非综合征型遗传性耳聋基因的研究进展及相关网络资源.pdfVIP

( ) ( ) 　遗 　传 HER ED I TA S Beijing 24 1 :65～7 1 ,2002 　　　　　　　　　　　　　　　　　专论与综述 非综合征型遗传性耳聋基因的研究进展及相关网络资源 1 1 2 徐悦凡 ,任鲁风 ,杨 　宇 ( 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 30007 1) 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 个基因座被绘制于人类染色体上 ,至少 23 个基因得鉴定 。本 文系统地介绍了已鉴定的23 个非综合征型耳聋基因 ,并列举了与遗传性耳聋相关的部分网络资源以供参考 。 关键词 :非综合征型遗传性听力缺损 ;耳聋基因;突变 中图分类号 :R394 　　　文献标识码 :A 　　　 文章编号 :0253 - 9772 (2002) 0 1 - 0065 - 07 Nonsyndromic Hereditary Deafness Genes Research Progress and Related Databases 1 1 2 XU Yuefan ,R EN L ufeng , YAN G Yu ( 1. The Women ’s Healt h I nstit ute of Tianj i n , Tianj i n , 300204 , Chi na ; 2 . The Ch romosome L aboratory of N an Kai University , Tianj i n , 30007 1, Chi na) Abstract :Deafness is t he most prevalent sensory system imp airment of human ,and 70 % of genetic deafness belongs to nonsyndromic hearing imp airment . The total number of genes involved in nonsyndromic hereditary deafness has been esti mated to above 100 . So far ,approximate 80 loci have been mapp ed to human chromosome ,and 23 genes have been identi fied . In t his article ,t hese 23 genes were summarized systematically and some databases about hereditary deafness were pro vided for reference . Key words :nonsyndromic hereditary hearing imp airment ;deafness gene ;mutation (