福建省486例耳聋患者致聋原因及线粒体DNA突变分析  

Analysis of the mitochondrial mutation and the Etiologies of 486 Deaf Patients in Fujian Province

作　　者：程祖建[1] 杨滨[1] 江凌[1] 刘奇才[1] 陈静[1] 陈勇[1] 欧启水[1] 

机构地区：[1]福建医科大学附属第一医院检验科福建医科大学基因诊断研究室,福州350005

出　　处：《听力学及言语疾病杂志》2008年第4期271-274,共4页Journal of Audiology and Speech Pathology

基　　金：福建医科大学研究发展基金资助项目(FJGXY04005)

摘　　要：目的分析486例耳聋患者的致聋原因,探讨线粒体DNA(mitochondrial DNA,mtDNA)突变与耳聋的关系。方法对486例耳聋患者进行病因学调查,并同时进行线粒体DNA1 555、3 243、7 445突变位点的检测。结果486例中发现家族遗传性聋126例(25.9%),药物性聋221例(45.5%),近亲结婚致聋39例(8.02%),高热或耳部疾病致聋76例(15.6%),不明原因致聋24例(4.9%);在486例耳聋患者中,mtDNA A1 555G突变阳性44例,突变阳性率为9.05%,其中32例为同质性突变,12例为异质性突变;检出1例mtDNA G7 444A突变;所有样本均未检出mtDNA A3 243G、mtDNA A7 445G突变。结论遗传因素和使用耳毒性药物是导致耳聋的重要原因,mtDNA A1 555G突变是常见的突变形式,是氨基糖苷抗生素致聋的重要原因。Objective To report a survey of the causes of 486 deaf patients in Fujian Province and to explore the relationship between hearing loss and mitochondrial mutation. Methods Questionnaires were sent to 486 deaf patients to identify the possible etiologies of hearing impairment and the mutations of mitochondrial DNA were stud ied. Results The deafness was mainly caused by the family genetics and the excessive use of ototoxic drugs. Among the 486 patients, the mutation rate of the mtDNA A1 555G was 9.05%（44/486）, 32 of 44 cases were homozygosis, 12 of 44 cases were heterozygosis. The mutations of mtDNA A3243G and mtDNA A7 445G were not detected. One case was found to carrymtDNA G7 444A mutation. Conclusion Ototoxicand hereditary factors were the main culprits for the deafness in the cases studied. The mutation rate of the mtDNA A1 555G was high among Chinese patients and the mutation types included homozygosis and heterozygosis. These cases demonstrated hypersensitivity to AmAn ototoxicity.

关 键 词：耳聋 流行病学 线粒体DNA 

分 类 号：R764.5[医药卫生—耳鼻咽喉科]