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目的:探讨维生素D受体(VDR)等位基因多态性与草酸钙尿结石之间的关系。方法:收集90例维吾尔族泌尿系结石患者(病例组)和90例维吾尔族正常对照者(对照组)。采用聚合酶链反应(PCR)和限制性酶切法研究VDR的ApaⅠ、FokⅠ等位基因多态性与尿结石之间的关系。结果:病例组与对照组之间FokⅠ酶切位点FF、Ff、ff3种基因型频率的差异有统计学意义(χ2=8.28,P<0.001),基因型FF在病例组占43.3%,明显高于对照组(30.0%),差异有显著性;ApaⅠ酶切位点病例组和正常对照组AA、Aa、aa3种基因型频率的差异有统计学意义(χ2=14.22,P<0.001),基因型Aa在病例组占63.3%,明显高于对照组(35.6%),差异亦有显著性。协同分析ApaⅠ和FokⅠ与泌尿系结石之间的关系,发现病例组FF/Aa基因型明显高于对照组,差异有显著性,病例组Ff/aa基因型明显低于对照组,差异亦有显著性。结论:VDR基因多态性与泌尿系结石有关,FF/Aa基因型可能是泌尿系结石的易感基因,而Ff/aa基因型则是泌尿系结石的保护基因。VDRFokI基因多态性有望成为筛选和检测泌尿系结石的一个指标。
Objective: To investigate the relationship between vitamin D receptor (VDR) allele polymorphism and calcium oxalate urolithiasis. Methods: 90 Uighur urolithiasis patients (case group) and 90 Uighur normal controls (control group) were collected. Polymerase chain reaction (PCR) and restriction enzyme digestion were used to study the relationship between Apa I and Fok I alleles and urolithiasis in VDR. Results: There were significant differences in the genotype frequencies of FF, Ff and ff between the case group and the control group (χ2 = 8.28, P <0.001), and genotype FF accounted for 43.3% of cases (P <0.001). There was a significant difference in AA, Aa and AA genotype frequencies between ApaⅠ site and normal control group (χ2 = 14.22, P <0.001) Genotype Aa in the case group accounted for 63.3%, significantly higher than the control group (35.6%), the difference was also significant. Collaborative analysis of the relationship between Apa I and Fok I and urinary calculi showed that FF / Aa genotype was significantly higher in the case group than in the control group, the difference was significant, and the genotype of Ff / aa in the case group was significantly lower than that in the control group Sex. CONCLUSION: VDR gene polymorphism is associated with urolithiasis. FF / Aa genotype may be a susceptible gene for urolithiasis, whereas Ff / aa genotype is a protective gene for urolithiasis. VDRFokI gene polymorphism is expected to become an indicator of screening and detection of urinary stones.