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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.
Objective To understand the genetic variation of Megsin gene in Chinese Han population and to identify some polymorphic loci and screen for polymorphism sites suitable for IgA nephropathy related research.Methods Select some single nucleotide Polymorphism (SNP) was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing method to identify IgA nephropathy patients and normal control group at each locus genotypes, calculate each site According to the degree of heterozygosity and heterozygosity of the disease group and the normal control group, the polymorphism sites suitable for IgA nephropathy study were screened.Results Of the 12 SNP sites selected from the gene bank, 6 were in the Polymorphism was not found in Han population in our country and polymorphism was found in 6, and two new SNP sites were found in intron 5. Of the 8 polymorphic sites, 3 were rare There were no significant differences in the heterozygosity of each SNP loci between IgA nephropathy group and normal control group (P> 0.05) .Conclusion The genetic variation of Megsin between Chinese Han population and the Caucasian population in gene pool is significant Differences, which may be related to IgA kidneys in Chinese Han populations The high incidence of important contact.