颗粒状角膜营养不良一家系BIGH3基因突变的研究  

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

作　　者：侯志强[1] 王薇[1] 张晶[1] 许永根[1] 周臻[1] 黄琛[1,2] 

机构地区：[1]北京大学第三医院眼科,北京100191 [2]北京大学第三医院中心实验室,北京100191

出　　处：《中国医科大学学报》2011年第3期246-249,共4页Journal of China Medical University

基　　金：北京市科学技术委员会资助项目(D206009000091)

摘　　要：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>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。Objective To detect the mutation of BIGH3 gene in a Chinese family with granular corneal dystrophy and identify the type of mutation.Methods Peripheral blood was sampled from 2 patients and 1 unaffected family member from a family with corneal dystrophy.DNA in the leukocytes was extracted.Exons 4,11,and 12 of BIGH3 gene were amplified by polymerase chain reaction,and the products were sequenced directly.Results Direct sequencing of all affected members revealed a G to A transition at codon 124（CGC to CAC）,resulting in R124H mutation of BIGH3 gene.Conclusion R124H mutation of BIGH3 gene is detected in a Chinese family with granular corneal dystrophy,and the definite diagnosis is Avellino corneal dystrophy.

关 键 词：角膜营养不良 BIGH3基因 突变 杂合子 

分 类 号：R772.2[医药卫生—眼科]