引用本文:周 凯,刘水霞,冯梦龙,黄兰诚,唐凤珠.常见耳聋基因突变与区域及民族之间差异相关性研究进展[J].中国临床新医学,2019,12(12):1349-1354.
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常见耳聋基因突变与区域及民族之间差异相关性研究进展
周 凯,刘水霞,冯梦龙,黄兰诚,唐凤珠
530021 南宁,广西壮族自治区人民医院耳鼻咽喉头颈科(周 凯,冯梦龙,黄兰诚,唐凤珠);530021 南宁,广西医科大学研究生院(周 凯,黄兰诚);530001 南宁,广西中医药大学(冯梦龙);710000 西安,西北妇女儿童医院耳鼻喉科(刘水霞)
摘要:
[摘要] 耳聋是人类主要的残疾病之一,严重影响患者的身心健康和生活质量。由遗传因素导致的耳聋占绝大多数,耳聋基因诊断已逐步发展为必要的筛查手段,不同国家、不同地区、不同种族及不同民族间常见耳聋基因GJB2、线粒体12S rRNA、SLC26A4和GJB3突变的频率及热点各有差异。该文针对常见耳聋基因突变与区域及民族之间差异相关性的研究进展进行综述。
关键词:  耳聋基因  区域  民族  研究进展
DOI:10.3969/j.issn.1674-3806.2019.12.25
分类号:R 764.43
基金项目:广西科技厅重点研发项目(编号:桂科AB17292089);广西医疗卫生适宜技术开发与推广应用项目(编号:S2017078,S201421-05);广西卫健委科研课题(编号:桂卫Z20170366,桂卫Z2016593,桂卫Z2014215)
Advances in research on correlation between common deafness gene mutations and regional and ethnic differences
ZHOU Kai, LIU Shui-xia, FENG Meng-long, et al.
Department of Otorhinolaryngology-Head and Neck, the People′s Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China
Abstract:
[Abstract] Deafness is one of the major human disabilities, and seriously affects the patients′ physical and mental health and quality of life. Genetic factors are the main causes of deafness and gene diagnosis of deafness has gradually developed into a necessary screening tool. The frequencies and hot spots of mutations of common genes(GJB2, mitochondrial 12S rRNA, SLC26A4 and GJB3) are significantly different among different countries, regions, human races and ethnic groups. In this paper, the advances in research on the correlation between common deafness gene mutations and regional and ethnic differences are reviewed.
Key words:  Deafness genes  Regions  Ethnic groups  Research progress