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Deafness in the genomics era.基因组学时代的耳聋
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2
A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes.用于耳聋基因综合分析的下一代测序基因检测板（迈阿密耳科基因检测板）
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Screening for deafness-associated mitochondrial 12S rRNA mutations by using a multiplex allele-specific PCR method.采用多重等位基因特异性 PCR 方法筛查耳聋相关的线粒体 12S rRNA 突变。
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Noninvasive Test for Mitochondrial DNA A1555G Mutation Associated with Deafness.与耳聋相关的线粒体DNA A1555G突变的无创检测
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Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.以色列犹太人群遗传性听力损失相关基因谱，包括新型人类耳聋基因 ATOH1。
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Autosomal Recessive Non-Syndromic Deafness: Is AAV Gene Therapy a Real Chance?常染色体隐性非综合征性耳聋：腺相关病毒基因治疗是一个切实可行的机会吗？
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gene therapy and conditional deletion reveal developmental stage-dependent effects on inner ear structure and function.基因治疗和条件性缺失揭示了对内耳结构和功能的发育阶段依赖性影响。
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本文引用的文献

1
Field guide to next-generation DNA sequencers.下一代 DNA 测序仪使用指南。
Mol Ecol Resour. 2011 Sep;11(5):759-69. doi: 10.1111/j.1755-0998.2011.03024.x. Epub 2011 May 19.
2
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.下一代测序技术确定了 SMPX 基因突变，该基因编码 X 连锁的小肌肉蛋白，是进行性听力损伤的原因。
Am J Hum Genet. 2011 May 13;88(5):628-34. doi: 10.1016/j.ajhg.2011.04.012. Epub 2011 May 5.
3
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.SMPX 中的无义突变导致对物理力有反应的蛋白质异常，从而导致 X 染色体遗传性听力损失。
Am J Hum Genet. 2011 May 13;88(5):621-7. doi: 10.1016/j.ajhg.2011.04.007. Epub 2011 May 5.
4
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.DNMT1 基因突变导致遗传性感觉运动神经病伴痴呆和听力损失。
Nat Genet. 2011 Jun;43(6):595-600. doi: 10.1038/ng.830. Epub 2011 May 1.
5
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.线粒体组氨酰 tRNA 合成酶 HARS2 突变导致 Perrault 综合征的卵巢发育不良和感觉神经性耳聋。
Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr 4.
6
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).癌胚抗原相关细胞黏附分子 16 与α-张力蛋白相互作用，并且在常染色体显性遗传性听力损失（DFNA4）中发生突变。
Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4218-23. doi: 10.1073/pnas.1005842108. Epub 2011 Feb 22.
7
Carrier testing for severe childhood recessive diseases by next-generation sequencing.下一代测序技术在严重儿童隐性疾病中的携带者检测
Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756.
8
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.功能缺失突变的 MSRB3 编码蛋氨酸亚砜还原酶与人类耳聋 DFNB74 相关。
Am J Hum Genet. 2011 Jan 7;88(1):19-29. doi: 10.1016/j.ajhg.2010.11.010. Epub 2010 Dec 23.
9
Combining target enrichment with barcode multiplexing for high throughput SNP discovery.结合靶向富集和条码多重化进行高通量 SNP 发现。
BMC Genomics. 2010 Nov 18;11:641. doi: 10.1186/1471-2164-11-641.
10
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.使用大规模平行测序进行遗传性听力损失的综合基因检测。
Proc Natl Acad Sci U S A. 2010 Dec 7;107(49):21104-9. doi: 10.1073/pnas.1012989107. Epub 2010 Nov 15.

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.

DOI:10.1016/j.heares.2011.10.001
PMID:22016077
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3230685/
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。