遗传性听力损害基因研究进展

Advances In Genetics of Hearing Impairment

遗传性听力损害具有高度的遗传异质性,据估计与几百个基因有关。随着人类基因组计划的快速进展及为人类的健康事业提供的便利,遗传性听力损害相关基因的定位克隆工作近十年来取得了令人瞩目的进展。本文将简要介绍综合征型和非综合征型听力损害的核基因定位克隆和突变的研究进展,以及遗传性损害基因突变检测的临床应用情况。

Hereditary hearing impairment exhibits incredible genetic heterogeneity. It was estimated that several hundred genes associate with hereditary hearing impairment. With the advances in Human Genome Project and the genomics offering for human health, our understanding of the genetics of hearing impairment has advanced rapidly during the last decade. In this review, we focus on some of the common causes of syndromic hearing impairment due to nuclear gene abnormalities, oudining the current state of knowledge of the genetics of non - syndromic hearing impairment. The implications of those findings for clinic are also discussed.