单核苷酸多态概述

单核苷酸多态ＳＮＰ是遍布于基因组中的一种ＤＮＡ序列变化类型，人类基因组中平均约每一千碱基中有一个。单核苷酸多态是一种双等位型多态，群体中出现的频率大于１％或２％者视为多态，低于１％或２％的则视为突变。由于其具有高信息量、高密度又便于自动化操作的特点，单核苷酸多态在遗传性疾病基因的克隆和药物的设计与开发方面具有广阔的应用前景。本文对单核苷酸的概念、特点、应用前景，及其研究应用的一些问题作一综述。

An outline of single nucleotide polymorphisms

Single Nucleotide Polymorphisms (SNPs) are a common form of genome variations, distinguished from rare variations by a requirement for at least abundant allele to have a frequency of 2% or more. SNPs occur in human genome at a frequency of one every 1 000 bases. Because of the high dense and high information content , they became an effective genetic marker used in genetic analysis of simple and complex diseases, human population genetics, and pharmacogenomics. Present paper reviewed the concept and the potential application of the SNPs.