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目的 家族性混合型高脂血症 (FCHL)是最常见的血脂代谢异常 ,在心肌梗死幸存者中的比例为 10 %～ 2 0 % ,本研究旨在探讨FCHL患者与载脂蛋白E基因多态性的关系。方法 采用聚合酶链反应 -限制性片段长度多态性(PCR RFLP)技术 ,对 16 0例FCHL患者及 32 8例血脂正常对照人群的apoE基因型频率分布进行了分析。 结果 FCHL患者与对照人群apoE基因型ε2ε2 ,ε2ε3,ε2ε4 ,ε3ε3,ε3ε4 ,ε4ε4频率分别为 0 ,0 0 81,0 0 31,0 712 ,0 138,0 0 38和 0 ,0 16 8,0 0 2 4 ,0 6 86 ,0 116 ,0 0 0 6。FCHL患者与对照组apoE基因等位基因ε2、ε3、ε4频率分别为0 0 5 6 ,0 82 1,0 12 3和 0 0 96 ,0 82 8,0 0 76。两组间基因型与等位基因频率分布统计学差异具有显著性 (χ2 =12 94 ,P =0 0 12 ;χ2 =9 0 3,P =0 0 11)。结论 我们的研究提示apoE基因ε4等位基因是影响FCHL血脂表型的一个遗传易患因子。
The purpose of familial mixed hyperlipidemia (FCHL) is the most common dyslipidemia, myocardial infarction survivors, the proportion of 10% to 20%, the purpose of this study is to explore FCHL patients and apolipoprotein E gene Relationships. Methods The frequency distribution of apoE genotypes in 160 FCHL patients and 328 healthy individuals with lipids was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The frequency of apoE genotypes ε2ε2, ε2ε3, ε2ε4, ε3ε3, ε3ε4 and ε4ε4 in FCHL patients and control subjects were 0, 0 0 81, 0 0 31, 0 712, 0 138, 0 0 38 and 0 0 16 8, respectively 0 2 4, 0 6 86, 0 116, 0 0 0 6. The frequency of ε2, ε3 and ε4 alleles of apoE gene in patients with FCHL and controls were 0 0 5 6, 0 82 1 0 12 3 and 0 0 96, 0 82 8 0 0 76, respectively. The statistical difference of genotype and allele frequency distribution between the two groups was significant (χ2 = 1294, P = 0 0 12; χ2 = 9 0 3, P = 0 0 11). Conclusions Our study suggests that the a4 gene of the apoE gene is a predisposing genetic factor affecting the phenotype of FCHL lipids.