中国汉族人群Megsin基因变异与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

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