Huijun Yuan, Yu Lu
Institute of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
Yi Chuan. 2014 Nov;36(11):1112-20. doi: 10.3724/SP.J.1005.2014.1112.
More than 50% cases with hearing loss are caused by genetic defects. With the development of genomics technology, molecular genetics of hearing loss has become a cutting-edge field under investigation in otology. The next generation sequencing has provided a new model originated from sequencing data to genetic disease study, and has made a revolutionary change in the strategy of gene identification for genetic diseases. Due to the application of next generation sequencing technology, gene identification of hearing loss has been accelerated in recent years, and moreover, the new technology and strategy were explored to clinical application. In this review, we briefly introduce the current situation of hereditary hearing loss research, and the application and perspective of next generation sequencing in this field.
超过50%的听力损失病例是由基因缺陷引起的。随着基因组学技术的发展，听力损失的分子遗传学已成为耳科学中一个正在研究的前沿领域。新一代测序为遗传疾病研究提供了一种源于测序数据的新模式，并在遗传疾病的基因鉴定策略上带来了革命性的变化。由于新一代测序技术的应用，近年来听力损失的基因鉴定得到了加速，而且还探索了新技术和新策略在临床中的应用。在这篇综述中，我们简要介绍遗传性听力损失的研究现状，以及新一代测序在该领域的应用和前景。
