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显性遗传视网膜色素变性一家系的遗传分析

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摘要 目的对一个视网膜色素变性（retitritis pigmentosa，RP）家系进行基因诊断。方法选取已知基因附近及覆盖X染色体的微卫星标记，对该家系进行了连锁分析。PCR扩增了包括ORF15在内的GTP酶调节因子基因（retinitis pigmentosa GTPase regulator，RPGR）所有外显子及外显子内含子交界区，对家系先证者进行了序列分析，找到突变之后，直接对家系成员及101个正常对照进行测序分析，以确定该突变是否和RP共分离。结果连锁分析排除了已知的常染色体显性RP位点，对X染色体的连锁分析发现RP和RP-GR所在位置的DXS993和DXS1068连锁，直接对RPGR测序发现缺失突变，g．ORF15＋1166delA（c．2919delA）。该缺失造成移码突变及提前终止。该突变为de novo，并和该家系所有患者共分离，而在家系正常个体及101个对照中不存在该突变。结论RPGR新突变g．ORF15＋1166delA引起X连锁视网膜色素变性。这一研究结果揭示RPGR突变的可以引起不同的临床表型.
作者 丁千兵 曾峰 常伟 尹科
机构地区 浙江省天台县人民医院 安徽省宣城中心医院儿科 华中科技大学人类基因组研究中心
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2008年第5期593-596,共4页 Chinese Journal of Medical Genetics
基金 国家自然科学基金项目（30571677）,国家863项目（2002BA711A07）
关键词 视网膜色素变性 GTP酶调节因子 移码突变 X连锁
分类号 R686 [医药卫生—骨科学]
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参考文献29

  • 1Bhattacharya SS, Wright AF, Clayton JF, et al. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe LI. 28. Nature, 1984, 309 : 253-255.
  • 2Musarella MA, Burghes A, Anson-Cartwright L, et al. Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis. Am J Hum Genet , 1988,43:484-494.
  • 3Ott J, Bhattacharya S, Chen JD, et al. kocalizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci U S A, 1990,87:701-704.
  • 4Hardeastle AJ, Thiselton DL, Zito I, et al. Evidence for a new locus for X-linked retinitis pigmentosa (RP23). Invest Ophthalmol Vis Sci, 2000, 41 : 2080-2086.
  • 5Gieser L, Fujita R, Goring HH, et al. A novel locus (RP24) for X- linked retinitis pigmentosa maps to Xq26-27. Am J Hum Genet, 1998,63: 1439-1447.
  • 6Melamud A, Shen GQ, Chung D, et al. Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28. J Med Genet, 2006,43:e27.
  • 7Roepnmn R, van Duijnhoven G, Rosenberg T, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 3 : homology with the guanine-nucleotide-exchange factor RCCI. Hum Mol Genet, 1996,5:1035-1041.
  • 8Schwahn U, Lenzner S, Dong J, et al. Positional cloning of the gene for X-linked retinitis pgimentosa 2. Nat Genet, 1998,19 : 327-332.
  • 9Buraczynska M, Wu W, Fujita R, et al. Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Am J Hum Genet, 1997,61 : 1287-1292.
  • 10Meindl A, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCCI guanine nucleotide exchange factor is mutated in X-linked retinitis pi~aentosa ( RP3 ) . Nat Genet , 1996,13:3542.

二级参考文献15

  • 1Wang Q, Chen Q, Zhao K, et al. Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet,2001,22∶133-154.
  • 2Meindl A, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet, 1996,13∶35-42.
  • 3Wang Q, Chen J, Splawski I, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell, 1995, 80∶805-811.
  • 4Wang Q, Curran ME, Splawski I, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet, 1996, 12∶17-23.
  • 5Lathrop GM, Lalouel JM, Julier C, et al. Mutilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet,1985, 37∶482-498.
  • 6Yang Z, Peachey NS, Moshfeghi DM, et al. Mutations in the RPGR gene cause X-linked cone dystrophy. Hum Mol Genet, 2002,11∶605-611.
  • 7Vervoort R, Lennon A, Birt AC, et al. Mutational hot spot within a new RPGR exon in X-linked retinits pigmentosa. Nat Genet, 2000, 25∶462-466.
  • 8Vervoort R, Wright AF. Mutations of RPGR in X-linked retinitis pigmentosa (RP3). Hum Mutat,2002,19∶486-500.
  • 9Breuer DK, Yashar BM, Filippova E, et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet, 2002,70∶1545-1554.
  • 10Bader I, Brandau O, Achatz H, et al. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest Ophthalmol Vis Sci, 2003,44∶1458-1463.

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中华医学遗传学杂志
2008年 第5期

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