中国ADPKD患者PKD1基因突变位点检测  

PKD1 gene mutation detection in Chinese ADPKD patients

作　　者：萧畔[1] 丁克家[2] 高德轩[2] 曹庆伟[2] 

机构地区：[1]山东大学第二医院,山东济南250033 [2]山东省立医院

出　　处：《山东医药》2007年第21期1-2,共2页Shandong Medical Journal

基　　金：山东省自然科学基金资助项目(Y2002C12)

摘　　要：目的检测中国人PKD1基因突变位点,探讨其突变规律。方法采集38个家系的多囊肾患者病理标本(血样及组织)共43份,无病个体血样15份。提取基因组DNA,并采用聚合酶链反应法特异性扩增含PKD1基因的12、14、21外显子片段。扩增产物经分离纯化后用遗传分析仪进行基因测序,进入互联网基因库查找正常基因序列并与所测结果进行比较,分析测序结果。结果在外显子12检测到一个无义突变(C26017A),在外显子21检测到一个错义突变(A33849G)。多囊肾突变率为4.7%(2/43)。未发现突变热点。结论检测到2个新的可能的致病突变位点C26017A、A33849G。中国ADPKD人群PKD1基因不存在突变热点。[ Objective ] To find gene mutation point of Chinese ADPKD patients, and explore the rule. [ Methods ] Forty - three PKD1 - affected individuals specimens from thirty - eight unrelated families and fifteen controls were sampled. Genomic DNA was isolated and PCR amplification of genomic DNA was performed to generate aimed fragments. All amplified fragments were analyzed by sequencing and searching from genebank to make a comparison. [ Results] Aimed fragments of exon 12,14 and 21 were amplified and sequenced then analysised in Genebank. Two novel mutations were detected, including one nonsense mutation （C26017A） and one missense mutation（A33849G）. The mutation detection rate was 4. 7% （2/43）. Not hot mutation spot was found. [ Conclusion ] Two novel pathogenic mutations are detected, including one nonsense mutation（C26017A） and one missense mutation（A33849G）. No hot spots in PKD1 duplicated regions are detected in Chinese patients.

关 键 词：常染色体显性遗传性多囊肾病 PKD1基因 基因突变 

分 类 号：R692.1[医药卫生—泌尿科学]