文档介绍：载脂蛋白E基因启动子多态性与年龄相关性黄斑变性的关系
【摘要】目的:探讨载脂蛋白E(APOE)基因启动子(_219G/T)多态性与年龄相关性黄斑变性(AMD)发病危险性的关系。方法:用聚合酶链反应_限制性片断长度多态性分析法对AMD组(50例)和对照组(95例)的APOE _219G/T基因型做出鉴定。结果:两组间不存在_219G/T基因型频率分布的差异(P>039)。结论:APOE基因_219G/T多态性与AMD发病危险性无关。
【关键词】年龄相关性黄斑变性载脂蛋白E 多态性
Relationship between the Apolipoprotein E Promoter Polymorphisms and the Risk of Age_related Macular DegenerationSHAO Yun_liang1,QIN Yan_li1,YI Xiao_guang1,SONG Yue1,YAN Yi_nong2(1STU/CUHK Joint Shantou International Eye Center,Shantou 515041,China;2Zhanjiang ALLAD Eye Center, Zhanjiang 524043,China)
[Abstract]Objective: To study the relationship between apolipoprotein E(APOE)promoter(_219G/T)polymorphisms and the risk of age_related macular degeneration(AMD). Methods: APOE _219G/T g
enetype in AMD group(50 cases)and control group(95 persons)was identified by polymerase chain reaction and restriction fragment length polymorphism genotyping technique. Results: No significant difference was found between two groups on the distribution of APOE _219G/Tgenotype. Conclusion: The APOE _219G/T polymorphisms do not contribute to AMD risk.
[Key Words]age_related macular degeneration;apolipoprotein E;polymorphism
在西方发达国家,年龄相关性黄斑变性(AMD)是导致老年人视力严重损害甚至失明的一种常见疾病,病理学研究发现它的发生与异常脂肪代谢及转运相关。遗传学的研究证实它的发生与载脂蛋白E(APOE)基因密切相关[1,2]。APOE蛋白是神经系统重要的转运蛋白,APOE基因及基因启动子(_219G/T)具有多态性,启动子的突变显著降低APOE基因的表达并进而影响APOE蛋白的功能[3,4]。目前还未见有关APOE基因启动子多态性与AMD发病危险性关系的报道,