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Analysis of BIGH3 Gene Mutation in a Chinese Family with Granular Corneal Dystrophy

侯志强
王薇
张晶
许永根
周臻
黄琛

Publication date

January 2011

Publisher

中国医科大学学报

Journal

issn:0258-4646

Abstract

目的对1个颗粒状角膜营养不良家系进行分子遗传学分析,探讨其BIGH3基因突变的类型.方法收集1个颗粒状角膜营养不良家系中2名患者和1名正常成员的外周血5 ml,提取白细胞DNA,利用合成的BIGH3基因第4、11和12外显子的特异性引物,进行PCR扩增,并对PCR产物直接行DNA测序分析.结果该家系患者成员的BIGH3基因第4外显子存在CGC&gt;CAC(R124H)突变杂合子.而家系表现正常成员无此基因位点突变.结论该颗粒状角膜营养不良家系存在BIGH3基因突变,为R124H杂合突变类型,确诊为Avellino角膜营养不良.北京市科学技术委员会资助项目中文核心期刊要目总览(PKU)中国科技核心期刊(ISTIC)中国科学引文数据库(CSCD)03246-2494

Extracted data

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