IgA肾病候选基因单核苷酸多态性的搜寻和确定

目的 通过搜寻IgA肾病(IgAN)候选的megsin和P选择素基因单核苷酸多态性(SNPs)并分析其特点，为进行IgAN病例-对照相关研究提供重要资料。 方法 采用PCR产物直接测序法，对中国汉族人24份标本(12例IgAN，12例正常对照者)两个候选基因中所有启动子区、编码区及其部分调控区和外显子-内含子连接区域13 591 bp进行检测，开展SNPs筛查。 结果 经过对测序结果统计分析，共发现SNPs 27个，其中SERPINB7基因11个，SELP基因16个；平均分布密度为503 bp/SNP。在我们发现的27个SNPs中，共有10个SNPs在GenBank中尚未报道过，占27个SNPs的37%。 结论 本检测为进一步行IgAN病例-对照相关研究及建立中国人群基因序列变异的自主知识产权提供了有用信息。

Search and confirmation of single nucleotide polymorphism in susceptibility genes for IgA nephropathy

Objective To search the susceptibility candidate megsin gene and P-selectin gene of IgA nephropathy by detecting single nucleotide polymorphism (SNP) and to provide important data for subsequent case-control association study. Methods A comprehensive survey was performed on 12 sporadic IgAN patients and 12 normal controls ,who were from Shanghai, Jiangsu and Zhejiang Han populations, by direct sequencing. 13 591 bp of genomic sequence, including entire coding region, promoter region, part of regulatory region, and exon-intron connection region, was assayed to detect SNPs. Results After the results of sequencing were analyzed, 11 SNPs in SERPINB7 gene and 16 in SELP gene were identified in a total of 27 SNPs, with an average frequency of 1SNP per 503 bp. Ten SNPs, 37% of 27 SNPs, had not been reported in GenBank. Conclusion Our findings not only provide important data for subsequent case-control association study,but also are beneficial to genetic variation bank of Chinese population.