【摘要】 目的　探讨中国人 b型高脂蛋白血症患者载脂蛋白 E(apo E)基因多态性及其与血脂和载脂蛋白水平的关系。方法　采用聚合酶链反应 -限制性酶切片段长度多态性法 (PCR- RFL P) ,分别对 74例 b型高脂血症患者及 2 30例血脂正常者的 apo E基因型、空腹血脂及载脂蛋白 A 、A 、B10 0、C 、C 、E进行了全面分析。结果　 b型高脂血症患者的体重指数 (BMI) ,血清甘油三酯 (TG) ,总胆固醇 (TC) ,低密度脂蛋白胆固醇(L DL C) ,非高密度脂蛋白胆固醇 (n HDL C) ,载脂蛋白 A 、B10 0、C 、C 、E水平及 TG/ HDL C比值均较对照组显著升高 (P<0 .0 0 1) ;血清高密度脂蛋白胆固醇 (HDL C)水平及 apo E/ apo C 比值显著降低 (P<0 .0 5 )。 b型高脂血症组与对照组 apo E基因型及等位基因频率分布均以 E3/ 3和 ε3最高 , b型高脂血症组的 ε2 等位基因有增高的趋势 ,而 ε4等位基因有降低的趋势 (P>0 .0 5 )。携带 ε2 等位基因组血清 TG、apo C 、apo E水平及 apo E/ apo C 比值较 E3/ 3基因型组显著升高 ,而携带 ε4等位基因组血清 TC、n HDL C及 apo E水平较 E3/ 3基因型组显著升高(P<0 .0 0 1) )。结论　 ε2 及 ε4等位基因与 b型高脂蛋白血症患者的血清 TG、TC、n HDL C、apo C 及 apo E水平升高有关。更多还原

【Abstract】 Objective To study apolipoprotein(apo) E polymorphism and its relationship with plasma lipids and apolipoproteins levels in Chinese patients with type Ⅱb hyperlip oproteinemia. Methods apoE genotypes were assayed by polymerase chain reaction(PCR) restriction fragment length polymorphism(RFLP) method,serum lipids were determined by enzyme method, and apolipoproteins were measured by radial immunodiffusion assay in 74 type Ⅱb hyperlipidemia patients whose fasting serum lipids levels were TG≥2 26mmol/L,TC ≥6 21 mmol/L and in 230 healthy subjects whose fasting serum lipids levels were TG<1.82mmol/L, TC<6 21 mmol/L from a population of Chinese Han nationality in Chengdu area. Results Compared with the control group, the serum TG,TC,LDLC, nHDLC, apoAⅡ, apoB100, apoCⅡ, apoCⅢ, apoE levels and TG/HDLC ratio in patients with type Ⅱb hyperlipidemia were significantly increased( P <0.001), and the serum HDLC levels and apoE/apoCⅢ ratio were significantly decreased( P <0.05). ApoE3/3 genotype and allele ε 3 frequency in type Ⅱb hyperlipidemia group and control group were both the highest. In type Ⅱb hyperlipidemia group, allele ε 2 frequency tended to increase and allele ε 4 frequency tended to decrease as compared with those in the control group ( P >0.05). In type Ⅱb hyperlipidemia group the genotype of apoE2 was associated with higher serum TG, apoCⅡ, apoE levels and apoE/apoCⅢ ratio when compared with the genotype of apoE3; the genotype of apoE4 was associated with higher serum TC, nHDLC and apoE levels when compared with the genotypes E3 and E2( P <0 001). Conclusion The alleles ε 2 and ε 4 are associated with serum TG,TC,nHDLC,apoCⅡ and apoE levels to some extent in type Ⅱb hyperlipide in Chinese population.更多还原