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Volumn 30, Issue 3, 1995, Pages 574-582

Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; DNA; DYSTROPHIN; FLUORESCENT DYE; HYDROXYLAMINE; OSMIUM TETRAOXIDE; PIPERIDINE;

EID: 0029593548     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1006/geno.1995.1279     Document Type: Article
Times cited : (68)

References (26)
  • 1
    • 0000511029 scopus 로고
    • Ille-gitimate transcription: Transcription of any gene in any cell type
    • Chelly, J., Concordet, J. P., Kaplan, J.-C., and Kahn, A. (1989). Ille-gitimate transcription: Transcription of any gene in any cell type. Proc. Natl. Acad. Sci. USA. 86: 2617-2621.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 2617-2621
    • Chelly, J.1    Concordet, J.P.2    Kaplan, J.-C.3    Kahn, A.4
  • 2
    • 0027518279 scopus 로고
    • Current methods of mutation detection
    • Cotton, R. G. H. (1993). Current methods of mutation detection. Mutât. Res. 285: 125-144.
    • (1993) Mutât. Res , vol.285 , pp. 125-144
    • Cotton, R.G.H.1
  • 3
    • 0024021305 scopus 로고
    • Reac-tivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
    • Cotton, R. G. H., Rodrigues, N. R., and Campbell, R. D. (1988). Reac-tivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc. Natl. Acad. Sci. USA 85: 4397-4401.
    • (1988) Proc. Natl. Acad. Sci. USA , vol.85 , pp. 4397-4401
    • Cotton, R.G.H.1    Rodrigues, N.R.2    Campbell, R.D.3
  • 5
    • 0025821421 scopus 로고
    • Mutation detection in phenylketonuria using the chemical cleavage of mismatch method: Importance of using probes from both normal and patient samples
    • Forrest, S. M., Dahl, H. H., Howells, D. N., Dianzani, I., and Cotton, R. G. H. (1991). Mutation detection in phenylketonuria using the chemical cleavage of mismatch method: Importance of using probes from both normal and patient samples. Am. J. Hum. Genet. 49: 175-183.
    • (1991) Am. J. Hum. Genet , vol.49 , pp. 175-183
    • Forrest, S.M.1    Dahl, H.H.2    Howells, D.N.3    Dianzani, I.4    Cotton, R.G.H.5
  • 8
    • 0025733518 scopus 로고
    • Hemophilia B mutations in a complete Swedish population sample. A test of new strategy for the genetic counselling of diseases with high mutational heterogeneity
    • Green, P. M., Montandon, A. J., Ljung, R., Bentley, D. R., Nilsson, I. M., Kling, S., and Giannelli, F. (1991). hemophilia B mutations in a complete Swedish population sample. A test of new strategy for the genetic counselling of diseases with high mutational heterogeneity. Br. J. Haematol. 78: 390-397.
    • (1991) Br. J. Haematol , vol.78 , pp. 390-397
    • Green, P.M.1    Montandon, A.J.2    Ljung, R.3    Bentley, D.R.4    Nilsson, I.M.5    Kling, S.6    Giannelli, F.7
  • 9
    • 0027435938 scopus 로고
    • The rapid detection of unknown mutations in nucleic acids
    • Grompe, M, (1993). The rapid detection of unknown mutations in nucleic acids. Nature Genet. 5: 111-117.
    • (1993) Nature Genet , vol.5 , pp. 111-117
    • Grompe, M.1
  • 10
    • 0028316190 scopus 로고
    • Mutation detection by fluorescent chemical cleavage: Application to hemophilia B
    • Haris, I. I., Green, P. M., Bentley, D. R., and Giannelli, F. (1994). Mutation detection by fluorescent chemical cleavage: Application to hemophilia B. PCR Methods Appi. 3: 268-271.
    • (1994) PCR Methods Appi , vol.3 , pp. 268-271
    • Haris, I.I.1    Green, P.M.2    Bentley, D.R.3    Giannelli, F.4
  • 11
    • 0024284028 scopus 로고
    • Asimple salting out procedure for extracting DNA from human nucleated cells
    • Miller, S. A., Dykes, D. D., and Polesky, H. F. (1988). Asimple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 12
    • 0024605060 scopus 로고
    • Direct detection of point mutations by mismatch analysis: Application to hemophilia B
    • Montandon, A. J., Green, P. M., Giannelli, F., and Bentley, D. R. (1989). Direct detection of point mutations by mismatch analysis: Application to hemophilia B. Nucleic Acids Res. 17: 3347-3358.
    • (1989) Nucleic Acids Res , vol.17 , pp. 3347-3358
    • Montandon, A.J.1    Green, P.M.2    Giannelli, F.3    Bentley, D.R.4
  • 13
    • 0023476285 scopus 로고
    • Detection and localisation of single base changes by denaturing gradient gel elec-trophoresis
    • Myers, R. M., Maniatis, T., and Lerman, L. S. (1987). Detection and localisation of single base changes by denaturing gradient gel elec-trophoresis. Methods Enzymol. 155: 501-527.
    • (1987) Methods Enzymol , vol.155 , pp. 501-527
    • Myers, R.M.1    Maniatis, T.2    Lerman, L.S.3
  • 14
    • 0025978384 scopus 로고
    • Detection of three novel mutations in two hemophilia A patients by rapidly screening whole essential regions of the factor VIII gene
    • Naylor, J. A., Green, P. M., Montandon, A. J., Rizza, C. R., and Giannelli, F. (1991). Detection of three novel mutations in two hemophilia A patients by rapidly screening whole essential regions of the factor VIII gene. Lancet 337: 635-639.
    • (1991) Lancet , vol.337 , pp. 635-639
    • Naylor, J.A.1    Green, P.M.2    Montandon, A.J.3    Rizza, C.R.4    Giannelli, F.5
  • 15
    • 0027340359 scopus 로고
    • Analysis of factor VIII m RNA reveals defects in every one of 28 hemophilia A patients
    • Naylor, J. A., Green, P. M., Rizza, C. R., and Giannelli, F. (1993). Analysis of factor VIII m RNA reveals defects in every one of 28 hemophilia A patients. Hum. Mol. Genet. 2: 11-17.
    • (1993) Hum. Mol. Genet , vol.2 , pp. 11-17
    • Naylor, J.A.1    Green, P.M.2    Rizza, C.R.3    Giannelli, F.4
  • 16
    • 0024595101 scopus 로고
    • Detection of polymorphism of human DNA by gel electrophoresis as single-strand conformation polymorphism
    • Orita, M. Y., Suzuki, Y., Sekiya, T., and Hatashi, K. (1989). Detection of polymorphism of human DNA by gel electrophoresis as single-strand conformation polymorphism. Proc. Natl. Acad. Sci. USA 86: 2766-2770.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 2766-2770
    • Orita, M.Y.1    Suzuki, Y.2    Sekiya, T.3    Hatashi, K.4
  • 18
    • 0028345068 scopus 로고
    • First report on UK database of hemophilia B mutations and pedigrees
    • UK hemophilia Centres
    • Saad, S., Rowley, G., Tagliavacca, L., Green, P. M., Giannelli, F., and UK hemophilia Centres (1994). First report on UK database of hemophilia B mutations and pedigrees. Thromb. Haemost. 71: 563-570.
    • (1994) Thromb. Haemost , vol.71 , pp. 563-570
    • Saad, S.1    Rowley, G.2    Tagliavacca, L.3    Green, P.M.4    Giannelli, F.5
  • 19
    • 0024506157 scopus 로고
    • Access to messenger RNA sequence or its protein product is not limited by tissue or species specificity
    • Sarkar, G., and Sommer, S. S. (1989). Access to messenger RNA sequence or its protein product is not limited by tissue or species specificity. Science 244: 331-334.
    • (1989) Science , vol.244 , pp. 331-334
    • Sarkar, G.1    Sommer, S.S.2
  • 20
    • 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
  • 21
    • 0000023099 scopus 로고
    • Attachment of a 40 base pair G+C rich sequence (GC clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single base changes
    • Sheffield, V. C., Cox, D. R., Lerman, L. S., and Myers, R. M. (1989). Attachment of a 40 base pair G+C rich sequence (GC clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single base changes. Proc. Natl. Acad. Sci. USA 86: 232-236.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 232-236
    • Sheffield, V.C.1    Cox, D.R.2    Lerman, L.S.3    Myers, R.M.4
  • 22
    • 0027121247 scopus 로고
    • Solid-phase method for the purifi-cation of DNA sequencing reactions
    • Tong, X., and Smith, L. M. (1992). Solid-phase method for the purifi-cation of DNA sequencing reactions. Anal. Chem. 64: 2672-2677.
    • (1992) Anal. Chem , vol.64 , pp. 2672-2677
    • Tong, X.1    Smith, L.M.2
  • 23
    • 0028348715 scopus 로고
    • Efficient detection of point mutations on color-coded strands of target DNA
    • Verpy, E., Biasotto, T., Meo, T., and Tosi, M. (1994). Efficient detection of point mutations on color-coded strands of target DNA. Proc. Natl. Acad. Sci. USA 91: 1873-1877.
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 1873-1877
    • Verpy, E.1    Biasotto, T.2    Meo, T.3    Tosi, M.4
  • 24
    • 0027283812 scopus 로고
    • A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B
    • Vielhaber, El, Jacobson, D. P., Ketterling, R. P., Liu, J. Z., and Sommer, S. S. (1993). A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B. Hum. Mol. Genet. 2: 1309-1310.
    • (1993) Hum. Mol. Genet , vol.2 , pp. 1309-1310
    • Vielhaber, E.1    Jacobson, D.P.2    Ketterling, R.P.3    Liu, J.Z.4    Sommer, S.S.5
  • 25
    • 0024600983 scopus 로고
    • An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide
    • Winship, P. R, (1989). An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide. Nucleic Acids Res. 17: 1266.
    • (1989) Nucleic Acids Res , vol.17 , pp. 1266
    • Winship, P.R.1
  • 26
    • 0022257323 scopus 로고
    • Nucleotide sequence of the gene for human factor IX (Antihemophilia factor B)
    • Yoshitake, S., Schack, B. G., Foster, D. C., Davie, E. W., and Kurachi, K. (1985). Nucleotide sequence of the gene for human factor IX (antihemophilia factor B). Biochemistry 24: 3736-3750.
    • (1985) Biochemistry , vol.24 , pp. 3736-3750
    • Yoshitake, S.1    Schack, B.G.2    Foster, D.C.3    Davie, E.W.4    Kurachi, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.