MALDI-TOF mass spectrometry-based SNP genotyping
MALDI-TOF mass spectrometry-based SNP genotyping
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DOI：
10.1517/14622416.3.4.537
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发表时间：
2002-07-01
期刊：
影响因子：
2.1
通讯作者：
Kostrzewa, M
中科院分区：
文献类型：
--
作者：
Pusch, W;Wurmbach, JH;Kostrzewa, M
近年来，由于SNP在工业和公共研究中的广泛使用，对简单而强大的SNP基因分型平台的需求日益增长。由此产生的关于基因型/表型相关性的知识对于鉴定潜在的新药物靶点和药物基因组学领域具有特殊的意义。然而，充分利用现有的基因组信息需要大量的SNP分析，因为必须对大量患者进行大量标记筛选。目前只有很少的SNP基因分型技术能够满足对样品吞吐量、自动化、准确性和成本效益的要求。MALDI-TOF质谱法有潜力发展成为高通量SNP基因分型的“金标准”——如果它还没有这样做的话。本文将重点介绍该技术的最新进展。
In recent years a growing demand for simple and robust SNP genotyping platforms has arisen from the widespread use of SNPs in industrial and public research. The resulting knowledge about genotype/phenotype correlations is of special interest for the identification of potential new drug targets and in the field of pharmacogenomics. However, full exploitation of the available genomic information requires vast numbers of SNP analyses, as large cohorts of patients have to be screened for a large number of markers. Only very few of the current SNP genotyping techniques can cope with the resulting demands concerning sample throughput, automation, accuracy and cost-effectiveness. MALDI-TOF mass spectrometry has the potential to develop into a 'Gold Standard' for high-throughput SNP genotyping - if it has not already done so. This review will focus on the latest developments of this technology.