中国人群(京津地区)载脂蛋白E基因多态性和表型分布的研究

本文利用作者建立的密度梯度超速离心分离VLDL的新方法和分析等电聚焦电泳,测定了95例中国人Apo-E基因多态性和其表型分布以及血脂水平。所得表型分布趋势与国外报告一致:E_3/E_3频率最高,E_3/E_2和E_3/E_4次之,E_4/E_4,E_4/E_2和E_2/E_2最低。同对发现中国人群的E_3/E_3表型百分分布明显高于西方人群,但未发现有E_2/E_2表型。我国人群Apo-E表型分布的这种特征可能与中国人群冠心病的患病率较西方人群为低有关。血清脂质测定和分析表明,具有不同表型人群的血脂水平无显著的统计学差异。

STUDIES ON HUMAN APOLIPOPROTEIN E GENETIC ISOFORMS AND THEIR PHENOTYPES AMONG THE CHINESE POPULATION

The genetic isoforms of apolipoprotein E separated by iso electric focusing and their phenotype and genotype distributions of 95 healthy individuals among the Chinese population were reported. Three major isoforms - namely E4, E3 and E2 and five phenotypes, of which two homozygotes E3/E3, E4/E4 and three hetero-zgotes E3/E4,E3/E2 and E4/E2 were found. The general trend of the distribution of the phenotypes and the genotypes was similar to that in the western countries and in Japan, but the absolute percentage values of apo E3/E3 in our studies are much higher than that of the western countries, being 78.8% against 58.7% of the average values of the western countries. However,the values of apo E phenotypes and genotypes between the Chinese and the Japanese are somewhat similar. The frenquency distribution of apo E phenotypes of the Chinese population are 78.8%, 9.5%, 9.5%, 1.1%, 1.1%and0.0% for E3/E3, E3/E4, E3/E2, E4/E4, E4/E2 and E2/E2 respectively and that of the Japanese population are 71.0%, 15.0%, 12.0%, 1.0%, 1.0% and 0.0% respectively, while the values of apo E phenotype distribution of the western countries are at an average of 58.7%,22.2% 14.2%,2.2% ,1.8% and 0.94% respectively. So that there are some racial differences among the different populations studied. The significance of the difference of the apo E genotypes and phenotypes between the Chinese and the Caucasians were discussed.