常染色体显性遗传视网膜色素变性致病基因的研究进展  

Progress in the research of disease genes in autosomal dominant retinitis pigmentosa

作　　者：邵杰[1] 黄波[1] 滕云[2] 

机构地区：[1]430030,武汉市,华中科技大学同济医学院98级7年制 [2]华中科技大学同济医学院医学遗传研究室

出　　处：《眼科新进展》2002年第4期286-288,共3页Recent Advances in Ophthalmology

摘　　要：视网膜色素变性 (retinitis pigmentosa,RP)是常见的遗传性视网膜变性疾病 ,它具有高度的遗传异质性 ,有不同的遗传方式和临床表型。目前已发现常染色体显性遗传型视网膜色素变性 (autosom al dominant retinitis pigmentosa,ADRP )的 12种基因 ,其中已被克隆的有 RHO,RDS,ROM1,RP1,NRL及 CRX,未被克隆的有 RP9,RP10 ,RP11,RP13,RP17及 RP18。本文主要介绍与Retinitis pigmentosa is a common genetic form of retinal degeneration. It is very heterogeneous, both genetically and phenotypically. At present 12 genes causing autosomal dominant retinitis pigmentosa have been identified. In these genes, RHO, RDS, ROM1, RP1, NRL and CRX have been cloned, while RP9, RP10, RP11, RP13, RP17 and RP18 have not yet been cloned. In this article we mainly introduce the newest progress of the research in several disease genes relevant to ADRP.

关 键 词：视网膜色素变性 研究进展 常染色体显性遗传 致病基因 

分 类 号：R774.1[医药卫生—眼科]