遗传性视网膜疾病的基因研究进展

遗传性视网膜疾病是临床上最常见且危害最严重的眼科遗传性致盲疾病,主要包括各种类型的视网膜色素变性、Leber先天性黑朦、先天性静止性夜盲、卵黄样黄斑营养不良、Stargardt病等.人类基因组计划的完成及相关遗传学技术的广泛应用为遗传性视网膜疾病的基因研究提供了有效手段,目前已经取得了一系列突破性进展,特别是等位基因特异性引物延伸芯片技术的应用,极大地提高了遗传性视网膜疾病基因突变筛查的进度,到目前为止,已经鉴定出46个与遗传性视网膜疾病相关的致病基因和2497个突变位点.遗传性视网膜疾病最根本的治疗方法是基因治疗,而进行基因治疗的前提是首先要筛查到致病基因.因此有必要对国内外近年来有关遗传性视网膜疾病的基因研究近况进行综述,以供眼科同道参考.

Progress in gene studies of hereditary retinal diseases

Hereditary retinal diseases (HRDs),including retinitis pigmentosa,Leber's congenital amaurosis,congenital stationary night blindness,vitelliform macular dystrophy,Stargardt macular dystrophy,ete.,are the most common and severe hereditary ocular diseases,which are closely associated with blindness.With the accomplishment of human genome project and the widespread application of genetic study techniques,the way leading to understanding of gene mutations of HRDs has been paved.Many encouraging breakthroughs of gene therapy studies have been made.Among them,the arrayed primer extension chip (Apex) technology greatly improved the efficiency of mutant gene screening of HRDs.Till now,46 pathogenic genes and 2497 mutation loci have been identified to be related to HRDs.Gene therapy is one of the key treatments for HRDs.The disease causing mutant gene must be detected before the application of gene therapy.This paper reviews the latest progress in the study of gene mutations in HRDs.