【摘要】 目的探讨中国人群高尿酸血症患者TNF-α启动子区-308位点多态性、-238位点基因多态性与HUA及其代谢表型的关联。方法高尿酸血症患者188例,正常人51例,应用聚合酶链反应-限制性片段长度多态性分析方法,检测TNF-a基因启动子区-308G/A单核苷酸多态性位点基因型;尿酸酶法测血尿酸,葡萄糖氧化酶法测快速血糖。比色法测总胆固醇和甘油三酯,高密度脂蛋白胆固醇由选择性抑制法测定。上述化验均在血样提取后3h内完成。-20℃保存血样以便测定胰岛素浓度,免疫放射测定法测得胰岛素。随机选择高尿酸血症患者35例,正常人39例,同样方法检测TNF-a基因启动子区-238G/A单核苷酸多态性位点基因型及各生化指标。结果对两位点单核苷酸多态性分析发现,高尿酸血症组-308位点AA+GA分布频率(23.94%)明显高于对照组(11.76%)(P=0.0001);-238位点的GG和GA基因型分布频率在两组之间无明显差异(P=0.08)。同时,-308位点的GA+AA基因型组和GG型组相比,其中腰臀比、收缩期和舒张期血压、尿酸、甘油三酯差别均有统计学意义(P=0.05～0.01);-238位点的两组基因型间各检测指标差别均无意义。结论本研究结果显示HUA个体中TNF-α启动子区-308A携带者的基因型与高尿酸血症及其代谢表型有关。更多还原

【Abstract】 Objective To investigate the correlation between the-308 site,-238 site gene polymorphism of TNF-α promoter region in hyperuricemia and its metabolic phenotype. Methods HUA patients 188, normal people(NHU) 51, the-308G/A site single nucleotide polymorphism of TNF-a gene promoter region was decided by Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method. The level of serum uric acid is detected by uricase, blood glucose by glucose oxidase. Selective inhibition assay for total cholesterol, triglyceride and high-density lipoprotein cholesterol. All these tests were completed within three hours after extraction. Keep blood samples at-20℃ to detect the concentration of insulin using immunoradiometric assay. HUA patients 35, NHU 39,the-238G/A site single nucleotide polymorphism of TNF-a gene promoter region was decided by the same method. Results By studying two single nucleotide polymorphism, the GA+AA frequency of-308 site(23.94%) in HUA was significantly higher than NHU(11.76%)(P = 0.0001);the genotype frequencies of GA and GG in-238 site had no significant difference between the two groups(P = 0.08). Meanwhile, comparing GA+AA genotype and GG group of-308 site, waist-hip ratio,systolic and diastolic blood pressure, uric acid, triglycerides differences were statistically significant(P =0.05～0.01);the difference in-238 site between the two genotypes was no significance. Conclusion The results of this study show-308A carriers of TNF-α promoter region in HUA individual is correlated with hyperuricemia and its metabolic phenotype.更多还原