面向所有人的基因分型技术。

Genotyping technologies for all.

作者信息

Ragoussis Jiannis

机构信息

Genomics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK OX3 7BN.

出版信息

Drug Discov Today Technol. 2006 Summer;3(2):115-22. doi: 10.1016/j.ddtec.2006.06.013.

DOI:10.1016/j.ddtec.2006.06.013

PMID:24980397

Abstract

Three and a half million single nucleotide polymorphisms are now publicly available through the International HapMap project, enabling genetic and pharmacogenetic studies involving whole genome or comprehensive candidate gene association approaches. The cost/genotype for these studies has been driven down to levels unimagined only a few years ago albeit under particular conditions. Here, eight commonly used commercially available genotyping assays (TaqMan, SNPstream, SNPlex, hME/iPLEX, MIP, GenChip, Goldengate, Infinium I and II) are briefly presented and their particular strengths and weaknesses as well as their suitability for particular types of studies and the related costs are also discussed.:

摘要

通过国际人类基因组单体型图计划，现在已有350万个单核苷酸多态性信息可供公众使用，这使得涉及全基因组或全面候选基因关联方法的遗传和药物遗传学研究成为可能。尽管是在特定条件下，但这些研究的每个基因型成本已降至仅几年前还无法想象的水平。在此，简要介绍了八种常用的商业基因分型检测方法（TaqMan、SNPstream、SNPlex、hME/iPLEX、MIP、基因芯片、GoldenGate、Infinium I和II），并讨论了它们各自的优缺点、对特定类型研究的适用性以及相关成本。