钙敏感受体(CaSR)基因986、990多态性与尿石症的相关性研究  

Association between Calcium Sensitive Receptor(CaSR) Gene in 986,990 and Urinary Calculi

作　　者：谢坤[1] 夏成兴 耿波[1] 赵恩阳[1] 李学东[1] X XIA Cheng-xing GENG Bo ZHAO En-yang LI Xue-Dong(Wards Three, Department of Uropoiesis Surgury, the Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, 150001, China)

机构地区：[1]哈尔滨医科大学附属第二医院泌尿外科三病房,黑龙江哈尔滨150010

出　　处：《现代生物医学进展》2017年第10期1953-1956,共4页Progress in Modern Biomedicine

基　　金：黑龙江省自然科学基金项目(H201407)

摘　　要：目的:探讨钙敏感受体(Ca SR)基因单核昔酸多态性与泌尿系结石的关系。方法:选取90例黑龙江地区的泌尿系结石患者及90例健康对照者外周血标本中的基因组DNA,采用PCR(聚合酶链反应)结合DNA测序,检测并分析Ca SR基因的单核苷酸多态性位点的分布。结果:泌尿系结石组和对照组Ca SR基因第986位、990位频率分布符合Hardy-Weinberg定律,其基因型分布频率在泌尿系结石患者和健康对照者中差异无统计学意义(P>0.05),但在泌尿系结石患者组内Ca SR第990位GG纯合子和RG杂合子出现频率明显偏高,差异有统计学意义(P<0.05)。结论:Ca SR基因第7外显子第986、990多态性位点与泌尿系结石的形成无直接相关性,但第7外显子第990位A/G单核苷酸多态性可能与泌尿系结石的形成密切相关。Objective： To investigate the relationship between the calcium sensitive receptor （CaSR） gent mononuclear acid polymorphism and the urinary calculi. Methods： 90 cases of urinary calculi patients and 90 healthy volunteers in Hci Longjiang province were selected, the genomic DNA in peripheral blood specimens were detected by PCR （polymerase chain reaction） and DNA sequencing. Then the distribution of the single nuclcotide polymorphism loci of CaSR genes were detected and analyzed. Results： The frequency distributions of 986 and 990 genes in CaSR between Urinary calculi group with the control group were conformed to the Hardy-Weinberg＇s law. No statistically significant difference was found in the gcnotype distribution frequency between the two groups （P 〉 0.05）. But in the urinary calculi group, CaSR 990th GG homozygotc was more frequency than RG heterozygotc（P〈0.05）. Conclusions： In the cxon 7 of CaSR, the 986th and 990th gene polymorphic loci had no direct relationship with the formation of urinary calculi, but the 990th A/G single nuclcotidc polymorphisms in the cxon 7 of CaSR might have close relationship with the formation of urinary calculi.

关 键 词：钙敏感受体 泌尿系结石 单核苷酸多态性 

分 类 号：R692[医药卫生—泌尿科学]