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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。
Objective To analyze the audiological and genetic characteristics of a pedigree of autosomal dominant deafness associated with noise exposure and to develop a strategy for the identification of deafness genes. Methods The autosomal dominant hereditary deafness pedigree questionnaires, audiological tests and physical examination, draw the genetic map of the deafness family, analysis of its audiology and genetic characteristics. Candidate gene identification was performed using Sanger sequencing technology. Results The pedigree had a total of 5 generations, 13 had hearing tests, 6 had hearing loss, and 3 of them had a significant history of noise exposure. Hearing performance of bilateral delayed sensorineural deafness, first high-frequency hearing loss, and then gradually increased involvement of full-frequency hearing loss, hearing began to decline between the ages of 16-37 years. 3 years after onset of symptoms significantly worse. Sanger sequencing technology was used to identify candidate genes, and no site of deafness mutation was found. Conclusions This family member is a late-onset sensorineural deafness with high-frequency hearing loss, consistent with autosomal dominant non-syndromic deafness and suspected to be susceptible to noise. The next step in the plan is to use next-generation sequencing technology to analyze the phenotypes of families to identify the deafness genes in this pedigree.