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 )
参考文献26
-
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.
同被引文献70
-
1葛坚,卓业鸿,郭彦,明文玉,银巍.Gene mutation in patients with primary open angle glaucoma in a pedigree in China[J].Chinese Medical Journal,2000(3):3-5. 被引量:6
-
2李中国,张虹.MYOC/TIGR基因与原发性开角型青光眼[J].眼科研究,2004,22(6):669-672. 被引量:5
-
3姚红艳,程景煜,范宝剑,谭霭仙,谭智勇,王丹艺,林顺潮,彭智培.原发性开角型青光眼患者小梁网糖皮质激素诱导反应蛋白和视神经病变诱导反应蛋白基因多态性的研究[J].中华医学杂志,2006,86(8):554-559. 被引量:4
-
4Bao Jian Fan Dexter Y. L Leung Dan Yi Wang Stéphane Vincent Raymond Pancy O. S. Tam Dennis S. C. Lam Chi Pui Pang 王婷(译).青年型开角型青光眼的中国家系的新型Myocilin基因突变[J].美国医学会眼科杂志(中文版),2006,18(4):256-256. 被引量:5
-
5Allingham RR, Shields MB. Shields' Textbook of Glaucoma [M]. Sixth ed. Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins Health,2011 : 1-656.
-
6Thylefors B ,Negrel AD. Tile global impact of glaucoma [J]. Bull World Health Organ, 1994,72 ( 3 ) : 323 -326.
-
7Sheffield VC ,Stone EM, Alward WL, et al. Genetic linkage of familial open angle glaucoma to chromosome lq21-q31 [J]. Nat Genet, 1993, 4( 1 ) :47-50.
-
8Stone EM,Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma[J]. Science, 1997,275 ( 5300 ) : 668-670.
-
9Fingert JH, Heon E, Liebmann JM, et al. Analysis nf myocilin mutations in 1703 glaucoma patients from five different populations[J]. Hum Mol Genet, 1999,8 ( 5 ) : 899-905.
-
10Allingham RR, Liu Y, Rhee DJ. The genetics of primary open-angle glaucoma : a review[J]. Exp Eye Res, 2009,88 (4) : 837 - 844.
二级引证文献20
-
1李秀萍,陆桂秀.青光眼围术期护理进展[J].中国医药指南,2012,10(22):99-100. 被引量:8
-
2秦书娟,刘伟,季健.正常眼压性青光眼相关基因位点的研究[J].中国实用眼科杂志,2012,30(12):1394-1396.
-
3徐志红,陈花兰.青光眼患者健康教育中的最佳路径[J].中医学报,2013,28(B08):537-538.
-
4杨玲,朱莉静,宋波.不同手术方式治疗青光眼术后硬核白内障的临床疗效观察[J].实用临床医药杂志,2014,18(5):54-57. 被引量:9
-
5周晓敏,樊宁,刘旭阳.青光眼的分子遗传学研究进展[J].中华实验眼科杂志,2015,33(3):263-269. 被引量:13
-
6刘晓红,杨洁,刘璐,陈晓明,王云,牛静宜,刘旭阳.一青光眼大家系的致病基因筛查研究[J].国际眼科杂志,2015,15(8):1375-1377.
-
7甘小林,黄钰.小梁切开术治疗原发性婴幼儿型青光眼的远期疗效及其相关影响因素[J].国际眼科杂志,2015,15(10):1760-1762.
-
8张放,文雯,朱文卿,沙炎,叶昕裴,王申江.原发性青光眼视放射损害的磁共振弥散张量成像研究[J].中国医学计算机成像杂志,2016,22(1):17-21. 被引量:4
-
9曾伟燕,李慧英,郭月珍,郭镜华.96例超声乳化术联合人工晶体植入术治疗青光眼的疗效及护理[J].全科护理,2016,14(13):1350-1352. 被引量:4
-
10姜彬.青光眼小梁切除术后不同眼球按摩方式对眼压及手术成功率的影响[J].护士进修杂志,2016,31(14):1314-1316. 被引量:33
-
1李世宏,贺翔鸽.OPTN基因与原发性开角型青光眼[J].国际眼科杂志,2008,8(1):102-105. 被引量:6
-
2王俊妨,林婴,杨正林,尹一兵.青光眼分子遗传学的研究进展[J].国际遗传学杂志,2006,29(6):458-462.
-
3戴毅.由OPTN突变引起的成人型原发性开角型青光眼[J].国外医学(眼科学分册),2002,26(4):253-254.
-
4金晓红.原发性开角型青光眼的遗传学进展[J].中国实用眼科杂志,2002,20(1):7-11. 被引量:7
-
5陈建华,李杨,徐亮.开角型青光眼的分子遗传学研究[J].国外医学(眼科学分册),2003,27(4):204-209.
-
6黄昌泉,汪耀,吴仁毅.自噬与青光眼关系的研究进展[J].国际眼科纵览,2014,0(6):366-369. 被引量:1
-
7王成虎,田强.原发性开角型青光眼相关致病基因研究[J].国际眼科纵览,2007,31(3):186-189. 被引量:1
-
8贺江梅,郑梅玲.Leber遗传性视神经病变的遗传学进展[J].中国优生与遗传杂志,2006,14(8):3-4.
-
9梁思颖,黄丽娜,应方微,何靖,温腾亮.中国原发性开角型青光眼患者视神经病变诱导反应蛋白基因多态性的研究[J].中华实验眼科杂志,2013,31(9):863-866. 被引量:4
-
10贺翔鸽,刘莛,李世宏,李战梅.重庆原发性开角型青光眼家系相关致病基因研究[J].眼科,2009,18(1):22-23. 被引量:1