军事噪声性听力损失群体中mtDNA和GJB2基因变异研究  

Mitochondrial DNA and GJB2 Genovariation in Noise-Induced Hearing Loss in the Army

作　　者：张艳[1] 戴朴[2] 薛希均[1] 韩东一[2] 王国建[2] 袁永一[2] 韩冰[2] 陈良飞[3] 钟玲[1] 任黎[1] 孙林辉[1] 陈克久 杨晓东 张培华 张波 杨有声 王顺跃 张金淑 

机构地区：[1]解放军昆明总医院,昆明医学院教学医院耳鼻咽喉头颈外科 [2]解放军总医院耳鼻咽喉头颈外科 [3]解放军77200部队

出　　处：《听力学及言语疾病杂志》2009年第2期137-139,198,共4页Journal of Audiology and Speech Pathology

基　　金：全军医药卫生科研基金课题科技攻关项目(06G110);全军医药卫生科研基金课题面上项目资助(06MA142)

摘　　要：目的探讨线粒体基因及GJB2基因突变与军事噪声性听力损失(noise induced hearing loss,NI HL)易感性的关系,为易感个体的基因筛查及相关分子流行病学研究提供科学依据。方法调查了北京某部349名接触军事噪声的官兵,收集军事噪声性听力损失易感者和耐受者外周血标本182份,提取DNA,PCR扩增线粒体DNA(mitochondrial DNA,mtDNA)目的片段及GJB2编码区,产物直接基因测序。结果基因序列分析共发现98种mtDNA和12种GJB2变异基因型,其中41种存在于12SrRNA;在易感者中发现4例mtDNA突变均为T1095C合并G7642A,在耐受者中未发现该突变;另有3例耐受者均为961delT+insC(其中一人合并235delC杂合),而易感者中未发现该突变。结论证实12SrRNA确为线粒体高突变区。T1095C合并G7642A突变在这些无相同遗传背景但受相同环境因素影响的人群中集中出现,强烈提示该突变可能为导致NI HL的致病性突变。3例有961delT+in-sC的耐受者均长期暴露于噪声环境,这与该突变应为条件致病性突变的推测相符,但与NI HL无明显相关性。Objective To explore the relationship between mitochondrial DNA gene,GJB2 gene mutations and the susceptibility to noise--induced hearing loss in the army, and to provide scientific evidence for gene screening of susceptible individuals and relevant molecular epidemiology. Methods 182 blood samples were collected from 349 soldiers, consisting of susceptible and tolerance groups exposed to military noise in Beijing. Genomic DNA was isolated ,and the targeted fragments of mitochondrial DNA and coding region of GJB2 gene were amplified by polymerase chain reaction （PCR）. The PCR products were analyzed by direct sequencing. Results The results revealed that there were 98 mtDNA variants （41 reside in 12SrRNA） and 12 GJB2 gene variants; among them, mtDNA T1095C and G7642A coexisted in 4 susceptible individuals, but these mutations were not found in the tolerance group. In addition, 3 tolerant individuals carried 961delT-FinsC while no one was found in the susceptible group. Conclusion The 12SrRNA is an area evidenced by high variant and mutation rate. The coexistence of mtDNA T1095C and G7642A in the susceptible group exposed to the similar noise suggests that these mutations are pathogenic mutations associated with NIHL. Three tolerant individuals with the history of long-term noise exposure carry 961delT＋insC, suggesting that 961delT＋insC might be a conditional pathogenic mutation, but not correlate with NIHL.

关 键 词：噪声性聋 线粒体DNA GJB2 基因突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]