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耳聋遗传学的新时代。

A new age in the genetics of deafness.

作者信息

Rehm H L, Morton C C

机构信息

Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.

出版信息

Genet Med. 1999 Sep-Oct;1(6):295-302; quiz 303. doi: 10.1097/00125817-199909000-00009.

DOI:10.1097/00125817-199909000-00009
PMID:11258632
Abstract

Recent advancements have been made in understanding, diagnosing, and treating deafness. In particular, much has been learned from the discovery of a small fraction of the genes responsible for deafness. This understanding will doubtless increase as additional genes are cloned and their functions elucidated. Trailing close behind these achievements will be more clinical advancements facilitating diagnosis of the etiologies of deafness. Integrating these genetic and clinical perspectives is critical to the development of better treatments and interventional strategies for deafness and its associated difficulties. Although opinions toward these advancements are likely to vary between the hearing population and the Deaf community, a growing understanding of the hearing process and how genetic variations result in deafness is ultimately likely to offer benefits to both groups.

摘要

在耳聋的理解、诊断和治疗方面取得了最新进展。特别是,通过发现一小部分导致耳聋的基因,我们学到了很多东西。随着更多基因被克隆并阐明其功能,这种理解无疑会增加。紧随这些成就之后的将是更多有助于诊断耳聋病因的临床进展。整合这些基因和临床观点对于开发更好的耳聋治疗方法和干预策略及其相关难题至关重要。尽管听力正常人群和聋人社区对这些进展的看法可能存在差异,但对听力过程以及基因变异如何导致耳聋的日益了解最终可能会给这两个群体都带来益处。

相似文献

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A new age in the genetics of deafness.耳聋遗传学的新时代。
Genet Med. 1999 Sep-Oct;1(6):295-302; quiz 303. doi: 10.1097/00125817-199909000-00009.
2
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Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness.广大听力正常者、聋人及听力障碍者群体对耳聋基因检测的态度。
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[Recent advances in childhood deafness].[儿童期耳聋的最新进展]
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Genetics and deafness: what do families want?遗传学与耳聋:家庭的需求是什么?
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Parental attitudes toward genetic testing for pediatric deafness.家长对儿童耳聋基因检测的态度。
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The molecular genetics of inherited deafness--current and future applications.遗传性耳聋的分子遗传学——当前及未来的应用
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引用本文的文献

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Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.新生儿筛查中的基因组测序:NC NEXUS 项目的结果。
Am J Hum Genet. 2020 Oct 1;107(4):596-611. doi: 10.1016/j.ajhg.2020.08.001. Epub 2020 Aug 26.
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Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.对大量意大利听力受损患者队列的基因组研究揭示了几个新等位基因、一例罕见的单亲二体(UPD)病例以及寻找拷贝数变异的重要性。
Front Genet. 2018 Dec 21;9:681. doi: 10.3389/fgene.2018.00681. eCollection 2018.
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Human hereditary hearing impairment: mouse models can help to solve the puzzle.
人类遗传性听力障碍:小鼠模型有助于解开谜团。
Hum Genet. 2008 Nov;124(4):325-48. doi: 10.1007/s00439-008-0556-y. Epub 2008 Sep 11.