MALDI-TOF MS: a platform technology for genetic discovery

被引：15
|
作者：
van den Boom, D [1 ]
Beaulieu, M [1 ]
Oeth, P [1 ]
Roth, R [1 ]
Honisch, C [1 ]
Nelson, MR [1 ]
Jurinke, C [1 ]
Cantor, C [1 ]
机构：
[1] SEQUENOM Inc, San Diego, CA 92121 USA
来源：
INTERNATIONAL JOURNAL OF MASS SPECTROMETRY | 2004年 / 238卷 / 02期
关键词：
MALDI-TOF MS; genetic discovery; genotyping; whole genome association study;
D O I：
10.1016/j.ijms.2004.03.015
中图分类号：
O64 [物理化学（理论化学）、化学物理学]; O56 [分子物理学、原子物理学];
学科分类号：
070203 ; 070304 ; 081704 ; 1406 ;
摘要：
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 and their biological validation. Mass spectrometric methods for the elucidation of genetic variability and for subsequent large-scale genotyping of genetic markers are exemplified. The use of quantitative MALDI-TOF MS is described for large-scale validation of SNP markers and their analysis in DNA sample pools. Initial results of genome-wide association studies employing this technology are provided exemplifying a genetics-driven approach to drug discovery. (C) 2004 Elsevier B.V. All rights reserved.
引用
收藏
页码：173 / 188
页数：16
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