多基因遗传病基因研究的策略和方法-张奎星.pdfVIP

200132 3 ·215 · ＊ 1,2 1 2 张奎星 　朱鼎良 　黄　薇 1 2 (, 200025;, 201203) 　基因在决定个体表型方面起着决定性的作用。虽然单基因疾病的致病基因的克隆工作取得 了显著的 展, 但对于多基因疾病来说, 仍然存在许多问题, 同时也是巨大的挑战。本文综述了多 基因疾病的遗传特点和多基因疾病易感基因识别、分离和克隆的 一般步骤和存在的问题,介绍了人 类基因组计划在此过程中的作用和单核苷酸多态性的应用前景,提出了最有可能克隆出多基因疾 病易感基因的策略和方法。 　多基因疾病;基因;单核苷酸多态性 　R394.5 1,2 Strategies and Methods to Identify Genes for Complex Diseases 　ZHANG Kui-Xing , ZHU Ding- 1 2 1 2 Liang , HUANG Wei (S hang hai I nst it ute of Hyp er tension, Shanghai 200025; Chinese H uman Genome Cen ter at S hanghai, Shanghai 201203) Abstract 　Genes underlie nu erous hu an diseases and traits.Although we have witnessed a great dealof success in identifying disease-susceptible genes, the task re ains challenging for ost of the co plex diseases.This paper reviews evidence for the role of geneticfactors in co plex diseases, and strategies that can potentially opti ize our chance of success in identifying genes involved in co plex diseases.Advances in olecular biology, particularly apping of the hu an geno e, statistical eth- ods that provide oreaccurate odels of co plex patterns of inheritance, and advances in basic edi- cal science, which have increased our understanding of disease pathophysiology, will ulti ately strengthen the ability of thecurrent generation of geneticepide iologicalstudies to identify the genetic basis of co plex hu an disorders. Key words　Co plex diseases;Gene;Single nucleotide poly orphis 　　, (susceptibility genes)。 , :(1) , ;(2) 。, ;(3)1/2 1/4 , , 1%～10%; 。 ;(4), ,。 ;(5) 、、、 ;(6)