GJB2基因突变与听力损失的关系

崔庆佳; 黄丽辉

doi:10.13201/j.issn.1001-1781.2013.19.019

GJB2基因突变与听力损失的关系

崔庆佳^1,2,3,
黄丽辉^1,2,3, ,

- 首都医科大学附属北京同仁医院北京市耳鼻咽喉科研究所耳鼻咽喉头颈外科学教育部重点实验室(首都医科大学)(北京, 100005)
基金项目:
卫生公益性行业科研专项基金 (No:201202005)

首都医学发展科研基金项目 (No:20091049)

首都医科大学基础临床合作基金 (No:12JL07)

详细信息

通讯作者: 黄丽辉,E-mail:huangpub@126.com

中图分类号: R764.4

收稿日期: 2012-10-29

Hearing loss associated with GJB2gene mutation

CUI Qingjia^1,2,3,
HUANG Lihui^1,2,3, ,

More Information

Corresponding author: HUANG Lihui, E-mail: huangpub@126.com

Received Date: 29 October 2012

摘要

- GJB2基因 /
- 突变 /
- 听力损失
Abstract: Deafness refers to different degrees of hearing loss (HI) .The factors leading to HI are complex, among which heredity is a major one.Nonsyndromic hearing loss (NSHL) accounts for 80% of hereditary deafness.More than 140genes have been regarded to be closely related to NSHL.The mutation of GJB2 (gap junction protein, beta 2) gene accounts for 80%of NSHL and more than 50%of children NSHL, playing the most important role in deafness genes.This paper reviewed the studies on the association between GJB2gene mutation and HI to provide reference for genetic diagnosis and counseling.
- GJB2 gene /
- mutation /
- hearing loss

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参考文献(30)

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