GJB2基因突变与听力损失的关系

Hearing loss associated with GJB2gene mutation

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.