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目的探讨维生素D受体(VDR)基因FokI位点多态性与维吾尔族小儿尿路结石的关系。方法选择维吾尔族尿路结石患儿74例(病例组)及维吾尔族正常儿童103例(对照组),应用聚合酶链反应-限制性片段长度多态性分析VDR基因FokI位点多态性与维吾尔族小儿尿路结石的关系。结果病例组及对照组VDR基因Fo-kI位点基因型分布差异有统计学意义(χ2=7.818,P<0.05),基因型Ff占病例组58.1%,明显高于对照组。结论 VDR基因FokI位点多态性与维吾尔族小儿尿路结石有相关性,VDR基因FokI可能作为泌尿系结石的候选基因。
Objective To investigate the relationship between FokI polymorphism of vitamin D receptor (VDR) gene and urolithiasis in Uighur pediatric patients. Methods Totally 74 Uighur children with urolithiasis (case group) and 103 Uygur children (control group) were enrolled in this study. The polymorphisms of VDR gene Fokl site and the polymorphism of VDR gene were analyzed by polymerase chain reaction-restriction fragment length polymorphism Relationship between Urinary Stones and Uygur Children. Results The genotypes of Fo-kI locus of VDR gene in case group and control group were statistically different (χ2 = 7.818, P <0.05). The genotype Ff was 58.1% in case group, which was significantly higher than that in control group. Conclusion The FokI polymorphism of VDR gene is associated with Uighur pediatric urolithiasis. Vok gene FokI may be a candidate gene for urolithiasis.