语前聋患儿基因突变诊断的研究进展  

Progress in research on genetic diagnosis of prelingual deafness of children

作　　者：李红娟[1] 宋亚亮[2] 刘黎明[3] 李芬[3] 

机构地区：[1]西安交通大学医学院MPH601班,陕西西安710061 [2]西安市儿童医院耳鼻喉科,陕西西安710003 [3]西安交通大学医学院第一附属医院,陕西西安710061

出　　处：《中国妇幼健康研究》2008年第6期587-588,共2页Chinese Journal of Woman and Child Health Research

摘　　要：语前聋已成为儿童语言学习、正常言语交流及社会适应能力获得的最大障碍。在非综合征型耳聋患者中,大约50%是由于基因突变造成的。如何找出遗传基因突变在语前聋患儿中的分布规律受到了许多学者的关注。GJB2基因突变和线粒体12S rRNA基因1555G突变等均可导致出生时不表现听力损失、出生后出现迟发性听力损失。这些基因突变受到越来越多的重视。该文分析了近年来对遗传基因突变与语前聋的研究成果,综述遗传基因突变与语前聋的关系。Prelingual deafness has become a most handicap to learn language, perform normal linguistic communication and obtain ability of social adaptation. 50% of patients with nonsyndromic type of deafness are caused by gene mutations. How to find out distribution characteristics of mutant genes among the children with prelingual deafness has attracted many scholars＇ concern. At present, mutations of GJB2 and mtDNA 12SrRNA 1555G genes can cause postnatal tardive hearing loss without birth hearing loss. These mutations of the genes has been paid more and more attention. In this paper, we reviewed progress in research on relationships between gene mutations and prelingual deafness in recent years.

关 键 词：基因 突变 语前聋 GJB2基因 线粒体12SrRNA 

分 类 号：R764.43[医药卫生—耳鼻咽喉科] R729[医药卫生—临床医学]