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目的探讨Klotho基因rs139912465多态性与新疆地区维吾尔族人群草酸钙结石发病风险的相关性。方法采用聚合酶链式反应-限制性片段长度多态性分析(PCR-RFLP)方法检测128例新疆地区维吾尔族草酸钙结石患者(病例组)和94例正常人群(对照组)的Klotho基因多态性的基因型和等位基因的分布,并对比分析及相关性研究。结果检测Klotho基因SNP rs139912465一个位点,其基因型分布差异无统计学意义,等位基因分布差异无统计学意义(Or=1,95%CI:NA,P:NA),其中病例/对照组中等位基因频率分别为A=256(100.0%)/188(100%),G=0。结论 Klotho基因rs139912465多态性与新疆地区维吾尔族人群草酸钙结石发病无相关性,可能不是草酸钙结石发病的危险因子。
Objective To investigate the association between Klotho gene rs139912465 polymorphism and the incidence of oxalic stone in Xinjiang Uygur population. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphisms of Klotho gene in 128 Uygur patients with calcium oxalate stones (case group) and 94 normal controls (control group) Genotype and allele distribution, and comparative analysis and correlation studies. Results There was no significant difference in genotype distribution between SNPs rs139912465 of Klotho gene and allele distribution (Or = 1, 95% CI: NA, P: NA) The median allele frequencies were A = 256 (100.0%) / 188 (100%), G = 0, respectively. Conclusion The rs139912465 polymorphism of Klotho gene is not associated with the incidence of oxalic stone in Xinjiang Uygur population, which may not be the risk factor of calcium oxalate stone.