高脂血症高密度脂蛋白亚类分布与Apo A-Ⅰ基因多态性的关系  

Relationship of subclasses of serum HDL and Apo A-Ⅰ gene polymorphism in hyperlipidemia

作　　者：贾连群[1] 白怀[1] 傅明德[1] 徐燕华[2] 勾蓝图[1] 

机构地区：[1]四川大学华西基础医学与法医学院生物化学与分子生物学教研室,四川成都610041 [2]华神集团博士后研究工作站,四川成都610075

出　　处：《中国病理生理杂志》2006年第4期796-800,共5页Chinese Journal of Pathophysiology

基　　金：纽约中华医学基金会(CMB)资助项目(No.82-412)

摘　　要：目的:探讨高脂血症患者高密度脂蛋白(HDL)亚类分布与载脂蛋白A-Ⅰ(Apo A-Ⅰ)基因多态性的关系。方法:采用聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)和双向电泳-免疫印迹检测法,分析比较118例高脂血症患者和109例血脂正常者的Apo A-Ⅰ基因型、HDL各亚类分布及相对含量。结果:Apo A-Ⅰ基因-78bp位点和+83bp位点的多态性分别以G/G和C/C基因型占优势,其中-78bp位点高脂血症组A等位基因的频率显著高于对照组(P<0·05)。高脂血症患者中,G/A突变受试者血清TG、Apo C-Ⅲ、preβ1-HDL及HDL3a水平显著高于,而HDL2a和HDL2b水平则显著低于G/G基因型者。结论:高脂血症Apo A-Ⅰ基因-78bp位点G/A突变与HDL亚类分布相关,G/A突变受试者血清HDL亚类颗粒呈减小的趋势,提示HDL成熟代谢可能受阻。AIM： To investigate apolipoprotein A-Ⅰ gene （Apo A-Ⅰ ） polymorphism and its relationship with senun HDL subclasses in patients with hyperlipidemia （HL）. METHODS： Apo A -Ⅰ genotype was assayed by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. The subclasses of serum HDL in 118 patients with hyperlipidemia and 109 healthy subjects were determined by two- dimensional gel electrophoresis conjunction with immunodetection method. RESUTS： Both in HL group and the control group, G/G and C/C genotypes were the most frequent at - 78 bp and ＋ 83 bp of Apo A - I gene, respectively. The frequency of rare A allele at - 78 bp in HL group was significantly higher than that in control group. In HL group, subjects with G/A mutation had higher serum levels of TG, Apo C - Ⅲ, pre β1 - HDL and HDL3a, and lower levels of HDL2a and HDL2b compared to the subjects with G/G genotype. CONCLUSION： The G/A transition in the - 78 bp position of the Apo A - I gene promoter in patients with hyperlipidemia is associated with HDL subclasses. There is a general shift toward smaller sized HDL, which, in turn, indicates that HDL maturation might be abnormal.

关 键 词：高脂血症 多态性 Apo A-Ⅰ基因 脂蛋白类 HDL 

分 类 号：R636[医药卫生—外科学]