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听觉系统中的遗传学、基因组学与基因发现

Genetics, genomics and gene discovery in the auditory system.

作者信息

Morton Cynthia C

机构信息

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

出版信息

Hum Mol Genet. 2002 May 15;11(10):1229-40. doi: 10.1093/hmg/11.10.1229.

Abstract

The sounds of silence have forever been broken as genetics and genomics approaches in human and model organisms have provided a powerful and rapid entry into gene discovery in the auditory system. An understanding of the complexities and beauty of the biological process of hearing itself is unfolding as genes underlying hereditary hearing impairment are identified. Genes involved in modifying hearing are also being found, and will be critical to a full comprehension of genotype-phenotype relationships. Investigations in the auditory system will provide important insight into how the nervous system decodes molecular information. Deafness represents a common sensory disorder that can interfere dramatically in the acquisition of speech and language in children, and in the quality of life for a growing aged population. As newborn screening for hearing impairment is being implemented in many birth hospitals, the prospects for precise clinical diagnosis, appropriate genetic counseling and proper medical management for auditory disorders has never been at a more exciting crossroad.

摘要

随着人类和模式生物的遗传学与基因组学方法为听觉系统中的基因发现提供了强大而快速的切入点,寂静之声已被彻底打破。随着遗传性听力障碍相关基因的确定,对听力本身这一生物过程的复杂性和美妙之处的理解正在逐步展现。参与调节听力的基因也不断被发现,这对于全面理解基因型与表型的关系至关重要。对听觉系统的研究将为神经系统如何解码分子信息提供重要见解。耳聋是一种常见的感觉障碍,会严重干扰儿童的言语和语言习得,以及老年人口不断增长的生活质量。随着许多产科医院开始实施新生儿听力障碍筛查,听觉障碍的精确临床诊断、恰当的遗传咨询和合理的医疗管理正处于前所未有的令人兴奋的十字路口。

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