期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

青光眼的分子遗传学研究进展

Recent advances in molecular genetics of glaucomas
下载PDF
导出
摘要 青光眼是多因素多基因遗传性眼病,许多学者就其遗传学基础进行了大量研究,明确了部分致病基因的结构和功能。本文对近5a来青光眼分子遗传学及其病理生理机制的研究进展进行综述。 Glaucoma is a group of multiple factor and polygenic inheritance diseases. The basic genetics underline them still remains inexplicit, whereas parts of the causative genes＇ structure and function have been identified. We reviews the recent advances in the researches of pathologic and physiologic mechanisms.
作者 杜静 刘苏
机构地区 重庆医科大学附属第二医院眼科
出处 《眼科新进展》 CAS 2006年第5期394-396,共3页 Recent Advances in Ophthalmology
关键词 青光眼 分子遗传学 发病机制 glaucoma molecular genetics pathogenesis
分类号 R775.1 [医药卫生—眼科]
  • 相关文献

参考文献34

  • 1Michels-Rautenstrauss K,Mardin C,Wakili N,Junemann AM,Villalobos L,Mejia C,et al.Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients[J].Hum Mutat 2002;20(6):479-480.
  • 2Markandaya M,Ramesh TK,Selvaraju V,Dorairaj SK,Prakash R,Shetty J,et al.Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma[J].Ophthalmic Genet 2004;25(1):11-23.
  • 3Karali A,Russell P,Stefani FH,Tamm ER.Localization of myocilin/trabecular meshwork--inducible glucocorticoid response protein in the human eye[J].Invest Ophthalmol Vis Sci 2000;41(3):729-740.
  • 4Jacobson N,Andrews M,Shepard AR,Nishimura D,Searby C,Fingert JH,et al.Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor[J].Hum Mol Genet 2001;10(2):117-125.
  • 5Mackey DA,Healey DL,Fingert JH,Coote MA,Wong TL,Wilkinson CH,et al.Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation[J].Arch Ophthalmol 2003;121(8):1172-1780.
  • 6Samples JR,Kitsos G,Economou-Petersen E,Steinkamp P,Sykes R,Rust K,et al.Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis[J].Clin Genet 2004;65(1):40-44.
  • 7Rezaie T,Child A,Hitchings R,Brice G,Lauri M,Coca-Prados M,et al.Adult-onset primary open-angle glaucoma caused by mutations in optineurin[J].Science 2002;295(5557):1077-1079.
  • 8Leung YF,Fan BJ,Lam DS,Lee WS,Tam PO,Chua JK,et al.Different optineurin mutation pattern in primary open-angle glaucoma[J].Invest Ophthalmol Vis Sci 2003;44(9):3880-3884.
  • 9陈建华,徐亮,李杨,董冰.原发性开角型青光眼视神经病变诱导反应蛋白基因突变的研究[J].中华医学杂志,2004,84(13):1098-1102. 被引量：6
  • 10Toda Y,Tang S,Kashiwagi K,Mabuchi F,Iijima H,Tsukahara S,et al.Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma[J].Am J Med Genet A 2004;125(1):1-4.

二级参考文献15

  • 1Vittiow JL, Borras T. Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure. Biochem Biophys Res Commun ,2002,298:67-74.
  • 2Rezaie T, Child A, Hitchings R, et al. Adult-onset primary openangle glaucoma caused by mutations in optineurin. Science, 2002,295:1077-1079.
  • 3Dandona L, Dandona R, Srinivas M, et al. Open-angle glaucoma in an urban population in Southern India: the Andhra Pradesh eye disease study. Ophthalmol, 2000,107 :1702-1709.
  • 4Dandona L, Dandona R, Mandal P, et al. Angle-closure glaucoma in an urban population in southern India. The Andhra Pradesh eye disease study. Ophthalmol, 2000, 107: 1710-1716.
  • 5Tang S, Toda Y, Kashiwagi K, et al. The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene. Hum Genet, 2003 , 113:276-279.
  • 6Leung YF, Fan B J, Lam DS, et al. Different optineurin mutation pattern in primary open-angle glaucoma. Invest Ophthalmol Vis Sci,2003 ,44:3880-3884.
  • 7Wiggs JL, Auguste J, Allingham RR, et al. Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. Arch Ophthalmo1,2003 ,121:1183.
  • 8Stoiloc I, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma ( Buphthalmos ) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet, 19
  • 9Stoiloc I, Alozie AI, Child A, et al. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. AmJ Hum Genet,1
  • 10Schwamborn, K, Courtois WG, Whiteside ST, et al. Phorbol esters and cytokines regulate the expression of the NEMO-related protein ,a molecule involve in a NF-kappa B-independent pathway. J Biol Chem, 2000,275:22780-22789.

共引文献5

眼科新进展
2006年 第5期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部