摘要目的 探讨人尿酸盐阴离子交换器(hURAT1)基因启动子-45位C→G突变与原发性高尿酸血症的相关性.方法 对217例原发性高尿酸血症患者(UA组)及491例健康对照者(CON组)应用PCR技术扩增目的 片段,PCR产物以限制性内切酶Mva I进行酶切后行20%聚丙烯酰胺凝胶电泳分离.结果 (1)UA组病人G等位基因和CG基因型频率显著高于CON组(P分别为0.031,0.031).(2)所有入组者具有CG基因型者(突变型)血尿酸(UA)及甘油三酯(TG)明显高于CC基因型(野生型)(t=3.058,3.699,P<0.01),总胆固醇(TC)、空腹血糖(FPG)、尿素氮(BUN)、肌酐(Cr)2组间差异无统计学意义(P>0.05).结论 hURAT1基因启动子-45位C→G突变可能与原发性高尿酸血症有关.

abstractsObjective To investigate the association between -45C→G mutation at promoter of human urate transporter 1 gene and primary hyperuricemia. Methods The allele frequency and genotypo distribution of -45 C→G mutation at promoter of human urate trans-porter 1 gene were determined by PCR-RFLP in 217 patients with primary hyperuricemia and 419 normal controls. Results The frequencies of the G allele and CG genotype at promoter of human urate transporter 1 gene in patients were significantly higher than that in normal controls (P = 0. 031, P = 0.031). The levels of serum uric acid (UA) and triglyceride (TG) in subjects of CG genotype were significantly higher than those in the objects of CC genotype(t=3.058, t=3.699, P=0.002, P<0.001). There were no significant difference in the levels of total cholesterol (TC), fasting plasma glucose (FPG), urea nitrogen (BUN), creatinine (Cr) between the two groups (P>0.05). Conclusion The -45 C→G mutation at promoter of human urate transporter 1 gene may be related to primary hyperuricemia.