| 非综合征型遗传性耳聋常见基因突变及检测方法的研究进展 |
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| 引用本文： | 陆小梅(综述),彭琪,黎四平(审校). 非综合征型遗传性耳聋常见基因突变及检测方法的研究进展[J]. 国际儿科学杂志, 2016, 0(2). DOI: 10.3760/cma.j.issn.1673-4408.2016.02.006 |
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| 作者姓名： | 陆小梅(综述) 彭琪 黎四平(审校) |
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| 作者单位： | 523325,东莞市儿童医院遗传与感染疾病实验室 东莞市儿科研究所遗传研究室 |
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| 基金项目： | 东莞市科技计划重点项目(2013108101018)；广东省科技计划项目(2014A020213001)@@@@Key Poject of Science and Technology Project of Dongguan (2013108101018)；Guang-dong Science and Technology Project (2014A020213001) |
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| 摘 要： | 耳聋是严重影响人类生存质量的致残性疾病，遗传性因素在新生儿耳聋发病因素中占很大比例。随着基因组学技术的发展，耳聋分子遗传学研究逐渐成为研究的前沿领域。分子诊断技术作为查找致病原因、协助临床诊断以及开展产前诊断的主要手段发挥着重要的作用。该文就非综合征型遗传性耳聋常见的基因突变及检测方法的研究进展作一综述。
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| 关 键 词： | 非综合征性耳聋 基因诊断 致病基因 |
Progress of common gene mutations and detection methods of non-syndromic inherited hearing impair-ment |
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| Abstract: | Deafness is a seriously disabling disease affecting the quality of human life and genetic fac-tors account for a large proportion in the pathogenesis of newborn deafness.With the development of genomics technology,molecular genetics of hearing loss has become a cutting-edge field under investigation in otology. Molecular diagnostic technique plays an important role in exploring the pathogenesis,assisting clinical diagnosis and the prenatal diagnosis.In this review,we introduce the common pathogenic gene mutations and the diagnosis of non-syndromic inherited hearing impairment. |
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| Keywords: | Nonsyndromic hearing loss Genetic diagnosis Pathogenic gene |
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