非综合征型遗传性耳聋常见基因突变及检测方法的研究进展

摘要

Deafness is a seriously disabling disease affecting the quality of human life and genetic fac-tors account for a large proportion in the pathogenesis of newborn deafness.With the development of genomics technology,molecular genetics of hearing loss has become a cutting-edge field under investigation in otology. Molecular diagnostic technique plays an important role in exploring the pathogenesis,assisting clinical diagnosis and the prenatal diagnosis.In this review,we introduce the common pathogenic gene mutations and the diagnosis of non-syndromic inherited hearing impairment.%耳聋是严重影响人类生存质量的致残性疾病，遗传性因素在新生儿耳聋发病因素中占很大比例。随着基因组学技术的发展，耳聋分子遗传学研究逐渐成为研究的前沿领域。分子诊断技术作为查找致病原因、协助临床诊断以及开展产前诊断的主要手段发挥着重要的作用。该文就非综合征型遗传性耳聋常见的基因突变及检测方法的研究进展作一综述。