Pusch W, Kraeuter K O, Froehlich T, Stalgies Y, Kostrzewa M
Bruker Daltonik GmbH, Bremen.
Biotechniques. 2001 Jan;30(1):210-5. doi: 10.2144/01301dd05.
Analysis of single nucleotide polymorphisms (SNPs) is a rapidly growing field of research that provides insights into the most common type of differences between individual genomes. The resulting information has a strong impact in the fields of pharmacogenomics, drug development, forensic medicine, and diagnostics of specific disease markers. The technique of matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF MS) has been shown to be a highly suitable tool for the analysis of DNA. It supplies a very versatile method for addressing a high-throughput SNP genotyping approach. Here, we present the Bruker genotools SNP MANAGER, a new software tool suitable for highly automated MALDI-TOF MS SNP genotyping. The genotools SNP MANAGER administers the sample preparation data, calculates masses of allele-specific primer extension products, performs genotyping analysis, and displays the results. In the current study, we have used the genotools SNP MANAGER to perform an automated duplex SNP analysis of two biallelic markers from the promoter of the gene encoding the inflammatory mediator interleukin-6.
单核苷酸多态性（SNP）分析是一个快速发展的研究领域，它能深入了解个体基因组之间最常见的差异类型。所得信息在药物基因组学、药物开发、法医学以及特定疾病标志物诊断等领域具有重大影响。基质辅助激光解吸/电离飞行时间质谱（MALDI-TOF MS）技术已被证明是分析DNA的高度适用工具。它为实现高通量SNP基因分型方法提供了一种非常通用的方法。在此，我们介绍布鲁克基因分型工具SNP管理器，这是一种适用于高度自动化MALDI-TOF MS SNP基因分型的新软件工具。基因分型工具SNP管理器管理样品制备数据，计算等位基因特异性引物延伸产物的质量，进行基因分型分析并显示结果。在当前研究中，我们使用基因分型工具SNP管理器对编码炎症介质白细胞介素-6的基因启动子中的两个双等位基因标记进行了自动双链SNP分析。
