常染色体遗传型视网膜色素变性相关基因的研究进展  

Progress in the gene-related study on autosomal retinitis pigmentosa

作　　者：覃泳杰[1] 郭海科[2] 

机构地区：[1]南方医科大学,广州510080 [2]广东省人民医院眼科广东省眼病防治研究所,广州510080

出　　处：《眼科研究》2009年第12期1159-1163,共5页Chinese Ophthalmic Research

摘　　要：视网膜色素变性(RP)是常见的致盲性眼病,具有高度的遗传性和表型异质性。RP致病基因的确立对探讨该病的发病机制、预防和治疗具有重要的意义。近年来,RP的研究有了新的进展,就常染色体显性遗传RP(adRP)与常染色体隐性遗传RP(arRP)相关基因的研究进行综述,归纳其中常见致病基因的作用及其突变发病的可能机制,为RP的研究提供一定参考。Retinitis pigmentosa（RP）is a common sight-threatening eye disease.RP is characterized by highly genetical and phenotypical heterogeneity.Identification of the causative genes of RP is the first step toward the understand of the molecular basis of RP and,subsequently,toward the prevention and treatment of RP.In recent years,there have been new progress in the study on RP.This review mainly focuses on recent advances in the gene-related studies of autosomal dominant RP（adRP）and autosomal recessive RP（arRP）with emphasis on the roles of common genes,as well as their possible mechanisms in RP in order to provide the essential reference for the genetics research of RP.

关 键 词：视网膜色素变性 常染色体 突变 致病基因 

分 类 号：R774.1[医药卫生—眼科]