常染色体显性遗传耳聋家系听力学及遗传学特征分析

发布时间：2018-03-08 04:12

本文选题：显性遗传　切入点：听力损失　出处：《中华耳科学杂志》2014年02期 　论文类型：期刊论文

【摘要】：目的分析一个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,绘制该耳聋家系的遗传图谱,分析其听力学及遗传学特征。结果该家系共5代,进行听力学检测者为33人,听力下降者19人.听力学表现为双侧对称的感音神经性耳聋,以高频听力损失为主,听力损失呈进行性加重,但该家系内2个不同分支听力下降时间明显不同,分别为10-30岁和60岁。该家系A组符合常染色体显性遗传感音神经性耳聋特点,B组符合显性遗传老年性聋特点。结论这个家系的两组成员分别表现出2种不同的听力学表型。A组成员为高频听力下降为主的感音神经性耳聋,符合常染色体显性遗传非综合征型耳聋特点;B组成员为高频听力下降为主的老年性聋,符合显性遗传规律,这2组成员可能分别由不同的致病基因导致,需要根据各自的听力学表型及遗传学特征分别制定耳聋基因筛查策略。
[Abstract]:Objective to analyze the audiological and genetic characteristics of an autosomal dominant hereditary deafness family, and to establish a strategy for the identification of the deafness gene. Methods the autosomal dominant hereditary deafness pedigree was investigated by questionnaire and audiological examination. The genetic map of hearing loss was drawn, and its audiological and genetic characteristics were analyzed. Results among the 5 generations of the family, 33 were examined by audiology, 19 were hearing loss, and the audiology showed bilateral symmetrical sensorineural hearing loss. The high frequency hearing loss was the main factor, and the hearing loss was aggravated progressively, but the hearing loss time of two different branches in this family was obviously different. It is 10-30 years old and 60 years old respectively. This family group A accords with autosomal dominant hereditary sensorineural hearing loss and group B accords with dominant hereditary presbycusis. Conclusion the two groups of members of this family show two different hearing types respectively. Group A was sensorineural deafness with high frequency hearing loss. According to the autosomal dominant non-syndromic deafness, group B is presbycusis with high frequency hearing loss, which may be caused by different pathogenetic genes. Genetic screening strategies for deafness need to be developed according to their audiological phenotypes and genetic characteristics.
【作者单位】：解放军总医院耳鼻咽喉头颈外科解放军耳鼻咽喉研究所;广东省人民医院耳鼻咽喉头颈外科;广东省医学科学院;
【基金】：国家重点基础研究发展计划(973计划)项目(2013CB945402)资助广东省自然科学基金《Dkk1/SIS3/IGF-1诱导羊水干细胞分化为内耳毛细胞研究》(S2012010009143)
【分类号】：R764.43

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