基因组学时代的耳聋
Deafness in the genomics era.
机构信息
Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA.
出版信息
Hear Res. 2011 Dec;282(1-2):1-9. doi: 10.1016/j.heares.2011.10.001. Epub 2011 Oct 8.
Abstract
Our understanding of hereditary hearing loss has greatly improved since the discovery of the first human deafness gene. These discoveries have only accelerated due to the great strides in DNA sequencing technology since the completion of the human genome project. Here, we review the immense impact that these developments have had in both deafness research and clinical arenas. We review commonly used genomic technologies as well as the application of these technologies to the genetic diagnosis of hereditary hearing loss and to the discovery of novel deafness genes.
摘要
自从发现第一个人类耳聋基因以来，我们对遗传性听力损失的理解有了很大的提高。自从人类基因组计划完成以来，由于 DNA 测序技术的巨大进步，这些发现更是加速了。在这里，我们回顾了这些发展在耳聋研究和临床领域产生的巨大影响。我们回顾了常用的基因组技术，以及这些技术在遗传性听力损失的基因诊断和新的耳聋基因发现中的应用。
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