本文選題：瞬時(shí)受體電位香草酸亞型　切入點(diǎn)：含鈣腎結(jié)石　出處：《山東醫(yī)藥》2016年30期 　論文類型：期刊論文

【摘要】：目的探討維吾爾族人群中瞬時(shí)受體電位香草酸亞型5(TRPV5)基因多態(tài)性與腎結(jié)石的多發(fā)及復(fù)發(fā)的相關(guān)性。方法選擇腎結(jié)石患者366例,均為維吾爾族,包括單發(fā)結(jié)石(只含有1個(gè)腎結(jié)石)患者198例、多發(fā)結(jié)石(含有2個(gè)及2個(gè)以上腎結(jié)石)患者168例。抽取患者靜脈血,提取DNA,采用Taq Man技術(shù)檢測(cè)TRPV5基因rs4236480位點(diǎn)基因多態(tài)性。以6個(gè)月內(nèi)發(fā)生2次或2次以上腎結(jié)石癥狀為復(fù)發(fā)性腎結(jié)石,以6個(gè)月內(nèi)未再發(fā)生腎結(jié)石者為非復(fù)發(fā)性腎結(jié)石,分析TRPV5基因rs4236480位點(diǎn)多態(tài)性與腎結(jié)石數(shù)量及發(fā)作次數(shù)的關(guān)系。結(jié)果 366例患者中出現(xiàn)TRPV5基因野生型CC 224例、突變型CT 136例、突變型TT 6例。TT+CT基因型患者多發(fā)腎結(jié)石的發(fā)生率高于CC基因型患者(P0.05)。TRPV5基因rs4236480位點(diǎn)多態(tài)性與含鈣腎結(jié)石患者的發(fā)作次數(shù)無(wú)明顯關(guān)系(P0.05)。結(jié)論 TRPV5基因rs4236480位點(diǎn)發(fā)生TT+CT基因型突變的維吾爾族患者發(fā)生多發(fā)腎結(jié)石的風(fēng)險(xiǎn)高于CC基因型維吾爾族患者,TRPV5基因rs4236480位點(diǎn)多態(tài)性與維吾爾族人群腎結(jié)石復(fù)發(fā)無(wú)關(guān)。
[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.
【作者單位】： 新疆維吾爾自治區(qū)人民醫(yī)院;
【基金】：新疆維吾爾自治區(qū)人民醫(yī)院院內(nèi)項(xiàng)目(20140304)
【分類號(hào)】：R692.4

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