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中国人一个显性视网膜色素变性家系8号染色体连锁分析 被引量：5

Linkage analysis of 8chromosome in a Chinese family with autosomal dominant retinitis pigmentosa
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摘要 目的用连锁分析法对中国人一个显性视网膜色素变性家系8号染色体进行分析,确定致病基因。方法随机选取8号染色体RP1基因上下约10厘摩(cm)范围内的10对微卫星标记(marker),确立单倍体型,用两点法计算最大优势对数(LODSCORE)值。结果所选微卫星标记与该家系表型间最大LOD值小于1。结论RP1基因可能为该家系的非致病性基因,用连锁分析法进行致病基因排除对最终确立致病基因所在染色体的范围具有重要的价值。 Objective To map RP1gene on chromosome 8in a Ch in ese family with autosomal dominant retinitis pigmentosa.Methods Ten microsate llite markers were selected from the region of approximately10centimorgans (c m)harboring RP1Haplotype was determined by6%polyacrylamide denaturing gels e lectrophoresis.Two-point linkage analysis was performed using MLINK.Results The Lod Score of each marker vs adRP are below1.Conclusion The phenotype of th is family is not caused by mutation of RP1gene
作者 李宁东 李扬 赵堪兴 陈薇英 陆莎莎 王立 王黎明 单晓艳
机构地区 天津医科大学 北京同仁眼科中心
出处 《眼科研究》 CSCD 北大核心 2004年第1期92-94,共3页 Chinese Ophthalmic Research
基金 国家自然科学基金资助(39825510)
关键词 视网膜色素变性 染色体 连锁分析 显性遗传 autosomal dominant retinitis pigmentosa linkage analysis RP1chromosome
分类号 R774.1 [医药卫生—眼科]
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参考文献8

  • 1[1]Wang Q,Chen QY,Zhao KX,et al. Update on the molecular genetics of retinitis pigmentosa[J].Ophthalmic Genetics,2001, (22)3:133
  • 2[2]Bowne SJ, Daiger SP, Hims MM, et al. Mutations in the RP1gene causing autosomal dominant retinitis pigmentosa [J]. Hum Mol Genet, 1999,8:2121
  • 3[3]Xu SY,Denton M,Sullivan L,et al. Genetic mapping of RP1on 8q11-12in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical resigion to 4 cm between D8S601 and D8S285 [J].Hum Genet, 1996,98:741
  • 4[4]Pierce EA,Quinn T,Meehan T,et al. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa[J]. Nat Genet, 1999,22:248
  • 5[5]Sullivan LS,John RH,Bowne SJ,et al. Mutations in a novel retinappecific gene cause autosomal dominant retinitis pigmentosa [J]. Nat Genet, 1999,22:255
  • 6[6]Guillonneau X,Piriev NI,Danciger M,et al. A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus[J]. Hum Mol Genet, 1999, 8:1541
  • 7[7]Berson EL,Grimsby JL,Scott M.A. ,et al. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1) [J]. Invest Ophthalmol Vis Sci, 2001,42:2217
  • 8[8]Jacobson SG,Cideciyan AV,Iannaccone A,et al. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa[J]. Invest Ophthalmol Vis Sci, 2000,41 (7): 1898

同被引文献24

  • 1朱静,张晓莉,府伟灵.X性连锁视网膜色素变性中的RPGR基因的研究进展[J].现代生物医学进展,2006,6(12):112-114. 被引量：1
  • 2崔颖,罗光伟,关天芹,江福钿,刘杏.原发性视网膜色素变性合并黄斑板层裂孔及囊样水肿一例[J].眼科研究,2007,25(4):268-268. 被引量：2
  • 3Rivolta C,Sharon D,DeAngelis MM,et al.Retinitis pigmentosa and allied diseases:numerous diseases,genes,and inheritance patterns[J].Hum Mol Genet,2002,11:1219
  • 4Wang Q,Chen Q,Zhao K,et al.Update on the molecular genetics of retinitis pigmentosa[J].Ophthalmol Genet,2001,22(4):133
  • 5Andreasson S,Breuer DK.Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and PRGR-ORF15 genes[J].Ophthalmol Genet,2003,24(4):215
  • 6Pusch CM,Broghammer M.Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa[J].Hum Mutat,2002,20(5):405
  • 7RIVOLTA C,SHARON D,DEANGELIS M M,et al.Retinitis pigmentosa and allied diseases:numerous diseases,genes,and inheritance patterns[J].Hum Mol Genet,2002,11(10):1219-1227.
  • 8WANG Q,CHEN Q,ZHAO K,et al.Update on the molecular genetics of retinitis pigmentosa[J].Ophthalmic Genet,2001,22(3):133-154.
  • 9ANDREASSON S,BREUER D K,EKSANDH L,et al.Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes[J].Ophthalmic Genet,2003,24(4):215-223.
  • 10PUSCH C M,BROGHAMMER M,JURKLIES B,et al.Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa[J].Hum Mutat,2002,20(5):405.

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眼科研究
2004年 第1期

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