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年龄相关性黄斑变性的遗传学研究进展
引用本文:刘琳琳. 年龄相关性黄斑变性的遗传学研究进展[J]. 临床眼科杂志, 2010, 18(5): 475-479
作者姓名:刘琳琳
作者单位:中国医学科学院,北京协和医学院,北京协和医院眼科,北京,100730
摘    要:年龄相关性黄斑变性(AMD)发病机制尚未明确,目前认为AMD是复杂疾病,受多基因和环境因素共同影响。迄今为止,采用基因组关联分析和连锁分析等方法已经发现多个AMD相关候选基因。其中包括ABCR基因、APOE基因、1q25-31:CFH基因、染色体10q26:PLEKHA1/LOC387715/HTRA1、C2,C3,FB基因、SERPING1基因、EFEMP1(Fibulin3)和Fibulin-5基因等。本文就AMD发病机制的分子遗传学研究进展进行综述。

关 键 词:年龄相关性黄斑变性  发病机制  分子遗传学  基因

The advances in the genetics of age-related macular degeneration
LIU Lin-lin. The advances in the genetics of age-related macular degeneration[J]. Journal of Clinical Ophthalmology, 2010, 18(5): 475-479
Authors:LIU Lin-lin
Affiliation:LIU Lin-lin,CHEN You-xin.(Department of Ophthalmology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College,Beijing 100730,China )
Abstract:Age-related macular degeneration is considered as complex diseases.The etiology and pathogenesis of AMD remain unknown.A complex interaction of genetic and environmental factors is thought to trigger the pathologic process of AMD.Up to now,multiple AMD-related candidate genes have been found by means of genome association analysis and linkage analysis and so on,including ABCR gene,APOE gene,CFH gene on chromosome 1q25-31,PLEKHA1/LOC387715/HTRA1 gene on chromosome 10q26,C2,C3,FB gene,SERPING1 gene,EFEMP1(Fibulin3)and Fibulin-5 gene and so on.The recent progresses of the molecular genetics in AMD were reviewed in this paper.
Keywords:Age-related macular degeneration  Pathogenesis  Molecular genetics Gene
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