耳聋分子病因学检测与临床应用研究  

Molecular etiology analysis and clinical application in deafness patients

作　　者：朱晓燕 魏钦俊[3] 鲁雅洁[3] 王荷溪 陈智斌[1] 曹新[3] 邢光前[1] 

机构地区：[1]南京医科大学第一附属医院耳鼻咽喉科,江苏南京210029 [2]南京市中西医院结合医院耳鼻喉科,江苏南京210014 [3]南京医科大学生物技术系,江苏南京210029 [4]镇江市计划生育指导所,江苏镇江212000

出　　处：《南京医科大学学报（自然科学版）》2013年第2期186-190,共5页Journal of Nanjing Medical University(Natural Sciences)

基　　金：国家自然科学基金(31171217);江苏省科教兴卫工程医学创新团队与领军人才基金(LJ201120)

摘　　要：目的:探讨基因检测在耳聋病因学诊断中的应用前景。方法:收集原因不明的门诊非综合征型耳聋患者200例,采用耳聋基因芯片结合DNA序列测定方法,对中国人中4个常见耳聋相关基因的9个热点突变进行分子检测。9个突变位点分别是:GJB2基因的35delG、176del16bp、235delC和299delAT,GJB3基因的C538T,SLC26A4基因的IVS7-2A>G和A2168G,以及线粒体DNA 12S rRNA基因的A1555G和C1494T。结果:芯片筛查发现携带上述耳聋基因突变者78例(39.0%),其中GJB2突变37例(18.5%),SLC26A4突变28例(14.0%),GJB3突变2例(1.0%),mtDNA 12S rRNA突变11例(5.5%)。59例(29.5%)患者可确诊为遗传性耳聋。结论:约30%的原因不明的门诊非综合征型耳聋患者与遗传因素有关,耳聋基因诊断具有广阔的应用前景。Objective：To explore the significance of genetic testing in the etiological diagnosis in deafness patients. Methods：A total of 200 unrelated individuals with nonsyndromic hearing loss of unknown etiology were recruited for the mutational screening, by using the methods of DNA microarray and direct sequencing. The mutations tested were 35delG, 176del16bp,235delC and 299delAT in the GJB2 gene,C538T in the GJB3 gene,IVS7-2A〉G and A2168G in the SLC26A4 gene,and A1555G and C1494T in the mitochondrial 12S rRNA gene. Results： Deafness-causing mutations were detected in 78 patients（39.0%）, of which 59 subjects （29.5%） were diagnosed as hereditary hearing loss. The carrier frequencies of deafness-causing mutations in these patients were 18.5% in GJB2,14.0% in SLC26A4,1.0% in GJB3 and 5.5% in mitochondrial DNA 12S rRNA,respectively. Conclusion：Genetic factors account for almost 30% hearing-impaired subjects of unknown etiology. The results indicate the necessity of genetic screening for mutations of these causative genes in patients with nonsyndromic hearing loss.

关 键 词：非综合征型耳聋 GJB2基因 SLC26A4基因 基因诊断 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]