MALDI-TOF MS: a platform technology for genetic discovery

作者: Dirk van den Boom , Martin Beaulieu , Paul Oeth , Rich Roth , Christiane Honisch

DOI: 10.1016/J.IJMS.2004.03.015

关键词:

摘要: Abstract Matrix-assisted laser desorption/ionization (MALDI) time-of-flight (TOF) mass spectrometry (MS) has been applied as a high-throughput platform technology for qualitative and quantitative nucleic acid analysis in the genetic discovery of target genes their biological validation. Mass spectrometric methods elucidation variability subsequent large-scale genotyping markers are exemplified. The use MALDI-TOF MS is described validation SNP DNA sample pools. Initial results genome-wide association studies employing this provided exemplifying genetics-driven approach to drug discovery.

参考文章(66)
David Altshuler, Joel N. Hirschhorn, Mia Klannemark, Cecilia M. Lindgren, Marie-Claude Vohl, James Nemesh, Charles R. Lane, Stephen F. Schaffner, Stacey Bolk, Carl Brewer, Tiinamaija Tuomi, Daniel Gaudet, Thomas J. Hudson, Mark Daly, Leif Groop, Eric S. Lander, The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nature Genetics. ,vol. 26, pp. 76- 80 ,(2000) , 10.1038/79216
Ann K. Daly, Christopher P. Day, Candidate gene case‐control association studies: advantages and potential pitfalls British Journal of Clinical Pharmacology. ,vol. 52, pp. 489- 499 ,(2001) , 10.1046/J.0306-5251.2001.01510.X
Philip Ross, Laura Hall, Igor Smirnov, Larry Haff, High level multiplex genotyping by MALDI-TOF mass spectrometry Nature Biotechnology. ,vol. 16, pp. 1347- 1351 ,(1998) , 10.1038/4328
M. Bittner, P. Meltzer, Y. Chen, Y. Jiang, E. Seftor, M. Hendrix, M. Radmacher, R. Simon, Z. Yakhini, A. Ben-Dor, N. Sampas, E. Dougherty, E. Wang, F. Marincola, C. Gooden, J. Lueders, A. Glatfelter, P. Pollock, J. Carpten, E. Gillanders, D. Leja, K. Dietrich, C. Beaudry, M. Berens, D. Alberts, V. Sondak, N. Hayward, J. Trent, Molecular classification of cutaneous malignant melanoma by gene expression profiling Nature. ,vol. 406, pp. 536- 540 ,(2000) , 10.1038/35020115
Andreas Braun, Daniel P Little, Hubert Köster, Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry Clinical Chemistry. ,vol. 43, pp. 1151- 1158 ,(1997) , 10.1093/CLINCHEM/43.7.1151
Hubert Köster, Kai Tang, Dong-Jing Fu, Andreas Braun, Dirk van den Boom, Cassandra L. Smith, Robert J. Cotter, Charles R. Cantor, A strategy for rapid and efficient DNA sequencing by mass spectrometry Nature Biotechnology. ,vol. 14, pp. 1123- 1128 ,(1996) , 10.1038/NBT0996-1123
Eric Lai, Clive Bowman, Aruna Bansal, Arlene Hughes, Michael Mosteller, Allen D. Roses, Medical applications of haplotype-based SNP maps: learning to walk before we run. Nature Genetics. ,vol. 32, pp. 353- 353 ,(2002) , 10.1038/NG1102-353
C. Ding, C. R. Cantor, A high-throughput gene expression analysis technique using competitive PCR and matrix-assisted laser desorption ionization time-of-flight MS. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 100, pp. 3059- 3064 ,(2003) , 10.1073/PNAS.0630494100
Michiho Nishioka, Takashi Kohno, Mina Takahashi, Toshiro Niki, Tesshi Yamada, Saburo Sone, Jun Yokota, Identification of a 428-kb homozygously deleted region disrupting the SEZ6L gene at 22q12.1 in a lung cancer cell line. Oncogene. ,vol. 19, pp. 6251- 6260 ,(2000) , 10.1038/SJ.ONC.1204031
Julian C. Knight, Brendan J. Keating, Kirk A. Rockett, Dominic P. Kwiatkowski, In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading. Nature Genetics. ,vol. 33, pp. 469- 475 ,(2003) , 10.1038/NG1124