非综合征型感音神经性聋易感聋病基因检测分析  

An Evaluation of the Cause of Non-syndromic Sensorineural Hearing Loss with Sensitive Deafness Gene Screening

作　　者：韩明鲲[1] 王秋菊[1] 王大勇[1] 兰兰[1] 赵亚丽[1] 纵亮[1] 赵翠[1] 刘晓雯[2] 鲍晓林[2] 韩东一[1] 

机构地区：[1]解放军总医院耳鼻咽喉-头颈外科,解放军耳鼻咽喉科研究所,北京100853 [2]兰州大学第二医院耳鼻咽喉-头颈外科

出　　处：《听力学及言语疾病杂志》2008年第2期89-91,共3页Journal of Audiology and Speech Pathology

基　　金：国家863项目(2006AA02Z181);国家自然基金面上项目(30672310&30771203);高等学校全国优秀博士学位论文作者专项资金资助项目(200463);军队“十一五”杰出人才项目(06J018);北京市科技计划重大项目(D0906005040291);国家973项目(2007CB507400);北京重大专项课题项目(7070002);国家“十一五”科技支撑计划(2006BAI02B06&2007BAI18B12)联合资助

摘　　要：目的探讨在病因不明的非综合征型感音神经性聋患者中进行GJB2基因和线粒体12SrRNAA1555G突变检测的临床意义。方法对317例非综合征型感音神经性聋患者(排除了明确诊断为前庭导水管扩大和听神经病患者),进行线粒体12SrRNAA1555G突变和GJB2基因突变检测。应用聚合酶链反应扩增线粒体12SrRNA基因和GJB2基因编码区,限制性内切酶Alw26I检测线粒体DNAA1555G突变,对酶切提示A1555G突变的病例和全部GJB2基因扩增产物进行DNA测序。结果18例为线粒体12SrRNAA1555G突变,阳性率为5.68%(18/317)。GJB2基因序列分析发现致病突变纯合和复合杂合者为37例,阳性率为11.67%(37/317),致病突变杂合携带者为17例,检出率为5.36%。317例患者中,17.35%[(18+37)/317]的耳聋患者的致病原因为线粒体12SrRNAA1555G突变和GJB2基因突变导致。结论对病因不明的非综合征型感音神经性聋患者进行GJB2基因和线粒体12SrRNAA1555G突变的检测,有助于病因诊断。Objective To explore the clinical significance of screening the mutations of GJB2 and mtDNA 12S rRNA A1555G in patients with sensorineural hearing loss of unknown cause. Methods Three hundred and seventeen subjects in the study were diagnosed as nonsyndromic sensorineural hearing loss in outpatient clinic excluding those with enlarged vestibular aqueducts or auditory neuropathy. GJB2 and mtDNA 12S rRNA were amplified by PCR. The amplicons of mtDNA 12S rRNA were subjected to restriction enzyme Alw26 Ⅰ. Amplicons of patients whose enzyme reaction highly indicating A1555G mutation and amplicons of GJB2 were purified and directly sequenced. Results Eighteen patients were carriers of mtDNA 12S rRNA A1555G, and positive rate was 5.68%. Thirty--seven patients were carriers of compound heterozygotes or homozygotes pathologic mutations of GJB2 gene, and positive rate was 11. 67%. Seventeen patients were heterozygote carriers of pathologic mutations of GJB2 gene, and positive rate were 5.36%. Hearing loss of 17.35% patients was due to mtDNA 12S rRNA A1555G and GJB2 nutations. Conclusion Gene test to mtDNA 12S rRNA and GJB2 can help determine the cause of 17.35% patients with won--syndromic sensorineural hearing loss of unknown cause. This will improve the diagnosis and treatment subsequently.

关 键 词：感音神经性聋 GJB2 线粒体12S RRNA 

分 类 号：R764.431[医药卫生—耳鼻咽喉科]