肥胖儿童载脂蛋白E基因型与临床表现的相关性  

Clinical studies on the investigation of Apo E polymorphism in children with obesity

作　　者：刘长云[1] 管立学[2] 王永芹[1] 季加芬[1] 刘红英[1] 王敬先[2] 李伟华[1] 别惠玲[1] 孙未[1] 

机构地区：[1]山东省潍坊医学院附属医院儿科,261031 [2]潍坊市人民医院遗传室,261041

出　　处：《中国实用儿科杂志》2005年第12期724-727,共4页Chinese Journal of Practical Pediatrics

基　　金：山东省卫生厅科技项目(项目编号:2001CA1CCB8)

摘　　要：目的探讨单纯性肥胖儿童载脂蛋白(apolipoprotein,Apo)E基因多态性的分布及其对血脂、脂蛋白、载脂蛋白的影响,及其与冠状动脉、心电图改变的关系。并对其早期预测和疾病预防提供理论依据。方法选择2002年12月至2004年12月潍坊医学院附属医院儿科的6～14岁单纯性肥胖儿童89例和健康儿童76例。抽取外周静脉血,测定血清中甘油三酯(TG),总胆固醇(TC),高密度脂蛋白胆固醇(HDLC),低密度脂蛋白胆固醇(LDLC),载脂蛋白A1(ApoA1),载脂蛋白B100(ApoB100)浓度。应用改良的聚合酶链式反应限制性片段长度多态性(PCRRFLP)分析及聚丙烯酰胺凝胶电泳测定儿童ApoE基因型。结果共检出4种ApoE基因型,E3/3、E4/3、E2/3、E4/2,以ε3为最常见。与健康儿童比较,肥胖儿童ε4等位基因频率增高,差异有显著性(P<0.05)。结论单纯性肥胖儿童有ApoE基因多态性的变化,且明显影响小儿血浆脂类代谢,肥胖儿童ApoE4与冠心病有密切相关性。Objective To investigate the distribution of apolipoprotein （ Apo ） E polymorphism and association of Apo E genotypes with plasma lipids in children with simple obesity. And to provide a theoretical basis for the prevention of CHD. Methods From Dec. 2002 to Dec. 2004,89 children with simple obesity and 76 healthy children from 6 to 14 years old were chosen as obesity group and control group. Serum triglyceride （ TG ） , total cholesterol （ TC ） , low density lipoprotein cholesterol（ LDL-C ）, high density lipoprotein cholesterol （ HDL-C ） , Apolipoprotein A1 （ Apo A1 ）, Apolipoprotein B100 （Apo B100 ） were measured after they were fasted for 12 hours. Polymerase chain reaction-restricted fragments length polymorphism（ PCR-RFLP） ,polyacrylamide gel electrophoresis, and silver staining technique were used for the detection of apolipoprotein E genotype. Results Four genotypes of Apo E were detected, and their distribution was imbalanced, most of them being 63 alleles. Compared with the control group, the frequency of ε4 allele in obesity group was higher （ P 〈 0. 05）. Apo E polymorphisms may affect plasma lipid levels of healthy and obesity children. Conclusion Children with the simple obesity have different patterns of Apo E polymorphisms as compared with healthy children. Apo E polymorphisms may affect plasma lipids metabolism.

关 键 词：胆固醇 载脂蛋白E 等位基因 肥胖症 儿童 

分 类 号：R72[医药卫生—儿科]