| 单核苷酸多态性在复杂性状疾病易感基因研究中的应用 |
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| 引用本文： | 陈蕊雯,孙树汉. 单核苷酸多态性在复杂性状疾病易感基因研究中的应用[J]. 第二军医大学学报, 2004, 25(2): 140-142 |
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| 作者姓名： | 陈蕊雯 孙树汉 |
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| 作者单位： | 第二军医大学基础医学部医学遗传学教研室,上海,200433;第二军医大学基础医学部医学遗传学教研室,上海,200433 |
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| 基金项目： | 第二军医大学校科研和教改项目 |
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| 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 polymorphisms, 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、TaqMan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(DHPLC)法和OLA/PCR 的SNPs基因分型方法的原理、通量和优缺点进行了比较;(3)SNPs与复杂性状疾病易感基因关联研究的策略.
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| 关 键 词： | 单核苷酸多态性 复杂性状疾病 易感基因 |
| 文章编号： | 0258-879X(2004)02-0140-03 |
| 修稿时间： | 2003-12-20 |
Single nucleotide polymorphism in studying complex diseases susceptibility gene |
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| CHEN Rui Wen,SUN Shu Han. Single nucleotide polymorphism in studying complex diseases susceptibility gene[J]. Former Academic Journal of Second Military Medical University, 2004, 25(2): 140-142 |
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| Authors: | CHEN Rui Wen SUN Shu Han |
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| Abstract: | 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. |
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| Keywords: | single nucleotide polymorphisms complex diseases susceptibility gene |
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