摘要
大多数常见病都是一些复杂性状的遗传病 ,致病机制是由多个遗传易感基因与环境因素相互作用所致。目前认为一些常见的遗传变异 ,主要是指单核苷酸多态性 (single nucleotide polym orphisms,SNPs)与复杂性状疾病的易感有关。本文在以下几个方面对 SNPs与复杂性状疾病易感基因研究的策略和方法学问题作了较为详细的综述 :(1 ) SNP特点及其有关网上资源 ;(2 )对直接测序法、单碱基延伸法、Taq Man法、基于实时动态荧光 (动力学 ) PCR的等位基因特异扩增法 ,变性高效液相色谱 (DHPL C)法和 OL A/ PCR的 SNPs基因分型方法的原理、通量和优缺点进行了比较 ;(3)
Most diseases are complex genetic traits caused by multiple genetic and environmental components. It has been proposed that common genetic variations, mainly single nucleotide polymorphisms (SNPs), influence the susceptibility to complex diseases. We have conducted an extensive review on the characters of SNPs, the related website information, and the genotyping methods of SNPs such as direct sequencing, SnaPshot, Taqman, real time quantitative (kinetic) PCR with allele specific amplification, denaturing high performance liquid chromatography, and OLA/PCR.The strategies for studying the relation between SNPs and complex diseases susceptible genes were also reviewed.
出处
《第二军医大学学报》
CAS
CSCD
北大核心
2004年第2期140-142,共3页
Academic Journal of Second Military Medical University
基金
第二军医大学博士生创新基金资助项目( 0 3 0 8)