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维生素D受体基因TaqⅠ和ApaⅠ位点单核苷酸多态性与特发性低枸橼酸尿症关系的研究
引用本文:朱晨曦,叶章群,刘冠林,吴钉,邹义华,陈志强.维生素D受体基因TaqⅠ和ApaⅠ位点单核苷酸多态性与特发性低枸橼酸尿症关系的研究[J].临床泌尿外科杂志,2008,23(11):831-833.
作者姓名:朱晨曦  叶章群  刘冠林  吴钉  邹义华  陈志强
作者单位:华中科技大学同济医学院附属同济医院泌尿外科,武汉,430030
摘    要:目的:探讨维生素D受体(VDR)基因TaqⅠ和ApaⅠ位点单核苷酸多态性与特发性低枸橼酸尿症的关系及其临床意义。方法:实验筛选出无特发性低枸橼酸尿症者50名及特发性低枸橼酸尿症患者21名.通过PCR—RFLP技术检测VDR基因TaqⅠ及ApaⅠ位点单核苷酸多态性,并分析其与特发性低枸橼酸尿症之间的相关性。结果:两组间VDR基因ApaⅠ位点各基因型频率差异无统计学意义(P〉0.05);而TaqⅠ各基因型频牢差异有统计学意义(P〈0.05).在特发性低枸橼酸尿症患者组中TT型较为多见。且两组人群中基因型为TT者21h尿枸橼酸含量明显低于同组的其他基因型(P〈0.05)。结论1特发性低枸橼酸尿症与VDR—TaqⅠ单核降酸多态性间存在遗传相关性,而与VDR ApaⅠ单核苷酸多态性关系不明显。VDR基因TaqⅠ位点的TT型基因有望成为特发性低枸橼酸尿症的遗传标志基因。

关 键 词:维生素D受体基因  单核苷酸多态性  特发性低枸橼酸尿症

Association between TaqI vitamin D receptor gene polymorphism and idiopathic hypocitraturia
ZHU Chenxi,YE Zhangqun,LIU Guanlin,WU Ding,ZOU Yihua,CHEN Zhiqiang.Association between TaqI vitamin D receptor gene polymorphism and idiopathic hypocitraturia[J].Journal of Clinical Urology,2008,23(11):831-833.
Authors:ZHU Chenxi  YE Zhangqun  LIU Guanlin  WU Ding  ZOU Yihua  CHEN Zhiqiang
Institution:1Department of Urology;Tongji Hospital;Tongji Medical College;Huazhong University of Science and Technology;Wuhan;430030;China
Abstract:Objective:To investigate the relationship between TaqI vitamin D receptor(VDR)and ApaI vitamin D receptor polymorphism and idiopathic hypocitraturia repectively,and to evaluate it's clinical significance.Methods:75 volunteers were divided into 2 groups:50 volunteers with normal urine citrate(N);25 volunteers with idiopathic hypocitraturia(L).The polymorphisms of TaqI vitamin D receptor and ApaI vitamin D receptor were detected using PCR-RFLP technique and correlations were analyzed among these 2 groups each...
Keywords:Vitamin D receptor gene  Polymorphism  Idiopathic hypocitraturia  
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