摘要
耳聋泛指不同程度的听力损失，其病因复杂，遗传因素占重要地位。遗传性耳聋一般分为两种：一种为综合征型耳聋（syndromic hearing loss，SHL）；另一种为非综合征型耳聋（nonsyndromic hearing loss，NSHL）。临床上，NSHI。约占遗传性耳聋的80％。迄今为止，已有140多个基因位点被认为与NSHL有密切关系，其中GJB2基因是目前已知的最主要的致聋基因，
Summary 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 deaf ness. More than 140 genes 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 impor- tant role in deafness genes. This paper reviewed the studies on the association between GJB2 gene mutation and HI to provide reference for genetic diagnosis and counseling.
出处
《临床耳鼻咽喉头颈外科杂志》
CAS
北大核心
2013年第19期1099-1102,共4页
Journal of Clinical Otorhinolaryngology Head And Neck Surgery
基金
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)
