动脉硬化性脑梗塞遗传因素载脂蛋白AI基因DNA多态性分析

GENETIC FACTOR OF ATHEROTHROMBOTIC BRAIN INFARCTION: APOLIPOPROTEIN A I GENE DNA POLYMORPHISMS

应用限制性片段长度多态性方法分析了52例动脉硬化性脑梗塞患者及60例健康对照ApoAⅠ基因,并应用酶学方法测定了二种基因型患者血清高密度脂蛋白胆固醇、总胆固醇及甘油三脂水平。结果表明载脂蛋白AⅠ基因PstⅠRFLP由2.2kb和3.3kb组成,3.3kb片段频率在二组间分别为0.16、0.02,二组间具有极显著性差异(P<0.o1),提示多态片段3.3 kb与动脉硬化性脑梗塞相关,是HDL-L水平下降的遗传因素之一。

The authors have investigated the association between serum high density lipoprotein and total cholesterol and triglyceride concentration and Pst- Ⅰ restriction fragment length polymorphisms of the apolipoprotein (Apo) A Ⅰ gene. Two groups of subjects were examined. The first group comprised 52 unrelated Chinese patients with atherothrombotic otic brain infarction (ABI). The second group consisted of 60 unrelated healthy subjects. For the Pst Ⅰ polymorphism, the frequency of the minor P2 (allele, 3.3kb) was 0.16 in the Chinese ABI patients and was higher than that in the control group (P2 frequency 0.02,P<0.01). ABI patients with the genotype(P1 P2)had lower serum levels of HDL-C compared to those with the genotype P1 P1 (0.9immol/L vs 1.21 mmol/L, P<0.01). The data showed genetic variation in the Apo A Ⅰ gene and suggest that the mechanism of this association may operate through an effect in determining the serum concentration of high density lipoprotein and it may provide a molecular clue for ABI risk in certain individuals.