp. 294-296
    • Kawame, H.1    Hasegawa, Y.2    Eto, Y.3    Maekawa, K.4
  • 25
    • 44049114713 scopus 로고
    • Detection of single-base mutations in a mixed population of cells: A comparison of SSCP and direct sequencing
    • Smith, T. A., Whelan, J., and Parry, P. J. (1992) Detection of single-base mutations in a mixed population of cells: a comparison of SSCP and direct sequencing. GATA 9, 143-145.
    • (1992) GATA , vol.9 , pp. 143-145
    • Smith, T.A.1    Whelan, J.2    Parry, P.J.3
  • 27
    • 0027221117 scopus 로고
    • K-ras point mutations in routinely processed tissues: Non-radioactive screening by single-strand conformational polymorphism analysis
    • Korn, S. H., Moerkerk, P. T., and de Goeij, A. F. (1993) K-ras point mutations in routinely processed tissues: non-radioactive screening by single-strand conformational polymorphism analysis. J. Clin. Pathol. 46, 621-623.
    • (1993) J. Clin. Pathol. , vol.46 , pp. 621-623
    • Korn, S.H.1    Moerkerk, P.T.2    De Goeij, A.F.3
  • 28
    • 0028048337 scopus 로고
    • Gene amplification and multiple mutations in the K-ras oncogene in Kaposi's sarcoma
    • Nicolaides, A., Huang, Y. Q., Li, J. J., Zhang, W. G., and Friedman-Kein, A. E. (1994) Gene amplification and multiple mutations in the K-ras oncogene in Kaposi's sarcoma. Anticancer Res. 14, 921-926.
    • (1994) Anticancer Res. , vol.14 , pp. 921-926
    • Nicolaides, A.1    Huang, Y.Q.2    Li, J.J.3    Zhang, W.G.4    Friedman-Kein, A.E.5
  • 31
    • 0027300049 scopus 로고
    • In primary human breast carcinomas mutations in exons 5 and 6 of the p53 gene are associated with a high S-phase index
    • Merlo, G. R., Bernardi, A., Diella, F., Venesio, T., Cappa, A. P. M., Callahan, R., and Liscia, D. S. (1993) In primary human breast carcinomas mutations in exons 5 and 6 of the p53 gene are associated with a high S-phase index. Int. J. Cancer 54, 531-535.
    • (1993) Int. J. Cancer , vol.54 , pp. 531-535
    • Merlo, G.R.1    Bernardi, A.2    Diella, F.3    Venesio, T.4    Cappa, A.P.M.5    Callahan, R.6    Liscia, D.S.7
  • 32
    • 0027207728 scopus 로고
    • Genetic alterations in the p53 gene in the blast crisis of chronic myelogenous leukemia: Analysis by polymerase chain reaction based techniques
    • Neubauer, A., He, M., Schmidt, C. A., Huhn, D., and Liu, E. T. (1993) Genetic alterations in the p53 gene in the blast crisis of chronic myelogenous leukemia: analysis by polymerase chain reaction based techniques. Leukemia 7, 593-600.
    • (1993) Leukemia , vol.7 , pp. 593-600
    • Neubauer, A.1    He, M.2    Schmidt, C.A.3    Huhn, D.4    Liu, E.T.5
  • 33
    • 0027336378 scopus 로고
    • p53 mutations in sporadic adrenocortical tumors
    • Ohgaki, P., Kleihues, P., and Heitz, P. U. (1993) p53 mutations in sporadic adrenocortical tumors. Int. J. Cancer 54, 408-410.
    • (1993) Int. J. Cancer , vol.54 , pp. 408-410
    • Ohgaki, P.1    Kleihues, P.2    Heitz, P.U.3
  • 34
    • 85045500430 scopus 로고
    • Improved detection of mutations in the p53 gene in human tumors as single-stranded conformation polymorphs and double-stranded heteroduplex DNA
    • Soto, D. and Sukumar, S. (1992) Improved detection of mutations in the p53 gene in human tumors as single-stranded conformation polymorphs and double-stranded heteroduplex DNA. PCR Methods Appl. 2, 96-98.
    • (1992) PCR Methods Appl. , vol.2 , pp. 96-98
    • Soto, D.1    Sukumar, S.2
  • 35
    • 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 cDNA
    • 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 cDNA. 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
  • 37
    • 0026528056 scopus 로고
    • Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): Comparison with DNA-SSCP
    • Sarkar, G., Yoon, H.-S., and Sommer, S. S. (1992) Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP. Nucleic Acids Res. 20, 871-878.
    • (1992) Nucleic Acids Res. , vol.20 , pp. 871-878
    • Sarkar, G.1    Yoon, H.-S.2    Sommer, S.S.3
  • 38
    • 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
  • 39
    • 0027358572 scopus 로고
    • Efficacy of fluorescence-based PCR-SSCP for detection of point mutations
    • Ellison, J., Dean, M., and Goldman, D. (1993) Efficacy of fluorescence-based 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
  • 40
    • 0025813473 scopus 로고
    • Protocols for an improved detection of point mutations by SSCP
    • Spinardi, L., Mazars, R., and Theillet, C. (1991) Protocols for an improved detection of point mutations by SSCP. Nucleic Acids Res. 19, 4009.
    • (1991) Nucleic Acids Res. , vol.19 , pp. 4009
    • Spinardi, L.1    Mazars, R.2    Theillet, C.3
  • 41
    • 0026556868 scopus 로고
    • Detection of point mutations by SSCP of PCRamplified DNA after endonuclease digestion
    • Iwahana, H., Yoshimoto, K., and Itakura, M. (1992) Detection of point mutations by SSCP of PCRamplified DNA after endonuclease digestion. BioTechniques 12, 64,65.
    • (1992) BioTechniques , vol.12 , pp. 64
    • Iwahana, H.1    Yoshimoto, K.2    Itakura, M.3
  • 42
    • 0026792808 scopus 로고
    • Mutational analysis by a combined application of the multiple restriction fragment-single-strand conformation polymorphism and the direct linear amplification DNA sequencing protocols
    • Lee, H.-H., Lo, W.-J., and Choo, K-B. (1992) Mutational analysis by a combined application of the multiple restriction fragment-single-strand conformation polymorphism and the direct linear amplification DNA sequencing protocols. Anal. Biochem. 205, 289-293.
    • (1992) Anal. Biochem. , vol.205 , pp. 289-293
    • Lee, H.-H.1    Lo, W.-J.2    Choo, K.-B.3
  • 43
    • 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
  • 44
    • 0028138702 scopus 로고
    • Detection of mutations and polymorphisms using fluorescence-based dideoxy fingerprinting (F-ddF)
    • Ellison, J., Squires, G., Crutchfield, C., and Goldman, D. (1994) Detection of mutations and polymorphisms using fluorescence-based dideoxy fingerprinting (F-ddF). BioTechniques 17, 742-753.
    • (1994) BioTechniques , vol.17 , pp. 742-753
    • Ellison, J.1    Squires, G.2    Crutchfield, C.3    Goldman, D.4
  • 45
    • 0027364515 scopus 로고
    • Practical application of fluorescence-based image analyzer for PCR single-stranded conformation polymorphism analysis used in detection of multiple point mutations
    • Takahashi-Fuji, A., Ishino, Y., Shimada, A., and Kato, I. (1993) Practical application of fluorescence-based image analyzer for PCR single-stranded conformation polymorphism analysis used in detection of multiple point mutations. PCR Methods Appl. 2, 323-327.
    • (1993) PCR Methods Appl. , vol.2 , pp. 323-327
    • Takahashi-Fuji, A.1    Ishino, Y.2    Shimada, A.3    Kato, I.4


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