一噪声相关常染色体显性遗传耳聋家系遗传性分析

发布时间：2018-05-09 18:26

本文选题：常染色体显性遗传 + 遗传性耳聋　；参考：《中华耳科学杂志》2016年04期

【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。
[Abstract]:Objective to analyze the audiological and genetic characteristics of an autosomal dominant hereditary deafness family associated with noise exposure and to establish a strategy for the identification of deafness genes. Methods the autosomal dominant hereditary deafness pedigree was investigated by questionnaire, audiological examination and whole body examination. The genetic map of the family was drawn, and the characteristics of audiology and genetics were analyzed. Candidate genes were identified by Sanger sequencing. Results of the 5 generations of the family, 13 had audiological examination and 6 had hearing loss. Among them, 3 had a history of noise exposure. Hearing mechanics showed bilateral delayed sensorineural hearing loss, which was mainly caused by high frequency hearing loss, and then increased gradually, and the age of hearing loss began to be between 16 and 37 years old. Three years after the onset of the disease, the symptoms were significantly aggravated. Sanger sequencing technique was used to identify the candidate gene and no deafness mutation site was found. Conclusion this family member is a type of delayed sensual sensorineural deafness with high frequency hearing loss, which is consistent with autosomal dominant non-syndromic deafness and is suspected to have noise-susceptible factors. The next step is to identify the family's deafness gene by using a new generation of sequencing techniques through phenotypic analysis of the family.
【作者单位】：中南大学湘雅医院耳鼻咽喉头颈外科学;新疆医科大学第一附属医院耳鼻咽喉头颈外科学;
【基金】：国家自然科学基金项目(Grant No.81170923,81470705,81300833) 国家青年科学基金81500803~~
【分类号】：R764.43;R440

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