摘要
视网膜色素变性(RP)是由于视网膜感光细胞和色素上皮细胞变性导致夜盲和进行性视野缺损的一种常见的、遗传性、致盲性眼底病,具有较大的临床和遗传异质性。迄今通过连锁分析和侯选基因筛查,已有14个常染色体显性遗传ADRP;20个常染色体隐性遗传ARRP和5个X-染色体连锁遗传型XLRP位点被定位,其中32个基因已被克隆,每种遗传方式都有多个基因被克隆。对于这些致病基因的结构、突变及其功能目前已经有了新的研究进展。
RentiniUs pigmentosa (RP) comprise a genetically and clinically heterogeneous group of disorders that are characterized by photoreceptor cell and pigment epithelium of the retina gradual degeneration to night blindness, peripheral-visual-field loss. At present there are 14 ADRP, 20 ARRP and 5 XLRP mapped. In these genes, 32 genes have been cloned through linkage analysis and electing of gene. This article reviews the newest progress of the virulence gene research on consUtuUon, heterogeny and function.
出处
《国际眼科杂志》
CAS
2006年第3期654-657,共4页
International Eye Science
基金
中国国家自然科学基金资助项目(No.302600113)~~