中国汉族人群Megsin基因变异及部分多态性位点鉴定.docVIP

中国汉族人群Megsin基因变异及部分多态性位点鉴定 　 作者：夏运风，李幼姬,黄霜，黄伟俊，薛超，杨念生，黎嘉能，Patrick H Maxwell，王一鸣 【关键词】 肾小球肾炎 　Genovariation and identification of some polymorphism loci of Megsin gene in Chinese Han population 　　XIA YunFeng, LI YouJi, HUANG Shuang, HUANG WeiJun, XUE Chao, YANG NianSheng, Lai Kar N, Patrick H Maxwell, WANG YiMing 　　1Department of Nephrology, First Affiliated Hospital, 2Department of Medical Genetics, Sun Yatsen University, Guangzhou 510080, China, 3Department of Internal Medicine, Queen Marry Hospital, University of Hong Kong, Hong Kong, China, 4Department of Medicine, Hammersmith Hospital, Imperial College, London, UK 　　【Abstract】 AIM: To investigate the genovariation of Megsin in Chinese Han population and to identify some single nucleotide polymorphism (SNP) suitable for the association study in IgA nephropathy (IgAN). METHODS: SNPs of Megsin gene were chosen from different functional regions according to GenBank. Their genotypes in IgAN patients and normal controls were determined by polymerase chain reactionrestriction fragment length polymorphism (PCRRFLP) and direct sequencing. Heterozygosity of each SNP was calculated and compared between IgAN patients and normal controls. RESULTS: In the 12 SNPs chosen from GenBank, 6 were confirmed with polymorphism and 6 were found not with polymorphism. Two novel SNPs were found in the fifth intron of Megsin gene by direct sequencing. In 8 SNPs, 3 were with heterozygosity, less than 10% and 5 more than 10%, but no statistical difference was found in heterozygote percentages between IgAN patients and normal controls（Pgt;0.05）.CONCLUSION: There is much difference in genovariation of Megsin between Chinese Han population and Caucasian population, which may be associated with the high incidence of IgAN in Chinese Han population. 　　【Keywords】 megsin; variation (genetics); glomerulonephritis, IgA; Han nationality; China; polymorphism, single nucleotide 　　【摘要】 目的： 了解中国汉族人群Megsin基因变异，并对部分多态性位点进行鉴定，筛选适合IgA肾病相关研究的多态性位点. 方法： 从基因库