一个常染色体显性遗传非综合征型聋家系分析

发布时间：2018-05-20 23:10

本文选题：常染色体显性遗传 + 遗传性聋　；参考：《中华耳科学杂志》2014年01期

【摘要】：目的分析一个连续5代遗传的常染色体显性遗传性聋家系的临床听力学及遗传学特征。方法对一个常染色体显性遗传高频感音神经性聋家系成员进行全面体检及临床听力学检查,整理、分析家系资料,确定遗传规律,绘制遗传图谱并进行听力学特征分析。应用Sanger测序技术对该家系成员进行候选基因鉴定。结果该耳聋家系遗传方式为常染色体显性遗传,发病年龄各代间较稳定,在30-45岁之间。听力学表型为代代相传、迟发性、渐进性的中度至重度听力损失,患者早期以高频听力下降为主,随着年龄增长逐渐累及全频听力。应用Sanger测序技术进行候选基因鉴定,未发现致聋突变位点。结论该家系遗传学特征符合常染色体显性遗传方式,听力学具有早期高频听力下降并逐渐累及全频的特征,在候选基因中进行测序未发现致聋突变位点。因此希望通过对家系进一步的表型分析或者运用新一代测序技术,可以找到该家系的致聋基因。
[Abstract]:Objective to analyze the clinical and genetic characteristics of autosomal dominant hearing loss in a family of 5 consecutive generations. Methods A family member with autosomal dominant high-frequency sensorineural hearing loss was examined by physical examination and clinical audiology examination. The candidate genes were identified by Sanger sequencing. Results the genetic pattern of the deafness family was autosomal dominant, and the age of onset of deafness was stable between 30 and 45 years old. The phenotype of audiology was transmission from generation to generation, late onset and progressive moderate to severe hearing loss. The main early stage of hearing loss in patients was high frequency hearing loss, and with the age increasing, full frequency hearing was gradually involved. Sanger sequencing technique was used to identify the candidate gene and no deafness mutation site was found. Conclusion the genetic characteristics of this pedigree are in accordance with autosomal dominant inheritance pattern. Audiology has the characteristics of early high frequency hearing loss and gradual involvement of full frequency. No deafness mutation site was found in the sequencing of candidate genes. It is hoped that the deafness gene can be found by further phenotypic analysis or new generation sequencing.
【作者单位】：解放军总医院耳鼻咽喉头颈外科耳鼻喉科研究所;南开大学医学院;
【分类号】：R764.43

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