摘要
目的:对无耳聋家族史及无噪声暴露史,排除病毒感染后致聋的青少年及儿童是否存在connexin26突变。方法:2004年7月至2007年1月就诊的30岁以下的不明原因的神经性耳聋患者,共44例,行听力学检查包括电测听、声阻抗、脑干诱发电位及保留外周血2ml做是否有connexin26突变的pcr扩增及扩增目的片段直接测序分子生物学实验室检测。采用正常标准对照及阳性对照,阳性对照组系一近亲婚配后耳聋家族。结果:对于connexin26突变的结果,在26例患者中未发现有该基因突变,在18例语前聋患者中有5例该基因突变,突变均位于第二编码基因的235号位置缺失c的突变。在正常对照组和阳性对照组的耳聋患者中未发现该基因突变(fisher’s精确概率P=0.01)。结论:connexin26突变主要累及语前耳聋患者。
Objective： To study the connexin26 mutation existing in the idiopathic deafness of Chinese children and adolescent without family history, noise expose and virus infections. Methods： In all 44 children and adolescent with sensorineural hearing loss, without obvious family history, noise expose and virus infections, were screened for connexin26 by polymerase chain reaction（PCR）. The amplicons were then sequenced in single direction and analyzed for mutation. Audiometric testing, including pure-tone audiometry, and auditory evoked brainstem response（ABR） was also performed to determine the degree of hearing loss. CT and MRI must be used to exclude middle-ear abnormal. Results： 26 postlingual deafness doesn＇t exist connexin 26 mutation while 5 cases in 18 both ear prelingural deafness were found the 235delC mutation. There were no connexin 26 mutation in both norm group and positive control group （fisher＇ s accurate rate： P = 0.01）. Conclusion： The 235delC mutation often happens on prelingual deafness
出处
《河南大学学报（医学版）》
CAS
2009年第2期133-135,共3页
Journal of Henan University:Medical Science
