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[听力障碍的分子遗传学视角]

[Perspectives of molecular genetics of hearing disorders].

作者信息

Kempf H G, Brändle T U

机构信息

Universitäts-HNO-Klinik Tübingen.

出版信息

HNO. 1993 Feb;41(2):68-76.

PMID:8463117
Abstract

In the last few years research efforts have succeeded in detectury the genetic background of several hereditary hearing disorders by molecular biological methods. The genetic code was been decoded for Neurofibromatosis types 1 and 2, as well as for such X-linked diseases as Alport's syndrome or Norrie's disease. Besides the classic genetic tools as chromosomal analysis, molecular biological techniques and methods have become important clinically for the ENT-specialist. In the present review we show the principles and applications of DNA-and RNA-analysis with hybridization techniques in Southern- and Northern-blot techniques, as well as in-situ hybridization and polymerase chain reaction (PCR). These molecular biological techniques will help improve the detection and analysis of hereditary inner ear disorders, but also be able to study in greater detail tumor carcinogenesis and mutagenesis. The various techniques are explained and the applications are demonstrated.

摘要

在过去几年中,研究工作已成功通过分子生物学方法检测出几种遗传性听力障碍的遗传背景。1型和2型神经纤维瘤病以及诸如阿尔波特综合征或诺里病等X连锁疾病的遗传密码已被破译。除了作为经典遗传工具的染色体分析外,分子生物学技术和方法对耳鼻喉科专家在临床上也变得很重要。在本综述中,我们展示了DNA和RNA分析在Southern和Northern印迹技术中的杂交技术原理及应用,以及原位杂交和聚合酶链反应(PCR)。这些分子生物学技术将有助于改善遗传性内耳疾病的检测和分析,而且还能够更详细地研究肿瘤的致癌作用和诱变作用。文中对各种技术进行了解释并展示了其应用。

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