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基因检测研究进展

原文传递
导出
摘要 视网膜色素变性（RP）是一组进行性的可致盲的遗传性视网膜疾病，以视网膜光感受器和色素上皮细胞变性为主要特征，发病率约为1／4000，全世界受累人数约为1百万人。RP具有明显的临床和遗传异质性。常染色体显性遗传视网膜色素变性（ADRP）占RP的20％，25％，目前共定位了21个位点，其中克隆了19个基因。由ADRP危害较为严重、发病率较高，近年来巳成为眼科遗传学研究的热点。此文对近年来研究进展做一综述。
作者 欧阳丽
机构地区 湖北省中医院眼科
出处 《中国实用眼科杂志》 CSCD 北大核心 2012年第6期640-645,共6页 Chinese Journal of Practical Ophthalmology
关键词 视网膜色素变性 基因检测 遗传
分类号 R774.13 [医药卫生—眼科]
  • 相关文献

参考文献29

  • 1Mansergh FC,Millington-Ward S,Kennan A,et alRetinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene[J].Am J Hum Genet, 1999,64(4) :971-985.
  • 2Kim KJ, Kim C,Bok J, et al.Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa[Jl.Molecular Vision,2011,17(95) :844-853.
  • 3Li SQ,Xiao XS,Wang PF,et al.Mutation spectrum and frequen- cy of the RHO gene in 248 Chinese families with retinitis pig- mentosa[J].Biochemical and Biophysical Research Communica- tions, 2010,401 ( 1 ) ..42-47.
  • 4Li T,Snyder WK,Olsson JE,et al.Transgenic mice carr'ying the dominant rhodopsin mutation P347S:evidence for defective vectorial transport of rhodupsin to the outer segments[J].Proc Natl Acad Sci, 1996,93(24) : 14176-14181.
  • 5Deretic D, Schmerl S, Hargrave PA, et al.Regulation of sorting and post-Golgi trakficking ot rhodopsin by its C-terminal se quence QVS(A) PA[J].Proc Natl Aead Sei, 1998, 95 (18): 10620-10625.
  • 6Wang DY,Chan WM,Tam PO,et al.Gene mutations in retinitis pigmentosa and their clinical implications[J].Clin Chim Acta, 2005,351(1) :5-16.
  • 7Vos WL, Vaughan S, Lall PY, et al.Expression and structural characterization of peripherin/RDS, a membrane protein implicated in photoreceptor outer segment morphology[J].European Biophysics Journal with Biophysics Letters,2010,39(4):679-688.
  • 8Kajiwara K, Hahn LB, Mukai S, et al.Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa[J ].Nature, 1991,354(6353) :480-483.
  • 9Lira KP, Yip SP, Cheung SC,et al.Novel PRPF31 and PRPH2 Mutations and Co-occurrence of PRPF31 and RHO Mutations in Chinese Patients With Retinitis Pigmentosa[J].Archives of Ophthalmology, 2009,127 (6) : 784-790.
  • 10Kajiwara K, Berson EL, Dryja TP, et al.Digenic retinitis pigmentosa due to mutations at the unlinked Peripherin/RDS and ROM1 loci[JJ.Science, 1994,264(5165) : 1604-1608.

二级参考文献41

  • 1Pagon RA. Syndromic retinal dystrophy. In: Rinaldi E, editor. Retinitis pigmentosa: present knowledge and outlook. Naples: Liviana Medicina, 1993.151-166.
  • 2Kajiwara K, Berson EL, Dryla TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM loci. Science, 1994, 264:1604-1608.
  • 3RetNet http://www.sph.uth.tmc.edu/RetNet/
  • 4Retina International http://www.retina-international.com/
  • 5OMIM http://www.ncbi.nlm.nih.gov/OMIM
  • 6Dryjia TP, Li T. Molecular genetics of retinitis pigmentosa. Hum Mol Genet, 1995, 4:1739-1743.
  • 7Nathans J, Hogness DS. Isolation and nucleotide sequence of the gene encoding human rhodopsin. Proc Nat Acad Sci USA, 1984, 81:4851-4855.
  • 8Briscoe AD, Gaur C, Kumar S. The spectrum of human rhodopsin disease mutations through the lens of interspecific variation. Gene, 2004,12:107-118.
  • 9Chan WM, Yeung KY, Pang CP, et al. Rhodopsin mutations in Chinese patients with autosomal dominant retinitis pigmentosa. Br J Ophthalmol, 2001, 85:1046-1048.
  • 10Rosenfeld PJ, Cowley GS, McGee TL, et al. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet, 1992, 1:209-213.

共引文献7

中国实用眼科杂志
2012年 第6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