生物多样性 ›› 2003, Vol. 11 ›› Issue (5): 370-382.DOI: 10.17520/biods.2003045

• 论文 • 上一篇    下一篇

新一代分子标记——SNPs及其应用

邹喻苹,葛颂   

  1. (中国科学院植物研究所系统与进化植物学重点实验室,北京 100093)
  • 收稿日期:2003-04-09 修回日期:2003-06-19 出版日期:2003-09-20 发布日期:2003-09-20
  • 通讯作者: 邹喻苹

A novel molecular marker—SNPs and its application

ZOU Yu-Ping, GE Song   

  1. Laboratory of Systematic and Evolutionary Botany,Institute of Botany,Chinese Academy of Sciences,Beijing 100093
  • Received:2003-04-09 Revised:2003-06-19 Online:2003-09-20 Published:2003-09-20
  • Contact: ZOU Yu-Ping

摘要:

单核苷酸多态性(SNPs)是广泛存在于基因组中的一类DNA序列变异,其频率为1%或更高。它是由单个碱基的转换或颠换引起的点突变,稳定而可靠,并通常以二等位基因的形式出现。采用生物芯片和DNA微阵列技术来检测SNP,便于对基因组进行大幅度和高通量分析。因此,作为新一代分子标记,SNP在生物学诸多领域具有广阔应用前景。本文简要叙述SNPs技术的发展历史、研究动态以及相关的理论,介绍了与SNPs相关的基本术语、概念及其特点,列举了发现与检测SNPs主要技术的原理和方法,同时还根据一些具体实例介绍了SNPs在模式动、植物遗传图谱构建、品种鉴定、物种起源与亲缘关系、连锁不平衡与关联分析及其在群体遗传结构及其变化机制研究中的应用。最后展望了SNPs在群体遗传、分子育种和生物进化等研究领域中的应用前景。

Abstract: Single nucleotide polymorphisms (SNPs) are an abundant form of DNA variation which have a frequency of 1% or more throughout the genomes. SNPs consist of a single nucleotide base alteration including transition and transversion. They are stable and reliable mutation and are frequently referred to as bi-allelic makers. SNPs can be used conveniently for large-scale and high throughput genome analysis, in particular combining DNA chips and microarrays techniques. Therefore, SNPs provide a novel molecular marker system potentially useful for a wide range of biological disciplines. Here we briefly introduce the history and developments of SNP techniques, including its basic concept, its discovery and screening. We also discuss its applications in different research areas such as genetic mapping in mode animals and plants, DNA fingerprinting and its application in variety identification, species origin and relationship, linkage disequilibrium and associate analysis, and its application in population genetics. We anticipate that SNP markers will contribute greatly to the studies on population genetics, molecular breeding as well as evolutionary biology.