中华医学杂志（英文版）2002，Vol.115Issue(7)：1078-1081,4.
非综合征性耳聋基因及在我国的研究现状
Deafness genes for nonsyndromic hearing loss and current studies in China
摘要
Abstract
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.关键词
非综合征性耳聋/遗传/基因/突变Key words
nonsyndromic hearing loss/hereditary/gene/mutation分类
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肖自安,谢鼎华..非综合征性耳聋基因及在我国的研究现状[J].中华医学杂志（英文版）,2002,115(7):1078-1081,4.基金项目
This paper was supported by the National Natural Science Foundation of China (No. 30070807 and 30000094). （No. 30070807 and 30000094）
