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目的 :探讨维生素D受体 (VDR)等位基因多态性与特发性高钙尿症的关系 ,并分析其临床意义。方法 :筛选 36例特发性高钙尿症患者 ,采用PCR -RFLP法检测其VDR基因的Taq1、Apa1、FokⅠ多态性 ,并分析其与特发性高钙尿症的相关性。结果 :特发性高钙尿症组与健康组之间 ,启动子FokⅠ等位基因各基因型频率存在显著性差异 (P <0 .0 5 ) ,基因型为ff型者 2 4h尿钙含量显著高于同组的其它基因型 (P <0 .0 5 )。Apa1、Taq1基因多态性在两组之间并无显著差异。结论 :特发性高钙尿症与VDR基因启动子Fok1等位基因多态性有关 ,而与VDR基因Apa1和Taq1多态性无关 ,ff型等位基因有可能成为特发性高钙尿症的遗传标志基因。
Objective: To investigate the relationship between polymorphism of vitamin D receptor (VDR) alleles and idiopathic hypercalciuria and analyze its clinical significance. Methods: Thirty-six patients with idiopathic hypercalciuria were screened. The PCR-RFLP method was used to detect the Taq1, Apa1, FokⅠ polymorphisms of VDR gene and its association with idiopathic hypercalciuria. Results: There was a significant difference in genotype frequency of Fok Ⅰ allele between idiopathic hypercalciuria group and healthy group (P <0.05), genotype ff 24 h urine calcium content Significantly higher than other genotypes in the same group (P <0.05). Apa1, Taq1 gene polymorphism in the two groups did not differ significantly. Conclusions: Idiopathic hypercalciuria is associated with the Fok1 allele polymorphism of VDR gene promoter, but not with VDR gene Apa1 and Taq1 polymorphisms. The ff allele may be idiopathic hypercalciuria Genetic marker gene.