Deafness genes for nonsyndromic hearing loss and current studies in China

非综合征性耳聋基因及在我国的研究现状(英文)

Objectives To review the identified deafness genes related to nonsyndromic hearing loss (NSHL) and summarize their expressions and functions in the cochlea and to introduce the current studies of molecular genetics on NSHL in China Methods The presented data are based on a review of the literature as well as the author's experience with NSHL and communications with other researchers in China over the past 3 years Results Currently, 23 deafness genes related to NSHL have been cloned and identified Some genes are associated with both NSHL and syndromic hearing loss (SHL), in both dominant and recessive deafness Deafness genes have a highly specific expression pattern in the inner ear Some functional categories are starting to emerge from a characterization of deafness genes There are interacting genes in the genetic background that influence the extent of hearing impairment The GJB3 gene, which is associated with high frequency hearing impairment, was cloned in a Chinese laboratory Mutations in some genes, such as GJB2 and mitochondrial 12S rRNA, have been screened in Chinese patients with NSHL Mapping new deafness gene loci as well as identifying new genes and their functions is an active area of study in China Conclusions It is challenging for us to continue identifying new deafness genes and analyze gene functions By identifying genes responsible for monogenic hearing impairment, more insight may be gained into the molecular process of hearing and the pathology of hearing loss

目的 综述已克隆的非综合征性耳聋相关基因 ,总结这些基因的功能和在耳蜗的表达特点 ,并介绍我国非综合征性耳聋分子遗传研究现状。方法 资料来源于非综合征性耳聋分子遗传学研究相关文献 ,和国内近年来在本研究领域的成果及作者的研究经历。结果 已鉴定和克隆非综合征性耳聋相关基因 2 3个 ,其中有些基因与非综合征性和综合征性耳聋都相关 ,或与常染色体显性遗传和常染色体隐性遗传的非综合征性耳聋都相关。耳聋基因在耳蜗具有较特异性的表达方式 ,根据其特点可进行某些功能分类 ;在个体的遗传背景中存在影响听力受损程度的与耳聋基因相互作用的基因。高频感音神经性耳聋基因GJB3是由我国实验室克隆 ,我国学者还在一些非综合征性耳聋患者中发现GJB2和线粒体基因等突变 ,目前主要致力于非综合征性耳聋新基因的定位和克隆及耳聋基因的功能研究。结论 继续鉴定和克隆耳聋相关基因是非常值得挑战的一个课题。通过对单基因遗传的耳聋基因进行鉴别 ,可能有助于更多了解听觉分子过程和耳聋的病理机制。