常染色体显性遗传性视网膜色素变性基因型-表型研究进展  

Study on genotype-phenotype of autosomal dominant retinitis pigmentosa

作　　者：梁丽娜[1] 庄曾渊[1] 杨钧[1] 

机构地区：[1]100040,北京,中国中医研究院眼科医院

出　　处：《眼科研究》2003年第4期446-448,共3页Chinese Ophthalmic Research

基　　金：国家自然科学基金资助项目(30171173)

摘　　要：视网膜色素变性(RP)是视网膜感光细胞和色素上皮细胞变性导致的最常见的遗传性致盲眼底病,具有高度的遗传异质性及临床异质性。常染色体显性遗传性视网膜色素变性(ADRP)是较为常见的遗传方式。介绍4种主要的ADRP致病基因及其产物的结构和功能,分析遗传缺陷导致视网膜色素变性的机制,并对相关基因的临床表型研究进行了归纳总结。Retinitis pigmentosa( RP) is a common genetic: eye disease caused by degeneration of photoreceptor and retinal pigment epithelium, it has great genetic: and clinical heterogeneity. Four main mutation genes of autosomal dominant retinitis pigmentosa( ADRP) are listed, the mechanism of retinal degeneration induced by the mutation defects and an overview on the study of genotype-phenotype correlation are analyzed and reviewed in this article.

关 键 词：常染色体显性遗传性 视网膜色素变性 基因型 表型 研究进展 

分 类 号：R774.1[医药卫生—眼科]