| 非综合征型遗传性耳聋基因的研究进展及相关网络资源 |
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| 引用本文： | 徐悦凡,任鲁风,杨宇. 非综合征型遗传性耳聋基因的研究进展及相关网络资源[J]. 遗传, 2002, 24(1): 65-71 |
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| 作者姓名： | 徐悦凡 任鲁风 杨宇 |
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| 作者单位： | 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3000711.The Womens Health Institute of Tianjin,Tianjin,300204,China; 2.The Chromosome Laboratory of NanKai University,Tianjin,300071,China |
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| 基金项目： | 天津市卫生局科技基金 ( 99KY0 44)资助 |
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| 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。Abstract: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 23 genes have been identified.In this article,these 23 genes were summarized systematically and some databases about hereditary deafness were provided for reference.
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| 关 键 词： | nonsyndromic hereditary hearing impairment deafness gene 突变 Key words 非综合征型遗传性听力缺损 耳聋基因 |
| 文章编号： | 0253-9772(2002)01-0065-07 |
| 修稿时间： | 2001-02-26 |
Nonsyndromic Hereditary Deafness Genes Research Progress and Related Databases |
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| XU Yue-fan ,REN Lu-feng ,YANG Yu. Nonsyndromic Hereditary Deafness Genes Research Progress and Related Databases[J]. Hereditas, 2002, 24(1): 65-71 |
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| Authors: | XU Yue-fan REN Lu-feng YANG Yu |
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| Affiliation: | The Womens Health Institute of Tianjin, Tianjin, 300204, China. |
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| Abstract: | 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 23 genes have been identified.In this article,these 23 genes were summarized systematically and some databases about hereditary deafness were provided for reference. |
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| Keywords: | nonsyndromic hereditary hearing impairment deafness gene mutation |
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