维吾尔族人群TRPV5基因多态性与肾结石数量及复发的关系

发布时间：2018-03-17 03:12

本文选题：瞬时受体电位香草酸亚型　切入点：含钙肾结石　出处：《山东医药》2016年30期 　论文类型：期刊论文

【摘要】：目的探讨维吾尔族人群中瞬时受体电位香草酸亚型5(TRPV5)基因多态性与肾结石的多发及复发的相关性。方法选择肾结石患者366例,均为维吾尔族,包括单发结石(只含有1个肾结石)患者198例、多发结石(含有2个及2个以上肾结石)患者168例。抽取患者静脉血,提取DNA,采用Taq Man技术检测TRPV5基因rs4236480位点基因多态性。以6个月内发生2次或2次以上肾结石症状为复发性肾结石,以6个月内未再发生肾结石者为非复发性肾结石,分析TRPV5基因rs4236480位点多态性与肾结石数量及发作次数的关系。结果 366例患者中出现TRPV5基因野生型CC 224例、突变型CT 136例、突变型TT 6例。TT+CT基因型患者多发肾结石的发生率高于CC基因型患者(P0.05)。TRPV5基因rs4236480位点多态性与含钙肾结石患者的发作次数无明显关系(P0.05)。结论 TRPV5基因rs4236480位点发生TT+CT基因型突变的维吾尔族患者发生多发肾结石的风险高于CC基因型维吾尔族患者,TRPV5基因rs4236480位点多态性与维吾尔族人群肾结石复发无关。
[Abstract]:Objective to investigate the association between the polymorphism of transient receptor potential V V V 5 gene and the recurrence of renal calculi in Uygur population. Methods 366 patients with renal calculi were selected, all of them were Uygur. Including 198 patients with single stone (only one kidney stone) and 168 patients with multiple calculi (containing 2 or more kidney stones). DNA was extracted and the polymorphism of rs4236480 locus of TRPV5 gene was detected by Taq Man technique. The symptoms of renal calculi occurred twice or more within 6 months as recurrent renal calculi, and those who did not occur again within 6 months were found to be non-recurrent renal calculi. The relationship between the polymorphism of rs4236480 locus of TRPV5 gene and the number and frequency of renal calculi was analyzed. Results among the 366 patients, the wild-type CC of TRPV5 gene was found in 224 cases, and the mutation type of CT in 136 cases. The incidence of multiple renal calculi in 6 patients with mutant TT. TT CT genotype was higher than that in CC genotype patients. There was no significant correlation between the polymorphism of rs4236480 locus of TRPV5 gene and the number of episodes in patients with calcium containing renal calculi. Conclusion the occurrence of TT at rs4236480 site of TRPV5 gene is not significant. The risk of multiple renal calculi in Uygur patients with CT genotype mutation was higher than that in CC genotype Uygur patients. The rs4236480 polymorphism of TRPV5 gene was not associated with the recurrence of renal calculi in Uygur population.
【作者单位】：新疆维吾尔自治区人民医院;
【基金】：新疆维吾尔自治区人民医院院内项目(20140304)
【分类号】：R692.4

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