【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.更多还原

【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 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.更多还原