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

作　　者：郑洁[1] 薛敏[1] 张棣[1] 周青[2] 汪渊[2] 李寿玲[1] 

机构地区：[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

出　　处：《安徽医科大学学报》2014年第7期999-1002,共4页Acta Universitatis Medicinalis Anhui

摘　　要：目的对一颗粒状角膜营养不良(GCD)家系进行BIGH3基因突变筛查,以确定其致病基因。方法收集一常染色体显性遗传的GCD家系,提取该家系患者及正常者的DNA,通过聚合酶链式反应(PCR)扩增BIGH3基因的目的片段,纯化后直接测序,用DNAStar软件分析测序结果,检测其BIGH3基因突变的类型。结果该家系患者均检测出第4外显子的R124H突变(CGC>CAC),而家系中的正常者及50例正常对照者的BIGH3基因中均未发现该突变。家系成员都检测出第11、12外显子的同义单核苷酸多态性(SNP)。通过基因检测,确定该家系角膜营养不良的分型,即为GCDⅡ型,又称Avellino角膜营养不良(ACD)。结论 BIGH3基因突变导致了该家系角膜营养不良患者的角膜病变,突变类型为R124H杂合突变。Objective To identify the mutation of BIGH3 gene in a Chinese family with granular corneal dystrophies（ 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 sequencing 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 

分 类 号：R772.2[医药卫生—眼科]