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载脂蛋白E基因多态性与自发性蛛网膜下腔出血
作者: 阮健 孙晓川 谢延风
单位:重庆医科大学附属第一医院神经外科;
关键词: 载脂蛋白E 自发性蛛网膜下腔出血
分类号:
出版年·卷·期(页码):2008·34·第 11 期(0-0)
摘要:
载脂蛋白E(apolipoprotein E,ApoE)基因分为3种基因型和6种表现型,与受体相关蛋白结合后发挥其功能,在神经系统疾病中起到不同的作用。进一步将研究方向由编码区域深入到表达调控区域后显示,APOE基因多态性与疾病的相关性,不仅仅表现在质上(APOE编码区等位基因差异),而且也表现量上(表达调控区域启动子区差异导致ApoE表达量的差异)。近年来许多研究发现ApoE与自发性蛛网膜下腔出血(subarachnoid hem-orrhage,SAH)有密切关系。本文将近来对APOE基因多态性与SAH的研究进展综述如下。1 ApoE的生物学特性1.1 ApoE的基因多态性ApoE是Shore等[1-2]在1973年在正常人的极低密度脂蛋白(very low density lipoprotein,VLDL)中首先发现的,相对分子量约为34 kD。APOE的基因位点具有多态性,人类血浆中的ApoE有3种主要的异构体E2、E3、E4,分别由3个常见的等位基因ε2、ε3、ε4编码,形成6种表型:3种纯合子(ε2/2、ε3/3、ε4/4)和3种杂合子(ε2/2、ε2/4、ε3/4)。其基因型的区别在于第112位...
参考文献:

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