Competitive oligonucleotide single-base extension combined with mass spectrometric detection for mutation screening

BioTechniques

Volumn 23, Issue 4, 1997, Pages 710-714

  Scott Higgins, G ^a   Little, Daniel P ^a   Köster, Hubert ^a  

^a Sequenom GmbH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; FOURIER TRANSFORMATION; GENE INSERTION; GENE MUTATION; GENETIC COMPLEMENTATION; MASS SPECTROMETRY; MUTANT; RADIOACTIVITY; SCREENING;

EID: 0343247681     PISSN: 07366205     EISSN: None     Source Type: Journal    
DOI: 10.2144/97234st05     Document Type: Article

References (21)

1. Ch'ang, L.-Y., K. Tang, M. Schell, C. Ringelberg, K.J. Matteson, S.L. Allman and C.H. Chen. 1995. Detection of ΔF508 mutation of CFTR by MALDI-MS. Rapid Commun. Mass. Spectrom. 9:772-774.
2. 8 Da by ESI-FT ion cyclotron resonance MS. Anal. Chem. 67:1159-1163.
3. Doktycz, M.J., G.B. Hurst, S. Habibi-Goudarzi, S.A. McLuckey, K. Tang, C.H. Chen, M. Uziel, K.B. Jacobson, R.P. Woychik and M.V. Buchanan. 1995. Analysis of PCR-amplified DNA products by MS using MALDI and ESI: current status. Anal. Biochem. 230:205-214.
4. Dynal Inc. 1995. Biomagnetic techniques in molecular biology. Appendix F. 4:154-155. Technical Handbook 1, 2nd ed. Oslo, Norway.
5. Fenn, J.B., M. Mann, C.K. Meng, S.F. Wong and C.M. Whitehouse. 1990. Electrospray ionization-principles and practice. Mass Spectrom. Rev. 9:37-70.
6. Ferrie, R.M., MJ. Schwartz, N.H. Robertson, S. Vaudin, M. Super, G. Malone and S. Little. 1992. Development, multiplexing, and application of ARMS test for common mutations in the CFTR gene. Am. J. Hum. Genet. 51:251-262.
7. Fitzgerald, M.C. and L.M. Smith. 1995 MS of nucleic acids: the promise of MALDI MS. Annu. Rev. Biophys. Biomol. Struct. 24:117-140.
8. Hillenkamp, F., M. Karas, R.C. Beavis and B.T. Chait. 1991. Introduction of MALDI principles and review of early applications. Anal. Chem. 63:1193A-1202A.
9. Juhasz, P., M.T. Roskey, I.P. Smirnov, L.A. Haff, M.L. Vestal and S.A. Martin. 1996. Applications of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry to oligonucleotide analysis. Anal. Chem. 68:941-946.
10. Kerem, B., J.M. Rommens, J.A. Buchanan, D. Markiewicz, T.K. Cox, A. Chakravarti, M. Buchwald and L.-C. Tsui. 1989 Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073-1080.
11. Little, D.P. and F.W. McLafferty. 1995. Sequencing 50-mer DNAs using electrospray tandem mass spectrometry. J. Am. Chem. Soc. 117:6783-6784.
12. Little, D.P., T.W. Thannhauser and F.W. McLafferty. 1995. Verification of 50-to 100-mer DNA and RNA sequences with high-resolution mass spectrometry. Proc. Natl. Acad. Sci. USA 92:2318-2322.
13. Newton, C.R., A. Graham, L.E. Hepintstall, S.J. Powell, J.C. Smith and A.C. Markham. 1989. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res. 17:2503-2516.
14. Saiki, R.K., T.H. Bugawan, G.J. Horn, K.B. Mullis and H.A. Erlich. 1986. Analysis of enzymatically amplified DNA with allele specific oligonucleotide probes. Nature 324:163-168.
15. Saiki, R.K., P.S. Walsh, C.H. Levenson and H.A. Erlich. 1989. Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc. Natl. Acad. Sci. USA 86:6230-6234.
16. Sinha, N.D., J. Biernat, J. McManus and H. Kösten 1984. Phosphoramidite chemistry for automated DNA synthesis. Nucleic Acids Res. 12:4539.
17. Syvänen, A.-C., K. Aalto-Setälä, L. Harju, K. Kontula and H. Söderlund. 1990. A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics 8:684-692.
18. Tang, K., D. Fu, S. Kötter, R.J. Cotter, C.R. Cantor and H. Köster. 1995. MALDI MS of immobilized duplex DNA probes. Nucleic Acids Res 23:3126-3131.
19. Tang, K., N.I. Taranenko, S.L. Allman, L.Y. Chang and C.H. Chen. 1994. Detection of 500-nucleotide DNA by laser desorption mass spectrometry. Rapid Commun. Mass Spectrom. 8:727-730.
20. Wall, J., S. Cai and F.F. Chehab. 1995. A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostic laboratory. Hum. Mutat. 5:333-338.
21. Wu, K.J., A. Steding and C.H. Becker. 1993. MALDI-TOFMS of oligonucleotides using 3-hydroxypicolinic acid as an ultraviolet-sensitive matrix. Rapid Commun. Mass Spectrom. 7:142-146.