脑血管病患者载脂蛋白E基因多态性分析

目的 探讨脑血管疾病患者的载脂蛋白E（ApoE）基因多态性。方法 应用聚合酶链式反应——限制性片断长度多态性（PCR-RFLP）技术检测脑血管病患者98例（脑梗死78例，脑出血20例）和90名健康对照的ApoE基因多态性分布特征。应用酶比色法检测血脂水平。结果 脑梗死组E3/4基因型频率及E4等位基因频率显著高于对照组（23.1% vs 7.8%；14.7% vs 5.0%，P均＜0.05）；而E3/3基因型频率及E3等位基因频率显著低于对照组（56.4% vs 78.9%；75.6% vs 88.3%，P均＜0.05）。脑出血组的ApoE基因型及等位基因频率与对照组比较差异无统计学意义（P＞0.05）。不同ApoE基因型之间总胆固醇（TC）和低密度脂蛋白胆固醇（LDL-C）水平差异有统计学意义（P＜0.05）。结论 ApoE4等位基因是脑梗死发病的遗传易患因子，而ApoE3等位基因则对脑梗死具有保护作用。ApoE基因多态性影响血脂水平。

Analysis of Apolipoprotein E Gene Polymorphism in Patients with Cerebrovascular Disease

Objective To study the apolipoprotein E gene(ApoE) polymorphism in patients with cerebrovascular disease(CVD).Methods The polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) technique were used to detect ApoE genetype in 98 CVD patients(78 cerebral infarction and 20 cerebral hemorrhage) and 90 age-matched controls. We used enzyme chromatometry to detect the level of lipids.Results The frequency of genotype E3/4 was 23.1% and E4 was 14.7% in the cerebral infarction group, significantly higher than those in control group (P<0.05). The frequency of genotype E3/3 was 56.4% and E3 was 75.6% in the cerebral infarction group, which were significantly lower than in the control group(P<0.05). While in cerebral hemorrhage group the ApoE genotype and the frequency of allele had no significant difference when compared with control group(P>0.05). The serum levels of total cholesterol(TC) and low density lipoprotein-cholesterol(LDL-C) were significant difference in different ApoE genotype subgroups(P<0.05).Conclusion ApoE4 is one gene of cerebral infarction while ApoE3 has protection to cerebral infarction. The polymorphisms of apolipoprotein E gene have effect on the serum level of TC and LDL-C.