Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry

Clinical Chemistry

Volumn 43, Issue 7, 1997, Pages 1151-1158

  Braun, Andreas ^a   Little, Daniel P ^a   Köster, Hubert ^b  

^a Sequenom GmbH   (Germany)

^b UNIVERSITY OF HAMBURG   (Germany)

Author keywords

Cystic fibrosis; Dideoxynucleotides; PROBE

Indexed keywords

2',3' DIDEOXYNUCLEOSIDE DERIVATIVE; DNA POLYMERASE; NUCLEIC ACID BASE; OLIGONUCLEOTIDE;

ALLELE; ARTICLE; CYSTIC FIBROSIS; EXON; GENE AMPLIFICATION; GENE MUTATION; HUMAN; MASS SPECTROMETRY; OLIGONUCLEOTIDE PROBE; POLYMERASE CHAIN REACTION;

EID: 0030852959     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/43.7.1151     Document Type: Article

References (30)

1. Cystic Fibrosis Genetic Analysis Consortium. Cystic fibrosis mutation database. http://www.genet.sickkids.on.ca/cftr.
2. Cutting GR, Curristin SM, Nash E, Rosenstein BJ, Lerer I, Abeliovich D, et al. Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. Am J Hum Genet 1992;50:1185-94.
3. Shrimpton AE, Brock DJH. Molecular screening of partners of cystic fibrosis heterozygotes. Genet Couns 1992;3:13-8.
4. Tümmler B, Storrs T, Dziadek V, Dörk T, Meitinger T, Golla A, et al. Geographic distribution and origin of CFTR mutations in Germany. Hum Genet 1996;97:727-31.
5. Saiki RK, Walsh PS, Levenson CH, Erlich HA. Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci U S A 1989;86:6230-4.
6. Ferrie RM, Schwarz MJ, Robertson NH, Vaudin S, Super M, Malone G, et al. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet 1992;51:251-62.
7. Drmanac R, Drmanac S, Strezoska Z, Paunesku T, Labat I, Zeremski M, et al. DNA sequence determination by hybridization: a strategy for efficient large-scale sequencing. Science 1993;260: 1649-52.
8. Grossman PD, Bloch W, Brinson E, Chang CC, Eggerding FA, Fung S, et al. High-density multiplex detection of nucleic acid sequences: oligonucleotide ligation assay and sequence-coded separation. Nucleic Acids Res 1994;22:4527-34.
9. Nikiforov TT, Rendle RB, Goelet P, Rogers YH, Kotewicz ML, Andreson S, et al. Genetic bit analysis: a solid phase method for typing single nucleotide polymorphisms. Nucleic Acids Res 1994; 22:4167-75.
10. Jalanko A, Kere J, Savilahti E, Schwartz M, Syvänen A-C, Ranki M, et al. Screening for defined cystic fibrosis mutations by solid-phase minisequencing. Clin Chem 1992;38:39-43.
11. Paunio T, Reima I, Syvänen A-C. Preimplantation diagnosis by whole-genome amplification, PCR amplification, and solid-phase minisequencing of blastomere DNA. Clin Chem 1996;42:1382-1390.
12. Pastinen T, Partanen J, Syvänen A-C. Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation. Clin Chem 1996;42:1391-7.
13. Tanaka K, Waki H, Ido Y, Akita S, Yoshida S, Yoshida T. Protein analysis up to m/z 100 000 by laser ionization time-of-flight mass spectrometry. Rapid Commun Mass Spectrom 1988;2:151-63.
14. Karas M, Hillenkamp F. Laser desorption ionization of proteins with molecular masses exceeding 10 000 daltons. Anal Chem 1988;60:2299-301.
15. Hillenkamp F, Karas M, Beavis RC, Chait BT. Matrix-assisted laser desorption/ionization mass spectrometry of biopolymers [Review]. Anal Chem 1991;63:1193A-202A.
16. Fenn JB, Mann M, Meng CK, Wong SF, Whitehouse CM. Electrospray ionization for mass spectrometry of large biomolecules. Science 1989;246:64-71.
17. Chait BT, Kent SBH. Weighing naked proteins: practical, high-accuracy mass measurement of peptides and proteins. Science 1992;257:1885-93.
18. Fitzgerald MC, Smith LM. MS of nucleic acids: the promise of MALDI MS. Annu Rev Biophys Biomol Struct 1995;24:117-40.
19. Doktycz MJ, Hurst GB, Habibi-Goudarzi S, McLuckey SA, Tang K, Chen CH, et al. Analysis of polymerase chain reaction-amplified DNA products by mass spectrometry using matrix-assisted laser desorption and electrospray: current status. Anal Biochem 1995; 230:205-14.
20. Little DP, Thannhauser TW, McLafferty FW. Verification of 50- to 100-mer DNA and RNA sequences with high-resolution mass spectrometry. Proc Natl Acad Sci U S A 1995;82:2318-22.
21. Tang K, Taranenko NI, Allman SL, Chang LY, Chen CH. Detection of 500-nucleotide DNA by laser desorption mass spectrometry. Rapid Commun Mass Spectrom 1994;8:727-30.
22. Liu Y-H, Bai J, Zhu Y, Liang X, Siemieniak D, Venta PJ, et al. Rapid screening of genetic polymorphisms using buccal cell DNA with detection by matrix-assisted laser desorption/ionization mass spectrometry. Rapid Commun Mass Spectrom 1995;9:735-43.
23. Chang L-Y, Tang K, Schell M, Ringelberg C, Matteson KJ, Allman SL, et al. Detection of ΔF508 mutation of the cystic fibrosis gene by matrix-assisted laser desorption/ionization mass spectrometry. Rapid Commun Mass Spectrom 1995;9:772-4.
24. Sinha ND, Biernat J, McManus J, Köster H. Polymer support oligonucleotide synthesis: use of β-cyanoethanol-N,N-dialkyl-amino-/N-morpholinophosphoamidites of deoxynucleosides for the synthesis of DNA fragments simplifying deprotection and isolation of final product. Nucleic Acids Res 1984;12:4539-57.
25. Zielenski J, Rozmahel R, Bozon D, Kerem B-S, Grzelczak Z, Riordan JR, et al. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991;10:214-28.
26. Wu KJ, Steding A, Becker CH. Matrix-assisted laser desorption time-of-flight mass spectrometry of oligonucleotides using 3-hydroxypicolinic acid as an ultraviolet-sensitive matrix. Rapid Commun Mass Spectrom 1993;7:142-6.
27. Chu C-S, Trapnell BC, Curristin S, Cutting GR, Crystal RG. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nature Genet 1993;3:151-6.
28. Kirpekar F, Nordhoff E, Kristiansen K, Poepstorff P, Hahner S, Hillenkamp F. 7-Deaza purine bases offer a higher ion stability in the analysis of DNA by matrix-assisted laser desorption/ionization mass spectrometry. Rapid Commun Mass Spectrom 1995;9: 525-31.
29. Ferec C, Audrezet MP, Mercier B, Guillermit H, Mouiller P, Quere I, et al. Detection of over 98% cystic fibrosis mutations in a Celtic population. Nature Genet 1992;1:188-91.
30. Juhasz P, Roskey MT, Smirnov IP, Haff LA, Vestal ML, Martin SA. Applications of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry to oligonucleotide analysis. Anal Chem 1996;68:941-6.