Judson R, Stephens J C, Windemuth A
Genaissance Pharmaceuticals, New Haven, CT 06511, USA.
Pharmacogenomics. 2000 Feb;1(1):15-26. doi: 10.1517/14622416.1.1.15.
A variety of approaches have been proposed to find genetic markers that can be used in a clinical setting. Single nucleotide polymorphisms (SNPs) are the basis of the most commonly used approaches. Here we describe an approach using gene-based haplotypes, which are collections of SNPs located throughout the ftinctional regions of candidate genes, and organised as they occur separately on an individual's two chromosomes. The main point of this review is that the haplotype has greater power than any individual SNP to track an unobsenrved, but evolutionarily linked, variable site.
已经提出了多种方法来寻找可用于临床环境的基因标记。单核苷酸多态性(SNP)是最常用方法的基础。在这里,我们描述一种使用基于基因的单倍型的方法,单倍型是位于候选基因功能区域内的SNP集合,并且按照它们在个体两条染色体上的单独出现情况进行组织。本综述的重点是,单倍型比任何单个SNP更有能力追踪一个未观察到但在进化上相关的可变位点。