摘要
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 determine the relationship between polymorphism of vitamin D receptor (VDR) allele with idiopathic hypercalciuria. Method:We screened out 36 patients who suffered from idiopathic hypercalciuria according to assay of urine calcium. The polymorphisms of VDR gene Taq 1, Apa1 and Fok I were detected using PCR-RFLP technique and the correlation was analyzed between the polymorphism and idiopathic hypercalciuria.Results:The difference in each genotypic frequency of the allele of promoter Fok I between idiopathic hypercalciuria group and health group was significant. The 24 hours' urine calcium content of those who have genotype ff was obviously higher than that of those who have other genotypes in the same group. There was no significant difference in the polymorphism of gene Apa1 and Taq1 between two groups. Conclusion:Idiopathic hypercalciuria is related to the polymorphism of VDR gene's promoter Fok I allele, but has nothing to do with the polymorphism of gene Apa1 and Taq1. The genotype ff is hoped to become the heredity mark of idiopathic hypercalciuria.
出处
《中国现代医学杂志》
CAS
CSCD
2003年第4期4-6,9,共4页
China Journal of Modern Medicine
基金
国家自然科学基金 (3 0 2 0 0 2 83 )资助
