Markova T G, Poliakov A V
Vestn Otorinolaringol. 2007(4):7-10.
The article reviews the latest achievements of molecular-genetic technologies in diagnosis of hereditary hypoacusis, statistics on hereditary hypoacusis morbidity in different countries. Arguments for genetic testing, diagnostic algorithm of congenital hypoacusis and trends in prophylaxis are considered. Presently 65 genes are identified which are related with syndromes and non-syndrome forms of neurosensory hypoacusis. In foreign countries about 200 mutations in 8 genes are diagnosed now. Pathological changes of the majority of genes lead to peripheral neurosensory hypoacusis as all these genes code proteins of the internal ear. In view of this, genetic testing makes topic diagnosis of the disease of the organ of hearing. Most of genetically confirmed hearing problems are indication for cochlear implantation. Prophylactic activity should be focused on explanation of the role and possibilities of genetic counseling and DNA diagnostic tests, promotion of knowledge of etiological structure of congenital hearing disorders. Active measures are necessary for early detection of genetic alterations among risk groups, early diagnosis of mutation carriers among couples of reproductive age with normal hearing.
本文综述了分子遗传学技术在遗传性听力减退诊断方面的最新成果，以及不同国家遗传性听力减退的发病率统计数据。文中探讨了基因检测的依据、先天性听力减退的诊断算法以及预防趋势。目前已鉴定出65个与神经感觉性听力减退的综合征型和非综合征型相关的基因。在国外，目前已诊断出8个基因中的约200种突变。大多数基因的病理变化会导致外周神经感觉性听力减退，因为所有这些基因都编码内耳蛋白。鉴于此，基因检测成为听力器官疾病的精准诊断方法。大多数经基因确诊的听力问题是人工耳蜗植入的指征。预防工作应侧重于解释遗传咨询和DNA诊断检测的作用及可能性，普及先天性听力障碍病因结构的知识。对于高危人群中基因改变的早期检测以及听力正常的育龄夫妇中突变携带者的早期诊断，采取积极措施很有必要。
