中国汉族人群Megsin基因变异与部分多态性位点鉴定  

Genovariation and identification of some polymorphism loci of Megsin gene in Chinese Han population

作　　者：夏运风[1] 李幼姬[1] 黄霜[2] 黄伟俊[2] 薛超[1] 杨念生[1] 黎嘉能[3] Patrick H Maxwell 王一鸣[2] 

机构地区：[1]中山大学附属第一医院肾内科,广东广州510080 [2]中山大学医学遗传学教研室,广东广州510080 [3]香港大学玛丽医院内科 [4]Department of Medicine,Hammersmith Hospital,Imperial College,London,UK

出　　处：《第四军医大学学报》2006年第6期544-547,共4页Journal of the Fourth Military Medical University

基　　金：美国中华医学基金资助项目(98-677);国家自然科学基金资助项目(30170434);广东省自然科学基金资助项目(20013140)

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.方法从基因库中挑选部分Megsin基因不同功能区域的单核苷酸多态性(SNP)位点,应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)和直接测序的方法,鉴定IgA肾病患者和正常对照组各位点基因型,计算各位点杂合度,根据杂合度大小和疾病组与正常对照组杂合度的差别,筛选适用于IgA肾病相关研究的多态性位点.结果在12个从基因库挑选的SNP位点中,6个在我国汉族人群中未发现具有多态性,6个具有多态性.在第5内含子发现两个新的SNP位点.在8个确实具有多态性的位点中,3个属少见多态,5个属常见多态,各SNP位点杂合度在IgA肾病组和正常对照组差异无显著性(P>0.05).结论中国汉族人群Megsin基因变异与基因库中高加索人群存在较大差异,这可能与中国汉族人群对IgA肾病的高发病率具有重要联系.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 reaction-restriction fragment length polymorphism （PCR-RFLP） 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 （P 〉 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.

关 键 词：MEGSIN 变异(遗传学) 肾小球肾炎 IgA 汉族 中国 多态性 单核苷酸 

分 类 号：R692.31[医药卫生—泌尿科学]