非综合征型遗传性耳聋基因的研究进展及相关网络资源  

Nonsyndromic hereditary deafness genes research progress and related databases

作　　者：徐悦凡[1] 任鲁风[1] 杨宇[2] 

机构地区：[1]天津市妇女保健所,天津300204 [2]南开大学染色体实验室,天津300071

出　　处：《科学新闻》2001年第13期41-41,共1页Science News

基　　金：天津市卫生局科技基金(99KY044)资助

摘　　要：耳聋是一种最常见的人类感觉系统缺陷,70%的遗传性耳聋属于非综合征型听力缺损。据估计非综合征型遗传性耳聋基因总数在100个以上,迄今已经有大约80个基因位点被绘制于人类染色体上,18个基因被鉴定。本文系统地介绍了已鉴定的18个非综合征型耳聋基因,这些基因分别编码两个线粒体基因12S rRNA 和 tRNA Ser,COCH,COL11A2,DFNA5,diaphanous(DIAPH),三个间隙连接蛋白(GJB2,GJB3和 GJB6),钾离子通道亚基4(KCNQ4),两个非常规肌球蛋白(MYO7A和 MYO15),Otoferlin(OTOF),pendrin(PDS),两个 POU 域转录因子(POU3F4和POU4F3),α-tectorin(TECTA)以及跨膜丝氨酸蛋白酶3(TMPRSS3),并列举了如遗传性听力缺损网站(Hereditary Hearing Loss Homepage,Http://www.uia.ac.be/dnalab/hhh)等与遗传性耳聋相关的部分网络资源以供参考。Deafness is the most prevalent sensory system impairment of human,and 70% of genetic deafness belongs to nonsyndromic hearing impairment.The total number of genes involved in nonsyndromic hereditary deafness has been estimated to above 100.So far,approximate 80 loci have been mapped to human chromosome,and 18 genes have been identified.In this article,these 18 genes,which encode 12S rRNA and tRNASer(the genes on mitochondrial DNA), COCH,COL11A2,DFNA5,diaphanous(DIAPH),three gap junction proteins(GJB2,GJB3 and GJB6),potassium channel subunit 4(KCNQ4),two unconventional myosins(MYO7A and MYO15),Otoferlin(OTOF),pendrin(PDS),two POU domain transcription factor(POU3F4 and POU4F3),α-tectorin(TECTA),transmembrane serine protease 3 (TMPRSS3),Were summarized systematically and some databases(such as Hereditary Hearing Loss Homepage,Http:// www.uia.ac.be/dnalab/hhh)about hereditary deafness were provided for reference.

关 键 词：非综合征型 遗传性耳聋 网络资源 基因研究 听力缺损 突变 

分 类 号：Q78[生物学—分子生物学] TP393[自动化与计算机技术—计算机应用技术]