5个大前庭水管综合征家系SLC26A4基因的检测分析  

Analysis of SLC26A4 gene mutations in 5 families associated with enlarge vestibular aqueduct syndrome

作　　者：朱发梅[1] 郑家法[1] 谢鼎华[2] 胡鹏[2] 

机构地区：[1]南华大学附属南华医院耳鼻咽喉科,湖南衡阳421002 [2]中南大学湘雅二医院耳鼻咽喉科,湖南长沙410001

出　　处：《山东大学学报（医学版）》2014年第10期90-95,共6页Journal of Shandong University:Health Sciences

摘　　要：目的分析5个大前庭水管综合征家系SLC26A4基因的分子流行病学特点。方法收集5个大前庭水管综合征家系的病史资料和家系成员的外周血,提取基因组DNA,应用耳聋基因芯片联合DNA测序法对5个家系的6例耳聋患者及11例听力正常者进行SLC26A4基因突变检测。结果 5个家系中共发现SLC26A4基因IVS7-2A>G、2168A>G、1229C>T、IVS15+5G>A、679G>C 5种不同的已知致病突变,6例患者均为复合杂合突变,11例听力正常者均为单个等位基因突变的杂合携带者。在所有的突变中,IVS7-2A>G突变的发生率最高。结论 5个家系的6例耳聋患者都是SLC26A4基因复合杂合突变导致前庭水管扩大,符合常染色体隐性遗传机制。Objective To analyze the molecular epidemiology of SLC26A4 mutations in 5 families associated with en-largevestibularaqueductsyndrome（EVAS）.Methods 5familiesassociatedwithEVASwereincludedinthisstudy. Family history and clinical information were collected from all families.Genomic DNA samples were extracted from pe-ripheral blood of all the members in those families and examined with the DNA microarray and sequencing in SLC26A4 gene.Results We found 5 types of mutation totally,including IVS7-2A〉G,2168A〉G,1229C〉T,IVS15 ＋5G〉A and 679G〉C.Compound heterozygous mutations in SLC26A4 gene were found in 6 patients,and 11 cases of normal hearing were also heterozygous carriers of mutation.IVS7-2A〉G was the most common mutation.Conclusion Hear-ing loss in the 6 patients of the 5 families is all caused by different biallelic mutations of SLC26A4,in accordance with autosomal recessive genetic mechanisms.

关 键 词：前庭水管 基因突变 遗传性耳聋 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]