单核苷酸多态性基因分型的高通量方法。

High-throughput methods for SNP genotyping.

作者信息

Ding Chunming, Jin Shengnan

机构信息

Stanley Ho Centre for Emerging Infectious Diseases and Li Ka Shing Institute of Health Science, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong Special Administrative Region, Hong Kong, China.

出版信息

Methods Mol Biol. 2009;578:245-54. doi: 10.1007/978-1-60327-411-1_16.

DOI:10.1007/978-1-60327-411-1_16

PMID:19768599

Abstract

Single nucleotide polymorphisms (SNPs) are ideal markers for identifying genes associated with complex diseases for two main reasons. Firstly, SNPs are densely located on the human genome at about one SNP per approximately 500-1,000 base pairs. Secondly, a large number of commercial platforms are available for semiautomated or fully automated SNP genotyping. These SNP genotyping platforms serve different purposes since they differ in SNP selection, reaction chemistry, signal detection, throughput, cost, and assay flexibility. This chapter aims to give an overview of some of these platforms by explaining the technologies behind each platform and identifying the best application scenarios for each platform through cross-comparison. The readers may delve into more technical details in the following chapters.

摘要

单核苷酸多态性（SNPs）是用于识别与复杂疾病相关基因的理想标记，主要有两个原因。首先，SNPs在人类基因组中分布密集，大约每500 - 1000个碱基对就有一个SNP。其次，有大量商业平台可用于半自动或全自动SNP基因分型。这些SNP基因分型平台用途各异，因为它们在SNP选择、反应化学、信号检测、通量、成本和检测灵活性方面存在差异。本章旨在通过解释每个平台背后的技术，并通过交叉比较确定每个平台的最佳应用场景，从而对其中一些平台进行概述。读者可在后续章节深入了解更多技术细节。