中国人Ⅱa型高脂蛋白血症载脂蛋白E基因多态性的研究

为探讨中国人Ⅱa型高脂蛋白血症患者载脂蛋白E基因多态性及其与血脂和载脂蛋白水平的关系，采用聚合酶链反应－限制片长多态性法，分别对87例Ⅱa型高脂蛋白血症患者及230例血脂正常者的载脂蛋白E基因型、空腹血脂及载脂蛋白AⅠ、AⅡ、B100、CⅡ、CⅢ和E进行了全面分析。结果发现，Ⅱa型高脂蛋白血症患者的血清甘油三酯、总胆固醇、低密度脂蛋白胆固醇、高密度脂蛋白胆固醇、非高密度脂蛋白胆固醇，以及载脂蛋白B100、CⅡ、CⅢ和E水平较对照组显著升高（P＜0．01）；;血清载脂蛋白E／CⅢ比值显著降低（P＜0．05）；Ⅱa型高脂蛋白血症组与对照组载脂蛋白E基因型及等位基因频率分布均以E3／3和ε3最高，Ⅱa型高脂蛋白血症组的ε4等位基因有增高的趋势，而ε2等位基因有降低的趋势（P＞0．05）。携带ε2等位基因组血清载脂蛋白E水平较E3／3基因型组显著升高，而携带ε4等位基因组血清载脂蛋白E水平较E3／3基因型及携带ε2乘位降低基因组显著（P＜0．001）。此结果提示，ε2及ε4等位基因与Ⅱa型高脂蛋白血症患者的血清载脂蛋白E水平有关。

Study on Apolipoprotein E Gene Polymorphism in Chinese Type

Aim To study apolipoprotein (apo) E polymorphism and itsrelationship with plasma lipids and apolipoproteins in Chinese patients with type Ⅱa hyperlipoproteinemia. Methods and Subjects Apo E genotype were assayed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP)， serum lipids were determined by enzyme method and apolipoproteins were measured by radial immunodiffusion assay in 87 type Ⅱa hyperlippoproteinemia patients whose fasting serum lipids levels were TG≤1.82 mmol/L，TC ≥6.21 mmol/L and 230 healthy subjects whose fasting serum lipids levels were TG≤1.82 mmol/L，TC<6.21 mmol/L from a population of Chinese Han nationality in Chengdu area. Results Compared with the control group the values of serum TG， TC， HDLC， LDLC， nHDLC， apo B100， apo CⅡ， apo CⅢ and apo E levels in patients with typeⅡa hyperlipoproteinemia were significantly increased (P<0.01) and the values of apo E/CⅢ ratio were significantly decreased (P<0.05). Apo E3/3 genotype and allele ε3 frequency in type Ⅱa hyperlipoproteinemia group and the control group were both the highest. Allele ε4 frequency in type Ⅱa hyperlipoproteinemia group was tended to increase than that in the control group and allele ε2 frequency was tended to decrease (P>0.05). In type Ⅱa hyperlipoproteinemia group the genotype of apo E2 was with higher serum apo E levels compared with the genotype of apo E3， and the genotype of apo E4 was with lower serum apo E levels than those in genotypes E3 and E2 (P<0.001). Conclusion Apo E gene polymorphism was associated with serum apo E levels in type Ⅱa hyperlipoproteinemia.