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视网膜色素变性与基因突变 被引量：1

Retinitis pigmentosa and gene mutation
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摘要 视网膜色素变性 (RP)是常见的致盲性遗传疾病 ,目前已发现有数十个基因的 15 0多个突变位点与其有关。与常染色体显性遗传、常染色体隐性遗传和性连锁遗传相对应的最常见的突变基因分别是视红紫质基因、杆体环鸟苷酸磷酸二脂酶基因和三磷酸鸟苷酸酶调节因子基因 ,其他的突变基因还有盘膜边缘蛋白基因 (常染色体显性遗传 )、杆体环鸟苷酸离子通道基因、RPE6 5基因、视黄醛结合蛋白基因和酪氨酸激酶受体基因 (常染色体隐性遗传 ) ,RP2基因(性连锁遗传 ) ,线粒体DNA细胞色素b基因等 ,每个突变基因对应于人群中不同的RP患者。基因治疗将成为治疗RP的根本方法 ,而对RP突变基因的定位、基因的生物学功能、突变所造成的分子病理机制的深入认识 ,是进行基因治疗的关键。 Retinitis pigmentosa is an inherited diseases to induce the blindness. As of the writing,over the 150 specific mutations in various gene have been linked to autosomal dominant RP,autosomal recessive RP and X linked RP. The most popular mutation gene is rhodopsin gene. Rod cGMP phosphodiesterase(cGMP PDE) gene and retinitis pigmentosa GTPase regulator gene(RPGR),respectively. Another mutation gene include peripherin/RDS gene(ADRP),rod GMP gated channel gene,RPE65 gene,CRALBP gene and receptor tyrosine kinase gene(ARRP),RP2 gene(X linked RP),cytochrome b gene of mitochondrial DNA. Each identified gene mutation account for a small percentage of RP patients. It is most important for gene therapy to investigate the location,biological function and pathology of the mutation gene.
作者 杨晓慧 孙葆忱
机构地区 首都医科大学附属同仁眼科中心 北京市眼科研究所
出处 《眼视光学杂志》 2002年第4期250-252 , ,共3页 Chinese Journal of Optometry & Ophthalmology
关键词 视网膜色素变性 基因 突变 生物学功能 常染色体显性遗传 常染色体隐性遗传 性连锁遗传 retinitis pigmentosa gene mutation biological function
分类号 R774.13 [医药卫生—眼科] Q754 [生物学—分子生物学]
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参考文献24

  • 1Farrar GJ, Mcwilliam P, Bradley DG, et al. Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity[J]. Genomics, 1999,8: 35 - 40.
  • 2Farrar GJ, Kenna P, Jordan SA, et al. A three-base- pair deletion in the peripherin/RDS gene in one form of retinitis pigmentosa[J]. Nature,1991,354:478 - 480.
  • 3Kajiwara K, Berson EL, Dryja TP. Gigenic retinitis pigmentosa due to mutations at the unliked peripherin/RDS and ROM1 ioci[J]. Science,1994,264:1604 - 1608.
  • 4Bowne SJ , Sullivan LS , Blanton SH, et al . Mutaions in the inosine mnophosphate dehydrogenase 1 gene( IMPDH1 ) catse the RP10 form of autosomaf dominant retinitis pigmentosa. Hum Mol Genet, 2002, 11(5) :559- 568.
  • 5Dreyer B,Tranebjaerg L, Brox V, et al. A commann ancestral origin of the frequent and widespread 2299del G USH2A mutation[J]. Am J Hum Genet,2001,69(1) :228-234.
  • 6Martinez Gimeno M, Maseras M, Baiget M, et al. Mutations P51 U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa[J]. Hum Mutat, 2001, 17(6) :520- 525.
  • 7Tzekov RT, Sohoc ki MM, Daiger SP, et al. Visual phenotype in patients with Arg41Gln and ala196 + 1bp mutations in the CRX gene[J]. Ophthalmic Genet, 2000, 21 (2) :89 - 99.
  • 8Gerber S, Rozet JM, Takezawa SI, et al. The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal(Marranos) ,survivors from the spanish inquisitil[J]. Hum Genet,2000,107(3) :276 - 284.
  • 9Rozet JM, Gerber S, Ghazi I, et al. Mutations of the retinal specific ATP binding transporter gene(ABGR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and stargardt disease: evidence of clinical heterogeneity at this locus[J]. J Med Genet,1999,36(6) :447 - 451.
  • 10Paloma E, Hjelmqvist L, Bayes M, et al. Novel mutations in the TULP1 gene catusing autosomal recessive retis pigmentosa[J]. Invest Ophthalmol Vis Sci,2000,41(3) :656- 659.

同被引文献27

  • 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
  • 2Hims MM,Diager SP,Inglehearnc F.Retintispigmenteosa:genes,protenineandprospects.Dev Opthalmol,2003;37:109-125
  • 3Humpries P,Kenna P,Farrar GJ.On the molecular geneticsof retivittis pigmentosa.Science,1992;256(5080):804-808
  • 4Bascom RA,Garcia-Heras J,Hsieh CL,Gerhard DS,Jone C,Francke V,Willard HF,ledbetler DH,Mclnnes RR.Localization of the photoreceptor gene ROM1 to human chromosome11 and mouse chromosome19:sublocalizationto human 11q13 between PGA and PYGN.AM Jhum Genet,1992;51(5):1028-1035
  • 5Drja TP,Hahn LB,Kajiwara K,Berson EL.Dominant and digentic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.Invest Ophthalmol Vis Sci,1997;38(10):1972-1982
  • 6Sullivan Ls,HeckenLively JR,Bownes J.Mutation in the novel retin-specific gene cause athosomal dominant retinitis pigmentosa.Nat Genet,1999;22(3):255-259
  • 7Guillonneau X,Piriev NI,Danciger M,Kozak CA,Cideciyan AV,Jacobson SG,Farber DB.A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 Locus.Hummol Genet,1999;8 (8):1541-1546
  • 8Bessant DAR,payne AM,Mittonk P,Wang QL,Swain PK,Plant C,Bird AC,Zack DJ,Swaroop A,Bhattacharya SS.A mutation in NRL is associated with autosomal dominant retinitis pigmantosa.Nature Genet,1999;21:355
  • 9Fei Y,Hughes TE.nuclear trafficking of photoreceptor protein crx:the targeting sequence and pathologic implications.Invest Ophtharnol Vis Sci,2000;41(10):2849-2856
  • 10Mitton KP,Swain PK,Chen S,Xu S,Zack DJ,Swaroo PA.The leucine zipper of NRL interacts with the CRX homeodomain A possible mechanism of transcriptional synergy in rhodopsin regulation.J Biol Chem,2000;275 (38);29794-29799

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眼视光学杂志
2002年 第4期

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