通过基于芯片的基质辅助激光解吸/电离飞行时间质谱对全基因组基因单核苷酸多态性标记物集合进行高通量开发与表征。
High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
作者信息
Buetow K H, Edmonson M, MacDonald R, Clifford R, Yip P, Kelley J, Little D P, Strausberg R, Koester H, Cantor C R, Braun A
机构信息
Laboratory of Population Genetics, Division of Cancer Epidemiology and Genetics, and Office of Genomics, National Cancer Institute, Bethesda, MD 20892-5060, USA.
出版信息
Proc Natl Acad Sci U S A. 2001 Jan 16;98(2):581-4. doi: 10.1073/pnas.98.2.581. Epub 2001 Jan 2.
Abstract
We describe here a system for the rapid identification, assay development, and characterization of gene-based single nucleotide polymorphisms (SNPs). This system couples informatics tools that mine candidate SNPs from public expressed sequence tag resources and automatically designs assay reagents with detection by a chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry platform. As a proof of concept of this system, a genomewide collection of reagents for 9,115 gene-based SNP genetic markers was rapidly developed and validated. These data provide preliminary insights into patterns of polymorphism in a genomewide collection of gene-based polymorphisms.
摘要
我们在此描述一种用于基于基因的单核苷酸多态性（SNP）的快速鉴定、分析方法开发及特征描述的系统。该系统将信息学工具相结合，这些工具可从公共表达序列标签资源中挖掘候选SNP，并自动设计分析试剂，通过基于芯片的基质辅助激光解吸/电离飞行时间质谱平台进行检测。作为该系统概念验证，快速开发并验证了针对9115个基于基因的SNP遗传标记的全基因组试剂集。这些数据为全基因组基于基因的多态性集合中的多态性模式提供了初步见解。
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