IgA肾病候选基因单核苷酸多态性的搜寻和确定  

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

作　　者：王朝晖[1] 陈楠[1] 王伟铭[1] 潘晓霞[1] 陈晓农[1] 张文[1] 陆颖[2] 韩斌[2] 

机构地区：[1]上海交通大学医学院附属瑞金医院肾内科,200025 [2]中国科学院国家基因研究中心

出　　处：《中华肾脏病杂志》2006年第5期282-285,共4页Chinese Journal of Nephrology

基　　金：上海市科委重大项目(03JC14084)上海市卫生局领先专业重点学科基金(983009)上海第二医科大学自然科学基金(02XJ21018)上海市重点学科(T0201)

摘　　要：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。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.

关 键 词：肾小球肾炎 IgA 疾病遗传易感性 多态性 单核苷酸 P选择素 MEGSIN 

分 类 号：R692.3[医药卫生—泌尿科学]