钦州地区2256名新生儿听力筛查结果及相关易感基因联合检测分析

The auditory screening concurrent the deafness predisposing genes screening on 2256 neonates in Qinzhou

目的对新生儿听力筛查联合耳聋易感基因检测进行研究。方法新生儿听力筛查使用瞬态声诱发耳声发射(transient otoacoustic emission,TEOAE)法进行初筛,初筛阳性者送至有脑干诱发电位反应(auditory brainstem response,ABR)设备的医院进行复核。易感基因检测使用测序法或者溶解曲线法,检测目标包括GJB2、GJB3、SLC26A4和线粒体12S r RNA等相关基因座。结果 2256名新生儿中,TEOAE初筛阳性为126例,ABR复查阳性为6例。易感基因检测中,阳性结果45例。其中,1例ABR复查阳性者同时检测出易感基因阳性。讨论在新生儿听力筛查实施中,常规筛查联合易感基因筛查可相互结合,常规听力筛查机构应加大实验室建设力度,使之兼具基因筛查的能力。

Objective：To analysis the necessities of the deafness genes analysis on auditory screening.Methods：The preliminary screening method is transient otoacoustic emission（TEOAE）. The positive individuals on TEOAE will be reexamined with auditory brainstem response（ABR）. The methods on the deafness genes screening is sequence or melt curve analysis,the target genes include GJB2,GJB3,SLC26A4 and 12 S r RNA. Results：In 2256 neonates,126 of them are TEOAE screening positive,and 6 individuals are ABR reexamined positive. On the deafness genes screening,45 individuals are positive. 1 individual is both the ABR reexamined positive and the deafness gene mutation carrier.Conclusions：In the work of the auditory screening on neonates,the screening on deafness predisposing genes is an important complement method. The institute for auditory screening should improve the construction on the lab of genetic analysis.