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视锥细胞营养不良及锥-杆营养不良相关基因研究进展 被引量：5

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摘要 视锥细胞营养不良(COD)和锥-杆营养不良(CORD)均属于遗传性视网膜变性疾病。临床上并不少见。二者在表型上很难区分。已确定18个染色体位点的12个基因与二者发病有关。常见的如锥-杆细胞同源盒基因(CRX)、视网膜ATP结合盒式基因(ABCA4)、视网膜色素变性GTP酶调节因子基因(RPGR)等。本文按疾病遗传方式对COD和CORD相关基因及突变和基因型-表型关系予以综述。
作者 张晓慧 李杨
机构地区 首都医科大学附属北京同仁医院眼科中心北京市眼科研究所
出处 《国际眼科纵览》 2006年第6期368-372,共5页 International Review of Ophthalmology
关键词 视锥细胞营养不良 锥杆营养不良 基因 突变
分类号 R774 [医药卫生—眼科]
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参考文献10

  • 1Vervoort R,Lennon A,Bird AC,et al.Mutational hot spot with-in a new RPGRexonin X-linked retinitis pigmentosa[].Nature Genetics.2000
  • 2Abid A,Ismail M,Mehdi SQ,et al.Identification of novel muta-tions in SEMA4Agene associated with retinal degenerative diseas-es[].Journal of Medical Genetics.2006
  • 3Sohocki MM,Perrault I,Leroy BP,et al.Prevalence of AIPL1mutations in inherited retinal degenerative disease[].Molecular Genetics and Metabolism.2000
  • 4Johnson S,Halford S,Morris AG,et al.Genomic organisation and alternative splicing of human RI M1,a genei mplicatedin auto-somal dominant cone-rod dystrophy(CORD7)[].Genomics.2003
  • 5Shyjan AW,de Sauvage FJ,Gillett NA,et al.Molecular cloning of a retina-specific membrane guanylyl cyclase[].Neuron.1992
  • 6Mears AJ,Hiriyanna S,Vervoort R,et al.Remapping of the RP15locus for X-linked cone-rod degeneration to Xp11.4-p21.1,and identification of a de novoinsertioninthe RPGRexon ORF15[].The American Journal of Human Genetics.2000
  • 7Bright SR,Brown TE,Varnum MD.Disease-associated muta-tions in CNGB3produce gain of function alterations in cone cyclic nucleotide-gated channels[].Molecular Vision.2005
  • 8Downes SM,Holder GE,Fitzke FW,et al.Autosomal dominant cone and cone-rod dystrophy with mutationsinthe guanylate cyclase activator1A gene encoding guanylate cyclase activating protein-1[].Archives of Ophthalmology.2001
  • 9Newbold RJ,Deery EC,Walker CE,et al.The destabilization of human GCAP1by a proline toleucine mutation might cause cone-rod dystrophy[].Human Molecular Genetics.2001
  • 10Hameed A,Abid A,Aziz A,et al.Evidence of RPGRIP1gene mutations associated with recessive cone-rod dystrophy[].Journal of Medical Genetics.2003

同被引文献45

  • 1范先群,奚渭清,王仁趣,张芸芸,李海生,顾培武.视网膜电图双谷a波形成机理探讨[J].实用眼科杂志,1994,12(4):202-206. 被引量：3
  • 2李由 林旭初 魏锐利 等.遗传性视锥细胞营养不良三例[J].中华医学遗传学杂志,2000,17(5):339-339.
  • 3吴德正,刘妍,罗兰.视觉电生理仪测试方法和临床应用图谱学[M].北京:科学技术出版社,2006:179.
  • 4Delori FC ,Staurenghi G, Arend O, et al. In vivo measurement of lipofusin in Stargardt' s disease--fundus flavimaculatus [ J ]. lnwst Ophthahnol Vis Sci,I995,36:2327-2331.
  • 5廖菊生.黄斑疾病[A]{H}北京:人民卫生出版社,19962251-2273.
  • 6Miller S,Sandberg MA. Cone electroretinographic change during light adaptation in retinitis pigmentosa[J].{H}Investigative Ophthalmology & Visual Science,1991.2536-2541.
  • 7Lee K, Berg J S, Milko L, et al. High Diagnostic Yield of Whole Exome Sequencing in Participants with Retinal Dystrophies in a Clinical Ophthalmology Setting[J]. Am J Ophthalmol, 2015, 160(2): 354-363.e9.
  • 8Jin X, Qu L H, Meng X H, et al. Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology[J]. Mol Vis, 2014, 20: 553-560.
  • 9Zernant J, Collison F T, Lee W, et al. Genetic and clinical analysis of ABCA4-associated disease in African American patients [J]. Hum Mutat, 2014, 35(10): 1187-1194.
  • 10Kjellstrom U. Association between genotype and phenotype in families with mutations in the ABCA4 gene[J]. Mol Vis, 2014, 20: 89-104.

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国际眼科纵览
2006年 第6期

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