965例新生儿听力及聋病易感基因联合筛查结果分析  

A Study of Universal Newborn Hearing Screening Combined with Deafness Predisposing Gene Screening in 965 Newborns

作　　者：王莹 关兵[2] 叶实明 徐丽[2] 常玲美[2] 于爱民[2] 

机构地区：[1]扬州大学临床医学院耳鼻咽喉头颈外科,扬州225001 [2]扬州大学医学院附属医院江苏省苏北人民医院耳鼻咽喉科

出　　处：《听力学及言语疾病杂志》2015年第3期248-251,共4页Journal of Audiology and Speech Pathology

基　　金：江苏省社会发展项目(BE2012706)资助

摘　　要：目的探讨新生儿听力及聋病易感基因联合筛查的临床意义。方法选择出生后3~5天的965例新生儿,采集足跟血提取基因组DNA进行耳聋易感基因[线粒体12SrRNA c.1555A〉G、c.1494C〉T,GJB2基因35delG、167delT、176_191del16、235delC、299_300delAT,GJB3基因538C〉T、547G〉A,SLC26A4（PDS）基因281C〉T、589G〉A、IVS7-2A〉G、1174A〉T、1226G〉A、1229C〉T、IVS15＋5G〉A、1975G〉C、2027T〉A、2162C〉T、2168A〉G]的位点检测;同时进行听力筛查,初筛采用筛查型耳声发射（DPOAE）,复筛采用筛查型OAE结合自动判别听性脑干反应（AABR）,分析两种筛查的结果。结果 965例中53例（5.49%）存在耳聋基因突变,其中,1例为线粒体12SrRNA c.1555〉G突变,33例为GJB2基因突变,18例为SCL26A4基因突变,1例为GJB3基因突变;听力初筛未通过28例,复筛未通过18例,10例在3月龄时进行了听力学诊断,最终确诊6例新生儿听力损失。965例中,听力筛查与基因筛查均通过905例,均未通过11例,听力筛查通过但基因筛查未通过42例,听力筛查未通过但基因筛查通过7例。结论新生儿听力和聋病易感基因联合筛查,可发现单纯听力筛查不能发现的部分药物性聋和迟发性聋患儿。Objective To investigate the clinical significance of universal newborn hearing screening for deaf‐ness predisposing genes in newborns .Methods A total of 965 newborns at Subei Hospital in Yangzhou were taken blood samples at heel and received for deafness predisposing genes screening .The most common deafness genes were detected by gene sequencing ,including mt12SrRNA c .1555A 〉 G ,c .1494C 〉 T ,GJB2 35delG ,167delT ,176_191del16 ,235delC ,299_300delAT ,SLC26A4 281C〉 T ,589G〉A ,IVS7 -2A〉G ,1174A〉 T ,1226G〉 A ,1229C〉 T ,IVS15＋5G〉 A ,1975G〉C ,2027T 〉 A ,2162C〉 T ,2168A〉 G ,GJB3538C〉 T ,547G〉 A .At the same time ,all infants received hearing screening .Otoacoustic emission（OAE） was used as the first step screening ,and OAE combined with auto-auditory brainstem response（AABR） detection were used as the second step screening . Results Fifty -three cases （5 .49% ） had partial gene mutation ,one case of 12SrRNA gene mutation ,33 cases of GJB2 gene mutation ,18 cases of SCL26A4 gene mutation ,one case of GJB3 gene mutation .Of 965 cases ,28 cases failed to pass hearing screening while 18 cases did not pass rescreening .There were 10 cases taking audiological di‐agnosis at the age of three months .Six cases were confirmed with hearing loss .There were 905 cases passed thehearing screening and genetic screening ,11 failed born hearing and gene screening .Conclusion That the newborn gene screening was added into the hearing screening can be helpful to find out the deafness predisposing genes and drug -induced or late-onset hearing loss .

关 键 词：新生儿 听力筛查 耳聋 基因 

分 类 号：R764.04[医药卫生—耳鼻咽喉科]