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目的 探讨有冠心病 (CHD)家族史儿童载脂蛋白 (apo)E基因多态性的分布及其对血脂、脂蛋白、apo的影响。方法 采用改良的聚合酶链式反应 限制性片段长度多态性方法 ,分析 83例有CHD家族史的儿童和 2 82例无CHD家族史的儿童apoE基因型。结果 与无CHD家族史的儿童比较 ,有CHD家族史儿童apoε4等位基因频率较高 (分别为 6 .0 %、15 .7% ,P <0 .0 1)。早发CHD家族史的儿童ε4等位基因频率较非早发及无CHD家族史儿童为高 ,三组之间的ε4等位基因频率差异有显著性 (分别为 18.3%、14.8%、6 .0 % ,P <0 .0 5 )。apoE基因多态性对有CHD家族史儿童的血脂水平有影响 ,ε2、ε3、ε4等位基因携带者的血总胆固醇 (TC)、低密度脂蛋白 -胆固醇 (LDL C)、脂蛋白 (a)、apoB10 0、apoE浓度有差异 (P <0 .0 5 ) ;与ε3等位基因携带者比较 ,ε4具有较高的血TC、LDL C、apoB10 0水平和较低的apoAⅠ、apoE水平 ;ε2等位基因携带者的血TC、LDL C和脂蛋白 (a)水平较低 (P <0 .0 5 )。结论有CHD家族史儿童apoE基因多态性与其他儿童不同 ,并对血浆脂蛋白代谢产生明显影响
Objective To investigate the distribution of apo E gene polymorphism and its effect on serum lipids, lipoproteins and apo in children with a family history of coronary heart disease (CHD). Methods Amplified polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used in 83 children with CHD family history and 2 82 children with no CHD family history apoE genotype. Results Compared with children without CHD family history, children with CHD had a higher frequency of apoε4 alleles (6. 0%, 15. 7%, P <0 01, respectively). The frequency of ε4 alleles in children with a family history of premature CHD was higher than those in children with no history of CHD and family history of CHD. The frequencies of ε4 alleles in the three groups were significantly different (18.3%, 14.8%, respectively). 0%, P <0. 05). The apoE gene polymorphism has an influence on the blood lipid level of children with CHD family history. The levels of TC, LDL C, ), ApoB10 0 and apoE (P <0.05). Compared with ε3 allele carriers, ε4 had higher serum TC, LDL C, apoB10 0 levels and lower apoA I and apoE levels. The levels of TC, LDL C and lipoprotein (a) in ε2 allele were lower (P <0.05). Conclusions ApoE gene polymorphism in children with CHD family history is different from other children and has a significant effect on plasma lipoprotein metabolism