摘要
单核苷酸多态性(SNP)是继微卫星后第三代DNA遗传标记。近年来已鉴别出大量疾病的易患基因与位点,然而由于传统统计学方法的不足,加大了假阳性结论产生的概率。为解决这一问题,研究者们应用质粒转染、电泳移动漂移实验以及染色质免疫沉淀等技术从大量潜在的易患位点中鉴别出许多真正具有功能的SNP位点。现以结构基因中SNP所在位置进行分类,从影响基因表达以及改变蛋白质功能等方面出发,对各SNP功能研究方法进行总结。
The single nucleotide polymorphism（SNP）is the third generation of DNA genetic marker after microsatellites.More and more disease-susceptibility genes and loci have been identified as the basis of SNP.However,because the traditional statistical methods may generate a number of false-positive results,which increased the probability of wrong conclusions.To solve this problem,the researchers have used many techniques including the plasmid transfection,EMSA and ChIP to identify the real functional SNPs from the candidate loci.Here is to make a review on all the methods for SNP function research in recent year according to the SNP positions in structural genes and the SNP effect.
出处
《医学综述》
2013年第3期385-388,共4页
Medical Recapitulate
基金
国家重点基础研究发展计划(973计划)项目子项目(2005CB522407)
国家青年科学基金项目(30901240)
关键词
单核苷酸多态性
功能研究
疾病易患性
Single nucleotide polymorphism
Functional study
Susceptibility
