非综合征型聋儿的GJB2基因突变55例分析研究  

GJB2 mutation analysis for 55 patients with nonsyndromic hearing impairment

作　　者：陈文霞[1] 许政敏[1] 杨晓林[1] 王琰[1] 芦萍[1] 戴玉琼[1] 

机构地区：[1]上海市复旦大学附属儿科医院眼耳鼻咽喉科上海市儿童听力障碍诊治中心,上海201102

出　　处：《中国儿童保健杂志》2010年第12期948-950,共3页Chinese Journal of Child Health Care

基　　金：上海市科委基金(054119508);十一五支撑课题(2007BAI18B12);十一五支撑课题滚动项目;上海市重大基础研究项目(09DJ1400603);2008年复旦大学附属儿科医院院基金资助

摘　　要：【目的】研究非综合征型耳聋患者的GJB2基因突变形式,分析不同突变类型与临床表型的相关性。【方法】对55例非综合征型耳聋患者（年龄1~10岁）进行遗传性耳聋问卷调查以及全面的主客观听力学评估,并进行GJB2基因检测。【结果】55例非综合征型耳聋患者中,7例有家族史,其中2例存在GJB2基因致病突变,占28.6%（2/7）;55例患者中有12例检测到GJB2基因致病突变,占21.8%（12/55）,其中235delC纯合突变5例,235delC和299-300del AT复合杂合突变3例,79G〉A和341A〉G纯合突变4例。【结论】上海及周边地区非综合征型耳聋患者的GJB2基因突变率较高,235delC和299-300del AT突变导致极重度和重度听力损失为主,79G〉A和341A〉G突变导致中度和轻度听力损失为主。【Objective】 To study mutations in the GJB2 gene in patients with nonsyndromic hearing impairment and to analyze the interaction between mutations and hearing threshold levels.【Method】 55 patients with nonsyndromic hearing impairment（whose age from 1 to 10 years） were interviewed to identify medical histories of hearing loss and per-formed subjective and objective audiological evaluation as well as the detection of the popular deafness gene mutations in GJB2 gene.【Results】 Of the 55 cases,7 patients had the family history background,2 of them were found the mutations in GJB2 gene（28.6%）.In the causative gene screening,12 cases were caused by the mutations of GJB2 gene（21.8%）,5 of them had homozygous 235delC mutation,3 cases had heterozygous 235delC and 299-300delAT mutation and 4 cases had ho-mozygous 79GA and 341AG mutation.【Conclusions】 A high frequence of GJB2 gene mutations is found in the deaf population around the Shanghai area.Most patients with severe hearing impairment are caused by the 235delC and 299-300delAT mutation and mildly and moderate hearing impairment are caused by the 79GA and 341AG mutation.

关 键 词：非综合征型耳聋 GJB2基因 致病突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]