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非综合征性耳聋的分子遗传学

Molecular genetics of non-syndromic deafness.

作者信息

Piatto Vânia B, Nascimento Ellen C T, Alexandrino Fabiana, Oliveira Camila A, Lopes Ana Cláudia P, Sartorato Edi Lúcia, Maniglia José Victor

机构信息

Department of Anatomy, Medical School, FAMERP, São José do Rio Preto, SP.

出版信息

Braz J Otorhinolaryngol. 2005 Mar-Apr;71(2):216-23. doi: 10.1016/s1808-8694(15)31313-6. Epub 2005 Aug 2.

DOI:10.1016/s1808-8694(15)31313-6
PMID:16446920
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9450533/
Abstract

One in every 1,000 newborn suffers from congenital hearing impairment. More than 60% of the congenital cases are caused by genetic factors. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors. Molecular genetics of deafness has experienced remarkable progress in the last decade. Genes responsible for hereditary hearing impairment are being mapped and cloned progressively. This review focuses on non-syndromic hearing loss, since the gene involved in this type of hearing loss have only recently begun to be identified.

摘要

每1000名新生儿中就有1名患有先天性听力障碍。超过60%的先天性病例是由遗传因素引起的。在大多数情况下，听力损失是由遗传和环境因素共同导致的多因素疾病。在过去十年中，耳聋的分子遗传学取得了显著进展。导致遗传性听力障碍的基因正在逐步被定位和克隆。本综述聚焦于非综合征性听力损失，因为这类听力损失所涉及的基因直到最近才开始被识别。

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