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原发性开角型青光眼的分子遗传学进展 被引量:2

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摘要 青光眼分子遗传学研究是当前眼科学领域的热点之一,一些原发性开角型青光眼(POAG)的致病基因相继定位于相应的染色体上,并进行基因的克隆、测序、表达、调控及突变分析。本文重点就与POAG有关的OPTN基因、OPA1基因的发现、定位、结构和突变研究进行综述。
出处 《国外医学(眼科学分册)》 2004年第3期195-198,共4页 Foreign Medical Sciences(Section of Ophthalmology )
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  • 1Schwamborn K, Weil R, Courtois G, et al. Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway. J Biol Chem, 2000, 275(30):22780-22789.
  • 2Aung T, Ocaka L, Ebenezer ND, et al. Investigating the association between OPAl polymorphisms and glaucoma: comparison between normal tension and high-tension primary open-angle glaucoma. Hum Genet, 2002,110(5): 513-514.
  • 3Li Y,Kang J ,Horwitz MS et al. Interaction of an adenovirus E3 14.7 kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains. Mol Cell Biol, 1998,8:1601-1610.
  • 4Wirtz MK, Samples JR, Kramer PL, et al. Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. Am J Hum Genet, 1997, 60(2) :296-304.
  • 5Hattula K, Peranen J. FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis. Curr Biol,2000,10(24): 1603-1606.
  • 6Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol,1996, 80(5): 389-393.
  • 7Faber PW, Barnes GT, Srinidhi J, et al. Huntingtin interacts with a family of WW domain proteins. Hum Mol Genet, 1998,7:1463.
  • 8Moreland RJ, Dresser ME, Rodgers JS, et al. Identification of a transcription factor IIIA-interacting protein. Nucleic Acids Res.2000, 1 ;28(9): 1986-1993.
  • 9Vittitow J, Borras T. Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure. Biochem Biophys Res Commun, 2002,298 (1): 67-64.
  • 10Rezaie T, Child A, Hitchings R, et al. Adult-onset primary openangle glaucoma caused by mutations in optineurin. Science, 2002,8:295(5557): 1077-1079.

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