【摘要】 本文报告95例健康人组与123例非继发性高脂蛋白血症疾病组的载脂蛋白 E 表型分布和血脂水平。疾病组载脂蛋白 E 等位基因ε₄频率和血清总胆固醇平均值分别为10.95%和189mg/dl,健康组相应数值分别为6.40%和150mg/dl;疾病组总胆固醇高于平均值人群的ε₄频率比低于平均值人群的ε₄频率明显增高,分别为14.05%和8.30%;分别计算具不同等位基因人群的血消总胆固醇和低密度脂蛋白胆固醇的平均水平,二者均是ε₄最高,ε₃居中:ε₂最低。这些结果提示,载脂蛋白 E 是影响机体血清胆固醇水平的内在因子,等位基因ε₄是机体高胆固醇血症的遗传易患因素。更多还原

【Abstract】 The distribution of apolipoprotein E phenotypes and the levels of serum lipidsin 95 normal subjects and 123 patients with diseases except secondary hyperlipidemiawere determined and analysed.The frequency of the allele ε₄ and the mean value ofserum cholesterol in the patient group,10.95% and 189 mg/dl respectively,werehigher than the corresponding values in the normal group,6.40% and 150 mg/dl res-pectively.In the patient group,the frequency of the allele ε₄ in the subgroup withserum cholesterol equal to or above the mean value（189 mg/dl）was higher than thatin the subgroup with serum cholesterol below the mean value,being 14.05% and 8.30%respectively.Furthermore,the patients with the allele ε₄ tended to have the highesttotal and LDL cholesterol mean value,the patients with the allele ε₂ did the lowest,and the allele ε₃ homozygotes did between them.All these results described in thispaper showed that the apolipoprotein E appeared to be one of the important factorsaffecting the serum cholesterol and the allele ε₄ seemed to be the genetic risk factorfor hypercholesterolemia.更多还原