中国视网膜色素变性相关基因研究现状  

Retinitis pigmentosa-related gene researches in China

作　　者：闫光辉[1] 盛迅伦[2] 

机构地区：[1]宁夏医科大学2009级研究生,银川750004 [2]宁夏回族自治区人民医院眼科医院眼科

出　　处：《中华眼底病杂志》2011年第5期471-476,共6页Chinese Journal of Ocular Fundus Diseases

摘　　要：目的分析20年来中国视网膜色素变性（RP）相关基因研究现状。方法回顾性分析。通过检索中国知网（CNKI）中国学术文献网络出版总库、美国国家生物技术信息中心、人类基因突变数据库、人类基因组变异协会等数据库及查阅1991～2011年发表的相关文献，统计已研究的RP相关基因种类和研究结果，并与国外相关研究进行对比。结果迄今已发现60个与RP相关的基因。我国自1991年开始开展RP相关基因的筛查。迄今为止，共有29所医院和研究机构，收集300个RP家系和1572例散发型RP患者，对17个RP相关基因进行了研究，发表RP基因突变的文献66篇，发现239个突变，其中致病性突变131个；关于基因治疗的文献有4篇。我国RP患者中，视紫红质（RH0）、特异性光感受器细胞核受体和RP1基因突变的发生率分别为2．0％、2．9％和1．0％。关于RP基因型与临床表型关系的研究较少，发表文献15篇，主要集中在ADRP致病基因RH0、视网膜变性慢（RDS）、RP1和RP三磷酸鸟苷酶调节子（RPGR，又名RP3）的突变热点区域。国外关于RP基因筛查的文献有718篇，发现2000多个突变，其中致病性突变352个；关于RP基因治疗的文献有391篇。RHO、RDS和RP1基因是导致白种人群ADRP最主要的3个基因，基因突变的发生率分别为25％～50％、8％、5％～10％。RPGR基因是导致白种人群XLRP最主要的基因，基因突变的发生率为70％～80％，其中外显子开放阅读框15的突变频率最高，约为50％～60％。结论我国已对17个RP相关基因进行了研究，发现了131个致病性突变；RP基因治疗尚处于起步阶段。与国外研究相比存在较大差距。Objective To review retinitis pigmentosa （RP）-related gene researches in China. Methods RP genes and RP gene therapy as key words were searched from those online databases including China Knowledge Resource Integrated Database of China National Knowledge Infrastructure （CNKI）, National Center for Biotechnology Information （NCBI）, Human Gene Mutation Database （HGMD）, and Human Genome Variation Society （HGVS）. Related papers written by authors from China or other countries, published from 1991 to 2011 were collected for analysis. Results Overall 60 RP-related genes have been identified now. Chinese researchers from 29 hospitals and research institutes confirmed 17 RP-related gene changes （239 mutations, 131 of them are pathogenic） in 300 RP families and 1572 sporadic RP patients from 1991 to 2011, as reported in 66 papers. Mutations in rhodopsin （RHO） gene, NR2E3 gene and RP1 gene were found in 2.0%, 2.9% and 1.0% of Chinese RP patients respectively. The relationship between genotypes and clinical phenotypes were investigated in 15 papers, including RHO gene, RDS gene, RP1 and RPGR or RP3 gene in ADRP families. Gene therapy for RP has been investigated in 4 papers. Seven hundred and eighteen papers about RP gene-mutation screening have been published from other countries, and more than 2000 variants were identified which including 352 disease-causing mutations. Mutations of RHO gene, RDS and RP1 were found in 25% - 50%, 8% and 5% - 10% of ADRP patients in Caucasian populations. RPGR mutations were found in 70% - 80% of XLRP patients in Caucasian populations, and 50% - 60% of mutations are identified in open reading frame （ORF） 15. Totally 391 papers about gene therapy for RP have been published. Conclusions Seventeen RP-related genes have been studied and 131 pathogenic mutations were found in China. Considering Chinese population, our RP research is still behind other countries.

关 键 词：视网膜炎 色素性/遗传学 视网膜炎 色素性/治疗 基因疗法 突变 

分 类 号：R774.13[医药卫生—眼科]