【摘要】 为了建立能较好反映国人载脂蛋白E等位基因分布的基本数据 ,利用聚合酶链反应 -限制片长多态性技术测定 12 1例天津市新生儿载脂蛋白E基因型并计算其等位基因频率。结果发现 ,新生儿载脂蛋白E的六种基因型分布分别为 :E3/ 3(74.38% )、E2 / 3(13.2 2 % )、E3/ 4(8.2 7% )、E2 / 4(2 .48% )、E2 / 2 (1.6 5 % )及E4/ 4(0 ) ,推算等位基因ε3、ε2和ε4频率分别为 85 .13 %、9.5 0 %和 5 .37%。 12 1例新生儿的数据与多数以前所报成年人和老年人的结果十分相近 ,提示虽然携带不同载脂蛋白E等位基因可能影响机体的血脂水平及冠心病等的发病率 ,但尚未对人群的预期寿命产生明显的影响。更多还原

【Abstract】 Aim To determine the distribution of apolipoprotein E genotype that can veritably reflect the actual apolipoprotein E genotypic frequency of Chinese population. Methods The blood samples were randomly collected from 121 newborn’s umbilical cords. The apolipoprotein E genotypes were examined by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques. Results The allelic frequencies of apolipoprotein E are ε2 9.50%, ε3 85.13% and ε4 5.37% respectively. Conclusions Although there were some certain differences between the results and those of other research groups’, the Apo E allelic frequencies were quite similar to that of the aged and the adults reported previously by the major laboratories in China. Based on the unremarkable difference of the allelic and genotypic frequencies of Apo E among different generations, although the Apo E allele may affect the lipid level and the morbidity of coronary heart disease, it has no obvious impact on the life expectancy.更多还原