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目的 了解载脂蛋白E(ApoE)基因多态性与儿童血脂谱水平的关系。方法 采用聚合酶链反应 限制性内切酶图谱分析法 ,对 30 7名 7～ 11岁在校儿童进行血脂谱水平测定及ApoE基因多态性检测。结果 30 7名儿童最常见基因型E3 3检出率为 5 4 7% ,其他基因型依次为E4 3(2 3 8% )、E4 4(9 1% )、E3 2 (8 1% )、E4 2 (3 9% )、E2 2 (0 3% ) ,不同性别基因型构成的差异无显著性 ;常见等位基因E3频率为 70 7% ,E4、E2分别为 2 3 0 %和 6 4% ,其中E4频率明显高于国内其他报道 ,E2频率接近于国内报道 ;男童E4 3、E3 3基因型总胆固醇 (TC ,4 19、4 2 9、3 41mmol L)、低密度脂蛋白 胆固醇 (LDL C)、载脂蛋白AⅠ (ApoAⅠ )、载脂蛋白B(ApoB)水平高于E3 2基因型 ,E4 2基因型TC(4 2 8和 3 41mmol L)、ApoAⅠ水平高于E3 2基因型 ,女童不同基因型血脂谱水平的差异无显著性 ;高胆固醇组与正常组儿童ApoE HhaⅠ位点基因型分布比较差异无显著性 ;ApoE2可使TC水平降低 0 377mmol L ,LDL C水平降低 0 32 9mmol L。结论 ApoE基因多态性与男童血清胆固醇水平相关 ,E2等位基因携带者TC、LDL C、ApoB水平最低。
Objective To investigate the relationship between the polymorphism of apolipoprotein E (ApoE) and the level of serum lipid profile in children. Methods PCR-RFLP was used to detect the blood lipid profile and ApoE gene polymorphism in 30 7 children aged 7-11 years. Results The detection rate of E3 3, the most common genotype in 30 7 children, was 54.7%. The other genotypes were E4 3 (23.8%), E4 4 (9 1%), E3 2 (81%), E4 2 (39%) and E2 2 (0 3%). There were no significant differences in the genotypes of the genotypes between the two genotypes. The frequencies of common alleles E3 were 70.7%, E4 and E2 were 230% and 64% %, Of which E4 frequency was significantly higher than other reports in the country, E2 frequency close to the domestic coverage; boys E4 3, E3 3 genotype total cholesterol (TC, 4 19,42 9,3 41mmol L), low density lipoprotein cholesterol LDL C, ApoAⅠ, ApoB were higher than those of E3 2 genotype, E4 2 genotype TC (428 and 3 41mmol L), ApoAⅠlevel was higher than that of E3 2 gene There was no significant difference in the blood lipid profiles of different genotypes among girls and girls. There was no significant difference in ApoE Hha Ⅰ genotype distribution between high cholesterol group and normal group. ApoE2 decreased TC level 0 377 mmol L and LDL C level 0 32 9mmol L. Conclusions ApoE gene polymorphism is associated with serum cholesterol in boys, and TC, LDL C and ApoB in E2 alleles are the lowest.