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APOE基因多态性分子生物学检测技术进展及评价 被引量:4

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摘要 载脂蛋白E(Apolipoprotein E,apoE代表载脂蛋白,APOE代表编码载脂蛋白的相应基因)是一种胆固醇转运蛋白,由肝、脾、肾等合成后进入血液循环广泛分布于全身。APOE具有三个等位基因APOEε2、APOEε3及APOEε4,它们主要的区别是其DNA序列上存在两个位点的碱基替代,造成它们所编码的apoE在第112位和第158位的氨基酸残基发生了相应的变化。APOEε2在两个位点上均为半胱氨酸(Cys),APOEε3在第112位为半胱氨酸,而第158位为精氨酸(Arg),APOEε4在两个位点上均为精氨酸。这种多态性导致在人群中产生了六种不同的表型,三种为纯合子(ε2/ε2,ε3/ε3,ε4/ε4),另三种为杂合子(ε2/ε3,ε2/ε4,ε3/ε4)。ε3是最常见的等位基因,ε3/ε3是最常见的基因型。
作者 郐莉 喻应贵
出处 《泸州医学院学报》 2007年第5期439-440,共2页 Journal of Luzhou Medical College
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参考文献17

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