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作 者:姚华[1] 孙玉萍[2] 玛丽亚.沙吾那斯 李清[4] 王秋云[4] 胡静[4] 古丽巴哈.阿不都热合曼 妥玲[4]
机构地区:[1]新疆医科大学中医学院,新疆乌鲁木齐830000 [2]新疆医科大学基础医学院病原学教研室,新疆乌鲁木齐830000 [3]新疆医科大学乌鲁木齐市宝科达医院,新疆乌鲁木齐830000 [4]新疆医科大学新疆医科大学附属中医医院,新疆乌鲁木齐830000
出 处:《新疆医科大学学报》2007年第6期543-547,共5页Journal of Xinjiang Medical University
基 金:教育部高等学校博士点科研基金项目(20060760002);新疆高校创新群体科研基金(XJEDV200G09);新疆维吾尔自治区劳动卫生与环境卫生学重点学科建设基金
摘 要:目的:探讨维吾尔族与汉族载脂蛋白E基因多态性与原发性高尿酸血症的相关性。方法:收集2006年1~12月在新疆医科大学附属中医医院和乌鲁木齐市宝科达医院健康体检的670人血标本,检测血尿酸、血液生化指标以及ApoE基因型。结果:新疆维吾尔族和汉族ApoE基因型分布差异有统计学意义(P<0.05),汉族高尿酸组和正常组ApoE基因型分布总体差异有统计学意义(P<0.05),而维吾尔族总体差异无统计学意义(P>0.05)。汉族和维吾尔族ApoE基因型中E3/3占主导,汉族E2/2>E4/4,而维吾尔族正好相反。与正常组相比,高尿酸组ApoEε2等位基因频率降低,而ε4频率升高,ε4等位基因可能是原发性高尿酸血症的危险因素。两个民族高尿酸组不同等位基因血尿酸(SUA)和除高密度脂蛋白-胆固醇(HDL-C)外的各生化指标均高于正常组,而且两个民族高尿酸组和正常组尿酸和血脂代谢指标水平在ApoE等位基因ε2、ε3、ε4型中也有一定的差别。结论:ApoEε4等位基因可能是汉族和维吾尔族原发性高尿酸血症的遗传易感基因,但仍然表现出民族的差异。Objectives: To study the correlation of apolipoprotein E gene polymorphism and primary hyperuricemia in Han and Uygur ethnicity in Xinjiang. Methods: The blood samples were collected from January to December 2006. These subjects people were analyzed for serum uric acid(SUA), fasting blood sugar (FBS), serum triglyceride (TG), serum total cholesterol (TC), serum high density lipoprotein (HDL-C), serum low density lipoprotein (LDL-C) as well as biochemistry targets and low density lipoprotein, and apolipoprotein E gene polymorphism was tested by multiplex amplification refractory mutation system PCR (Multi-ARMS PCR). Results: Apolipoprotein E gene polymorphism in Han and Uygur ethnicity had significant differences (P 〈0.05). Between the normal group and primary hyperuricamia group, apolipoprotein E gene polymorphism in Han ethnicity had significant differences (P 〈0.05). In Uygur ethnicity it had not significant differences (P 〉0.05). Among the three genotypes of apolipopretein E gene, apolipopretein gene type ε3/3 was the most common one in two ethnicities,E2/2〉E4/4 in Han ethnicity, but E4/4〉E2/2 in Uygur ethnicity. Compared with normal group, primary hyperuricemia group ε2 allele frequency decreased and ε4 allele frequency increased in the two ethnicities ; the ε4 allele gene might be the risk factor of primary hyperuricemia. The serum of uric acid and plasma lipid parameters in primary hyperuricemia peoples were higher than the healthy controls in both ethnicities, and it still showed difference between Han and Uygur ethnicity too. Conclusions: Apolipopretein ε4 allele gene polymorphism may be a genetic factor in hyperuricamia in Han and Uygur ethnicity, but different ethnicity has his own characteristics.
关 键 词:APOE基因 原发性高尿酸血症 基因多态性 等位基因特异性多重PCR技术 等位基因频率
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