| 遗传性听力损害基因研究进展 |
| |
| 引用本文： | 袁慧军,戴朴,曹菊阳,郭维维,韩东一,杨伟炎. 遗传性听力损害基因研究进展[J]. 中华耳科学杂志, 2003, 1(1): 60-69 |
| |
| 作者姓名： | 袁慧军 戴朴 曹菊阳 郭维维 韩东一 杨伟炎 |
| |
| 作者单位： | 解放军总医院耳鼻咽喉研究所,北京,100853 |
| |
| 摘 要： | 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。
|
| 关 键 词： | 听力损害 遗传学 综合征型听力损害 非综合征型听力损害 基因突变 分子遗传学检测 临床诊断 |
Advances In Genetics of Hearing Impairment |
| |
| YUAN Huijun,DAI Pu,CAO Juyang,GUO Weiwei,HAN Dongyi,YANG Weiyan Institute of Otolargngology,Chinese PLA General Hospital. Advances In Genetics of Hearing Impairment[J]. Chinese Journal of Otology, 2003, 1(1): 60-69 |
| |
| Authors: | YUAN Huijun DAI Pu CAO Juyang GUO Weiwei HAN Dongyi YANG Weiyan Institute of Otolargngology Chinese PLA General Hospital |
| |
| Abstract: | 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. |
| |
| Keywords: | Hearing impairment Genetics Syndromic hearing impairment Non - syndromic hearing impairment Gene mutation Molecular genetic test Clinical diagnosis |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ |
|
