中文摘要：

目的分析一个与噪声接触相关的常染色体显性遗传性耳聋家系的听力学及遗传学特征，制定致聋基因鉴定策略。方法对该常染色体显性遗传性耳聋家系进行问卷调查，听力学检测及全身体查，绘制该耳聋家系的遗传图谱，分析其听力学及遗传学特点。应用Sanger 测序技术进行候选基因鉴定。结果该家系共5代，进行听力学检测者为13人，听力下降者6人，其中3人有明显的噪声接触史。听力学表现为双侧迟发性感音神经性耳聋，先以高频听力损失为主，随后逐渐加重累及全频听力下降，听力开始下降年龄在16-37岁之间。起病后3年症状明显加重。应用Sanger 测序技术进行候选基因鉴定，未发现致聋突变位点。结论这个家系成员为高频听力下降为主的迟发性感音神经性耳聋，符合常染色体显性遗传非综合征型耳聋特点，且怀疑有噪声易感因素。计划下一步通过对家系的表型分析运用新一代测序技术希望鉴定出该家系的致聋基因。

英文摘要：

Objective To report audiologic and genetic features of a Chinese family with nonsydromic autosomaldominant hearing loss associated with noise exposure and establish the identification strategy of induced deafness. MethodA pedigree with autosomal-dominant inherited postlingual progressive bilateral sensorineural hearing loss was investigated.Medical and detailed audiological examination were completed in all study participants. Candidate genes were testedby Sanger sequencing. Results Thirteen members of the family participated in this study, and 6 showed hearing impairment,which mainly affected high frequencies initially, with lower frequencies becoming involved with increasingage, gradually progressing to all frequency hearing loss. The age of onset varied from 16 to 37 years. Candidate geneswere preliminary excluded by Sanger sequencing. Conclusion Pedigree analysis suggests an autosomal dominant inheritancepattern in this family .