中国人内源性高甘油三酯血症载脂蛋白E基因多态性的研究  

Study on apoE gene polymorphism in Chinese endogenous hypertriglycerdemia

作　　者：张雪梅[1] 刘秉文[1] 白怀[1] 范萍[1] 

机构地区：[1]华西医科大学载脂蛋白研究室,成都610041

出　　处：《中华医学遗传学杂志》2001年第2期100-104,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金!(39770 32 2 )&&

摘　　要：目的　探讨中国人内源性高甘油三酯血症 (endogenous hypertriglyceridemia,HTG)患者载脂蛋白 E(apolipoprotein 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 -限制性片段长度多态性分析方法 ,分别对 2 2 5例 HTG患者及 2 30名血脂正常者的 apo E基因型、空腹血脂及载脂蛋白 A 、A 、B10 0、C 、C 、E进行了分析。结果　 HTG患者的体重指数 (BMI)、血清甘油三酯 (TG)、总胆固醇 (TC)、非高密度脂蛋白胆固醇 (n HDL C)水平较对照组显著升高 ,血清高密度脂蛋白胆固醇 (HDL C)则显著降低 (P<0 .0 0 1) ,并伴有载脂蛋白水平的异常。HTG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 ,HTG组的ε2 等位基因有增高的趋势 (P>0 .0 5 )。对照组ε2 等位基因携带者血清 TG和 apo E水平较ε3和ε4等位基因携带者显著升高 (P<0 .0 0 1) ,其低密度脂蛋白胆固醇(L DL C)水平及 apo E/ apo C 比值则显著降低 (P<0 .0 0 1)。结论　ε2 等位基因与血清 TG和 apo E水平升高及 L DL C水平降低有关 ,apo E/ apo C 比值降低可能与 HTG患者血 TG水平升高有关。Objective To investigate apolipoprotein(apo) E polymorphism and its relationship with serum lipids and apolipoproteins in Chinese patients with endogenous hypertriglyceridemia(HTG). Methods apoE genotype was assayed by polymerase chain reaction restriction fragment length polymorphism(PCR RFLP), serum lipids were determined by enzyme method, and apolipoproteins were measured by radial immunodiffusion assay in 225 endogenous HTG patients whose fasting serum TG levels were ≥2.26 mmol/L and in 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 controls, the values of BMI,TG, TC, nHDLC, apoB100,CⅡ, CⅢ, E and TG/HDLC in HTG patients were significantly increased and the values of HDLC, apoAⅠ and apoE/apoCⅢ were significantly decreased( P <0.001). apoE3/3 genotype and allele ε 3 frequency in HTG group and the control group were both the highest, and allele ε 2 frequency in HTG group tended to increase than that in the control group ( P > 0 05). Both in HTG group and control group, the genotype of apoE2 had higher serum TG and apoE levels, lower LDLC level and decreased apoE/apoCⅢ ratio as compared with the genotype of apoE3 or apoE4( P <0.001). Conclusion Allele ε 2 of apoE gene was associated with higher serum TG and apoE levels and lower serum LDLC level, and the lower ratio of apoE/apoCⅢ was associated with the higher serum level of TG in endogenous HTG.

关 键 词：内源性高甘油三酯血症 载脂蛋白E 等位基因 基因型 聚合酶链反应-限制性片段长度多态性 

分 类 号：R589.2[医药卫生—内分泌]