Genes responsible for human hereditary deafness: Symphony of a thousand
Genes responsible for human hereditary deafness: Symphony of a thousand
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DOI：
10.1038/ng1296-385
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发表时间：
1996-12-01
期刊：
影响因子：
30.8
通讯作者：
Petit, C
中科院分区：
文献类型：
--
作者：
Petit, C
听力损失是人类最常见的感觉缺陷。数十个基因可能与孤立性耳聋的早期发病形式有关，并且已经描述了数百种听力损失综合征。在孤立性耳聋家系中进行连锁分析所遇到的困难以及有关外周听觉过程中特异性分子成分的数据的缺乏，长期以来一直阻碍着遗传性听力损失基因的鉴定。目前，这两个领域都取得了迅速进展。这应该允许完成拼图的主要部分，以了解耳朵的发育和功能。
Hearing loss is the most frequent sensory defect in humans. Dozens of genes may be responsible for the early onset forms of isolated deafness and several hundreds of syndromes with hearing loss have been described. Both the difficulties encountered by linkage analysis in families affected by isolated deafness and the paucity of data concerning the molecular components specifically involved in the peripheral auditory process, have long hampered the identification of genes responsible for hereditary hearing loss. Rapid progress is now being made in both fields. This should allow completion of major pieces of the jigsaw for understanding the development and function of the ear.