期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

常染色体遗传型视网膜色素变性相关基因的研究进展 被引量：8

Progress in the gene-related study on autosomal retinitis pigmentosa
下载PDF
导出
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.
作者 覃泳杰 郭海科
机构地区 南方医科大学 广东省人民医院眼科广东省眼病防治研究所
出处 《眼科研究》 CSCD 北大核心 2009年第12期1159-1163,共5页 Chinese Ophthalmic Research
关键词 视网膜色素变性 常染色体 突变 致病基因 retinitis pigmentosa autosoma mutation pathogenic gene
分类号 R774.1 [医药卫生—眼科]
  • 相关文献

参考文献38

  • 1Yong RY,Chee CK, Yap EP. A two-stage approach identifies a Q344X mutation in the rhodopsin gene of a Chinese Singapore an family with autosomal dominant retinitis pigmentosa[ J ]. Ann Aead Med Singapore, 2005,34(1):94 -99.
  • 2Daiger SP, Bowne SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa [ J ]. Arch Ophthalmol, 2007, 125 ( 2 ) : 151 - 158.
  • 3Mordes D, Luo X, Kar A,et al. Pre-mRNA splicing and retinitis pigmentosa [J]. Mol Vision,2006,12:1259 - 1271.
  • 4Xia K,Zheng D,Pan Q, et al. A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa [ J ]. Mol Vision,2004,10:361 - 365.
  • 5陆莎莎,赵晨,崔云,李宁东,张秀梅,赵堪兴.我国常染色体显性遗传视网膜色素变性家系中PRPF31基因新的剪切位点突变[J].中华眼科杂志,2005,41(4):305-311. 被引量：5
  • 6Liu JY, Dai X,Sheng J,et al. Identification and functional characterization of a novel splicing mutation in RP gene PRPF31 [ J]. Biochem Biophys Res Commun,2008,367 ( 2 ) : 420 - 426.
  • 7Chakarova CF, Cherninkova S, Tournev I, et al. Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families [ J ]. Mol Vision, 2006,12:909 - 914.
  • 8Makarova OV, Makarov EM, Liu S, et al. Protein 61 K, encoded by a gent (PRPF31) linked to autosomal dominant retinitis pigmentosa,is required for U4/U6 * U5 tri-snRNP formation and pre-mRNA splieing[J]. EMBO J,2002,21 (5) : 1148 - 1157.
  • 9Schaffert N, Hossbach M, Heintzmann R, et al. RNAi knockdown of hPrp31 leads to an accumulation of U4/U6 di-snRNPs in Cajal bodies [ J]. EMBO J,2004,23 ( 15 ) : 3000 - 3009.
  • 10Wilkie SE, Vaclavik V, Wu H, et al. Disease mechanism for retinitis pigmentosa (RP11 ) caused by missense mutations in the splicing factor gene PRPF31 [ J]. Mol Vision ,2008,14:683 - 690.

二级参考文献41

  • 1丁琦,严良,陆豪,杨蕾,秦洁,赵婕,熊毅.mfERG在原发性视网膜色素变性病程中应用研究[J].眼科新进展,2006,26(10):778-779. 被引量：4
  • 2Wang Q, Chen Q, Zhao K, et al. Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet,2001,22:133-154.
  • 3Bird AC. Retinal photoreceptor dystrophies. Am J Ophthalmol,1995,119:543-562.
  • 4Vithana EN, Abu-Safieh L, Allen MJ, et al. A human homolog of yeast pre-mRNA splicing gene, PRPF31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell,2001,8:375-381.
  • 5Bowne SJ, Sullivan LS, Blanton SH, et al. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet,2002,11:559-568.
  • 6Keen TJ, Hims MM, McKie AB, et al. Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur J Hum Genet,2002,10:245-249.
  • 7Rebello G, Ramesar R, Vorster A, et al. Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. Proc Natl Acad Sci USA,2004,101:6617-6622.
  • 8Weidenhammer EM, Singh M, Ruiz-Noriega M, et al. The PRP31 gene encodes a novel protein required for pre-mRNA splicing in saccharomyces cerevisiae. Nucleic Acids Res,1996,24:1164-1170.
  • 9Brown JD, Beggs JD. Roles of PRP8 protein in the assembly of splicing complex. EMBO J,1992,11:3721-3729.
  • 10Makarova OV, Makarov EM, Liu S, et al. Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing. EMBO J,2002,21:1148-1157.

共引文献8

同被引文献62

引证文献8

二级引证文献15

眼科研究
2009年 第12期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部