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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。
OBJECTIVE: To summarize the cloned genes related to non-syndromic deafness, summarize the function of these genes and their expression characteristics in the cochlea, and to introduce the current status of molecular genetic research on nonsyndromic deafness in China. Methods The data are from the literature about molecular genetics of non-syndromic deafness and the achievements made in recent years in this field and the author’s research experience. RESULTS: Twenty-three non-syndromic deafness-related genes were identified and cloned. Some of them were associated with non-syndromic and synthetic deafness or with autosomal dominant and autosomal recessive non-syndromic Deafness is related. Deafness gene in the cochlea has a more specific expression, according to its characteristics can be some functional classification; in the individual’s genetic background, there is the degree of hearing impairment and deafness gene interaction genes. High frequency sensorineural deafness gene GJB3 is cloned by our laboratory, our scholars still found some GJB2 and mitochondrial gene mutations in some non-syndromic deafness patients, and currently focuses on the non-syndromic deafness gene localization and Cloning and deafness gene function study. CONCLUSIONS Continuing to identify and clone deafness-related genes is a challenging topic. Identification of deafness gene by single gene inheritance may help to understand more about the molecular mechanism of hearing and pathology of deafness.