| 颗粒状角膜营养不良一家系的BIGH3基因突变研究 |
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| 引用本文： | 侯志强,王薇,张晶,许永根,周臻,黄琛. 颗粒状角膜营养不良一家系的BIGH3基因突变研究[J]. 中国医科大学学报, 2011, 40(3): 246-249 |
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| 作者姓名： | 侯志强 王薇 张晶 许永根 周臻 黄琛 |
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| 作者单位： | 1. 北京大学第三医院,眼科,北京100191
2. 北京大学第三医院,眼科,北京100191;北京大学第三医院,中心实验室,北京100191 |
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| 基金项目： | 北京市科学技术委员会资助项目(D206009000091) |
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| 摘 要： | 【摘要】 目的 对一颗粒状角膜营养不良家系进行分子遗传学分析, 探讨BIGH3基因突变的类型。方法 收集一颗粒状角膜营养不良家系中2名患者和1名家系中正常成员的外周血5ml，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, 进行聚合酶链反应 (PCR)扩增, 并对PCR产物直接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, 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。
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| 关 键 词： | 角膜营养不良 BIGH3基因 突变 杂合子 Corneal dystrophies BIGH3 gene mutation heterozygote |
Analysis of BIGH3 Gene Mutation in a Chinese Family with Granular Corneal Dystrophy |
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| HOU Zhi-qiang , WANG Wei , ZHANG Jing , XU Yong-gen , ZHOU Zhen , HUANG Chen. Analysis of BIGH3 Gene Mutation in a Chinese Family with Granular Corneal Dystrophy[J]. Journal of China Medical University, 2011, 40(3): 246-249 |
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| Authors: | HOU Zhi-qiang WANG Wei ZHANG Jing XU Yong-gen ZHOU Zhen HUANG Chen |
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| Affiliation: | HOU Zhi-qiang1,WANG Wei1,ZHANG Jing1,XU Yong-gen1,ZHOU Zhen1,HUANG Chen1,2(1.Department of Ophthalmology,2.Central Laboratory,Peking University Third Hospital,Beijing 100191,China) |
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| Abstract: | 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),r... |
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| Keywords: | corneal dystrophies BIGH3 gene mutation heterozygote |
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