钙敏感受体(CaSR)基因986、990多态性与尿石症的相关性研究

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(P0.05),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(P0.05)。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。

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

ABSTRACT Objective: To investigate the relationship between the calcium sensitive receptor (CaSR) gene mononuclear acid polymorphism and the urinary calculi. Methods: 90 cases of urinary calculi patients and 90 healthy volunteers in Hei 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 nucleotide 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 genotype distribution frequency between the two groups (P > 0.05). But in the urinary calculi group, CaSR 990th GG homozygote was more frequency than RG heterozygote(P<0.05). Conclusion: In the exon 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 nucleotide polymorphisms in the exon 7 of CaSR might have close relationship with the formation of urinary calculi.