载脂蛋白B基因多态性与高脂血症关系的研究

The Relation between Apolipoprotein B Gene Loci Polymorphisms and Hyperlipidemia Studied by Polymerase Chain Reaction

选取93例高脂血症患者及250例正常对照人群，利用聚合酶链反应（PCR）扩增技术对载脂蛋白（ApoB）基因3’端高变区可变数目串联重复序列（VNTR）作快速而准确分型，研究其多态性与高脂血症的关联，研究结果显示：高脂血症组有8个ApoB等位基因，正常人群组有10个等位基因，ApoB3’端VNTR不同等位基因频率分布为0．004～0．66。载脂蛋白B基因多态性，即BS杂合子等位基因型组的血脂变量与BB，SS纯合组等位基因型组比较无论是在正常对照组中还是在高脂血症组中均存在显著差异。高脂血症患者载脂蛋白B基因型分布及等位基因频率分布与健康人群无差异。

The distribution of polymorphisms at variable number of tandemly repeated loci of the 3’flanking region of the apolipoprotein B gene was studied using pclymerase chain reaction in 93 patients with hyperlipidemia and 250 age-matched healthy individuals. There are 8 ApoB VNTR alleies in patient with hyperlipidemia group and 10 alleles in controls. The frequency distribution of these ApoB 3’ VNTR alleles is 0.004～0.66. The result shows that there are apparent differences in the genotypes of ApoB gene and several lipid variables among the patient and cotrol group. But there are no difference in the distribution of allele frequencies of the ApoB gene between patient and control group.