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

常染色体显性遗传视网膜色素变性致病基因的研究进展 被引量：2

Progress in the research of disease genes in autosomal dominant retinitis pigmentosa
下载PDF
导出
摘要 视网膜色素变性 (retinitis pigmentosa,RP)是常见的遗传性视网膜变性疾病 ,它具有高度的遗传异质性 ,有不同的遗传方式和临床表型。目前已发现常染色体显性遗传型视网膜色素变性 (autosom al dominant retinitis pigmentosa,ADRP )的 12种基因 ,其中已被克隆的有 RHO,RDS,ROM1,RP1,NRL及 CRX,未被克隆的有 RP9,RP10 ,RP11,RP13,RP17及 RP18。本文主要介绍与 Retinitis pigmentosa is a common genetic form of retinal degeneration. It is very heterogeneous, both genetically and phenotypically. At present 12 genes causing autosomal dominant retinitis pigmentosa have been identified. In these genes, RHO, RDS, ROM1, RP1, NRL and CRX have been cloned, while RP9, RP10, RP11, RP13, RP17 and RP18 have not yet been cloned. In this article we mainly introduce the newest progress of the research in several disease genes relevant to ADRP.
作者 邵杰 黄波 滕云
机构地区 [ 华中科技大学同济医学院医学遗传研究室
出处 《眼科新进展》 CAS 2002年第4期286-288,共3页 Recent Advances in Ophthalmology
关键词 视网膜色素变性 研究进展 常染色体显性遗传 致病基因 retinitis pigmentosa autosomal dominant disease genes
分类号 R774.1 [医药卫生—眼科]
  • 相关文献

参考文献19

  • 1[1]Pagon RA, Daiger SP. Reitnitis pigmentosa overview. http://www.geneclinics.org
  • 2[2]Hu DN. Genetic aspects of retinitis pigmentosa in China[J]. Am J Med Genet 1982;12(1):51-56.
  • 3[3]Dryja TP, McEvoy JA, Mc Gee TL, Berson EL. Novel rhodopsin mutation Gly114Val and Gln184Pro in dominant retinitis pigmentosa[J]. Invest Ophthalmol Vis Sci 2000;41(10):3124-3127.
  • 4[4]Molday RS, Hicks D, Mokday L. Peripherin, A rim-specific membrane protein of rod outer segment discs[J]. Invest Ophthalmol Vis Sci 1987; 28(1): 50-61.
  • 5[5]Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa[J]. Nature 1991; 354(6353): 480-483.
  • 6[6]Farrar GJ, Jordan SA, Kenna P, Humphries MM, Kumar-Singh R, McWilliam P, et al. Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6[J]. Genomics 1991; 11(4):870-874.
  • 7[7]Goldberg AF, Molday RS. Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1[J]. Proc Natl Acad Sci USA 1996; 93(24): 13726-13730.
  • 8[8]Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, et al. Mutation in the RP1 gene causing autosomal dominant retinitis pigmentosa[J]. Hum Mol Genet 1999; 8(11): 2121-2128.
  • 9[9]Pierce EA. A novel photoreceptor gene is a candidate disease gene for RP[J]. Invest Ophthalmol Vis Sci 1999;40: S602.
  • 10[10]Sullivan LS, Heckenlively JR, Bowne SJ, Zuo J, Hide WA, Gal A, et al. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa[J]. Nat Genet 1999; 22(3):255-259.

同被引文献40

  • 1庄文娟,盛迅伦.常染色体显性遗传视网膜色素变性的相关基因研究概况[J].国际眼科杂志,2004,4(5):868-872. 被引量：9
  • 2王丹艺,范宝剑,陈伟民,谭霭仙,蒋蔚宜,林顺潮,彭智培.香港地区汉族人视紫红质基因和视网膜色素变性1基因与视网膜色素变性的双基因关联分析[J].中华医学杂志,2005,85(23):1613-1617. 被引量：9
  • 3布娟,李宁东,赵堪兴,赵晨,陆莎莎,陈薇英.视紫红质基因在显性视网膜色素变性家系的突变筛查[J].天津医药,2005,33(10):617-620. 被引量：1
  • 4Kikawa E, Nakazawa M, Chida Y, et al. A novel mutation (Asn244Lys) in the peripherln/RDS gene causing autosomal dominant retinitis pigmentosa associated with Bull's Eye maculopathy detected by nonradioisotopic SSCP. Genomics, 1993,20:137-139.
  • 5Mansergh FC, Millington-Ward S, Kennan A, et al. Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. Am J HumGenet, 1999, 64:971 -985.
  • 6Pagon RA, Daiger SP. Retinitis pigmentosa overview, http:// www. geneclinies. org.
  • 7Dryja TP, Hahn LB, Cowley GS. et al. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl AcadSciUSA, 1991, 88: 9370- 9374.
  • 8Wang DY, Chan WM, Tam PO, et al. Gene mutations in retinitis pigmentosa and their clinical implications. Clin Chim Acta, 2005,351: 5-16.
  • 9Shen LX, Basilion JP, Stanton VP, et al Single-nucleotide plymorphisms can cause different structural folds of mRNA. Proc Natl Acad Sei USA, 1999, 96:7871-7876.
  • 10Hwa J, Klein-Seetharaman J, Khorana H G. Structure and function in rhodopsin: mass spectrometric identification of the abnormal intradiscal disulfide bond in misfold retinitis pigmentosa mutants. Proc Natl Acad Sei USA, 2001, 98:4872 -4876.

引证文献2

二级引证文献12

眼科新进展
2002年 第4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