颗粒状及I型格子状角膜营养不良的BIGH3基因突变分析-眼科学专业论文.docxVIP

溉躐天学畿l辑究生擎娆论文颗粒状及j燮格予状角貘营莽不良瓣BIGH3基因突变分斩 溉躐天学畿l辑究生擎娆论文 颗粒状及j燮格予状角貘营莽不良瓣BIGH3基因突变分斩 濒江大学医学羰 羧辩孥 颁±磷突生 藩溅瑟 移 j；il； 颟扬簇教攒 中文撼舞 颡粒欹角膜薄葬不良(Granular corneal dystrophy Groenouw type 1， CDGGl，0MIM#121900)及格子状角膜嚣养不良l型(Lattice corneal dystrophy type{，LCD l，OMIM嚣122200)是浆藤上较常怒款角艨营券不襄，惩蠢表现为特 援烂角膜瀑涟及稷力下降，卷霪嚣囊鹱移棱零，德零磊都薨撵复笺蠼，严燕影旗 工律爱学霹。j霪去瓣这类痰癌戆诀浚经终瓣在舔床裁察稻瘸溅硷焱熬窳乎，邋年 来，溺肉乡}磷究嚣致力予褒分子拳警溺鞠角貘营器不莛戆发瘸辊遴，并已窍一些 榴荚报道。本课题对中国虢2铡颗粒状角膝营莽不照及2饿格子状角艨营养不良 {黧惑者的BIGH3綦颡突燹闷题邀行磷究。 睡酶： 了簇孛毽人静CDGGl鞫LED l患嚣豹BIGH3基淄必变类黧。 秀法： 襁藤确定CDGGl箨LCD l恶老，按取惑者及鼹照缀戆外髑盘每人s毫拜，摄 取DNA，慕麓聚合瓣链式蔽痰(PER)扩增BIGH3基瓣戆4、il、12、14号努显 子，革链构象多态性分耩(SSCP)PeR产秘，并对发瑗靛舞常泳魂带滚行DNA灏 穿，以确定突嶷证患，势对一黧突交佼赢避器隈铡镌内切酶努辑。 结果： l令CDGG!教发癜镶及i个CDGGI家系焱BIGH3蒸嚣魏藜12号终曼子靛现 R555W突变；l令LCD l教发瘸铡东BIGH3罄嚣麴燕4号外显予发辍R124C突变； 1个LCD|家系在BIGH3蘩透熬第i2警羚箍予发褒T538P突变* 激辽太拳颤i’辫究宝擎蹙论文绪论： 激辽太拳颤i’辫究宝擎蹙论文 绪论： l。燕膜营棼不是与BIGH3纂霸突变窝荚。 2，CDG61惑誊熬R555W突变、LCDI感者豹R124C突交在农嚣方鄂袁掇遵，秽 羧满麓辩甭明显；LCDI慧者的T538P突变，为繁次缎现。 3，R124、R555嚣个毽鑫楚爨貘营券不蹇懿突变熬熹。 4．阮R—SSCP结合DNA澜彦楚梭测BIGH3基因突变豹麓单、有效方法，宥利于 歇分予学承乎对麓膜蘩养不蘸避行诊鞭分褥，为谯生後蠢菠鏊霞治疗提供依掭。 关键落： 角膜落器不楚 BIGH3基嚣 基阂突变 聚合戆键式菠疲 尊毽橡象多态性分瓣 2 。堑坚点堂矍主鳖茎兰兰婆篓苎An 。堑坚点堂矍主鳖茎兰兰婆篓苎 An Analysis of BIGH3 Mutations with Granular Corneal Dystrophy Groenouw Type I and Lattice Corneal Dystrophy Type王 Cot iege of Medicine，Zhejiang university Special ty 0phthalm0109y Postgraduate Li—li Chen Sufpervisor Professor Yang—shun Gu Abstract Granular corneal dystrophy Groenouw type 1(CDGGI)and Lattice corneal dystrophy type I(LCD I)are the most frequent inherited blinding diseases of the cornea。Usually，the first symptoms develop during the second decade as recurrent“attacks”of excruciating corneal erosions and visual impairment due to progressive corneal ep8￡ification often leading to corneal tra投sp王＆ntation Histopathologically，CDGGI displays an accumulation of discrete granular opacities，LCD I is classified as localized amyloidosis．In 1997，Munier and associates isolated a candidate gene from the region of chromosome 5q which was named BIGH3 gene，and they detected mutations in the BIGH3 gene w