安徽医科大学学报Issue(7)：999-1002,4.
一颗粒状角膜营养不良家系BIGH3基因突变的研究
Mutation screening of BIGH3 gene in a Chinese family with granular corneal dystrophies
郑洁 1薛敏 1张棣 1周青 2汪渊 2李寿玲1
作者信息
- 1. 安徽医科大学第一附属医院眼科，合肥 230022
- 2. 安徽医科大学教育部“重要遗传病基因资源利用”重点实验室 省部共建，合肥 230032
- 折叠
摘要
Abstract
Objective To identify the mutation of BIGH3 gene in a Chinese family with granular corneal dystro-phies( GCD) . Methods Genomic DNA was extracted from the peripheral blood of the GCD patients,the relatives of the GCD family and the normal controls. The 3 exons(4,11,12)of the BIGH3 gene were amplified by PCR and sequenced bidirectionally. The sequencing results were analyzed by DNAStar software. Results Directly sequen-cing of 4 affected members revealed a G to A transition at codon 124(CGC>CAC),producing R124H mutation of BIGH3 gene. Two synonymous single nucleotide polymorphism( SNPs) of BIGH3 gene were found in the family. The classification based on genetic information of this family was GCD type II. Conclusion BIGH3 gene mutation is the disease-causing gene of this GCD family, mutation type is R124H heterozygous mutations.关键词
角膜营养不良/基因突变/BIGH3基因Key words
corneal dystrophy/mutation/BIGH3 gene分类
医药卫生引用本文复制引用
郑洁,薛敏,张棣,周青,汪渊,李寿玲..一颗粒状角膜营养不良家系BIGH3基因突变的研究[J].安徽医科大学学报,2014,(7):999-1002,4.
