未通过新生儿听力筛查的婴幼儿耳聋基因与AABR联合筛查结果分析  

Deafness Gene Screening and AABR in Children Hearing Loss Diagnose

作　　者：胡海利[1] 李卫东 邵子瑜[1] 徐军杨 李欢欢[1] 王丹[1] 

机构地区：[1]合肥市妇幼保健所,合肥230001

出　　处：《听力学及言语疾病杂志》2017年第6期579-582,共4页Journal of Audiology and Speech Pathology

基　　金：合肥市医学重点专科建设计划资助项目(合卫科教[2016]256号)

摘　　要：目的探讨耳聋基因与听力联合筛查对婴幼儿听力损失诊断的意义。方法对2015年10月至2016年12月未通过新生儿听力筛查转诊至合肥市妇幼保健所的505例婴幼儿进行AABR复筛,同时采集足跟血制成干滤纸片,对常见的4个耳聋基因的9个位点进行筛查,包括:GJB2(235delC、299delAT、176del16、35delG)、GJB3(538C>T)、SLC26A4(IVS7-2A>G、2168A>G)、线粒体12SrRNA(1555A>G、1494C>T)。结果 505例婴幼儿中有69例(13.7%,69/505)携带耳聋易感基因突变,其中GJB2基因突变56例(81.16%,56/69),SLC26A4基因突变10例(14.49%,10/69),线粒体12SrRNA基因突变3例(4.35%,3/69),未检出GJB3基因突变。505例中,AABR筛查未通过376例,未通过率为74.46%;69例耳聋基因突变婴幼儿中有37例进行了ABR检测,其中32例(86.49%)存在不同程度听力损失。结论本组婴幼儿耳聋基因突变类型以GJB2基因为主,其次为SLC26A4基因,耳聋基因筛查是听力筛查的有效补充,两者联合筛查有利于婴幼儿听力损失的早期发现和干预。Objective The aim of this study was to find out the carrying rate and the type of mutation of children deafness gene and discuss the significance of combined screening of deafness gene and hearing screening.Methods From October 2015 to December 2016,a total of 505 children from primary screening institutions were done with AABR hearing re-screening and deafness gene through blood filter paper by heel for gene sequencing at the hearing screening clinic of Hefei Maternal and Child Health Hospital.The 9 mutation sites of deafness genes included GJB2(235 delC,299 delAT,176 del16,35 delG),GJB3(538 C>T),SLC26 A4(IVS7-2 A>G,2168 A>G)and mitochondrial 12 SrRNA(1555 A>G,1494 C>T).Results There were 69 children with deafness susceptibility genes in 505 cases and its overall carrying rate was 13.7%.There were 56 cases(81.16%)with GJB2 gene mutations,10 cases(14.49%)with SLC26 A4 gene mutations,and 3 patients(4.35%)with mitochondrial 12 SrRNA gene mutations.GJB3 gene mutations wer not detected.There were 376 who failed AABR rescreening out of 505.The total failure rate for AABR rescreening was 74.46%.Thirty-seven cases were examined with ABR out of 69 cases with deafness gene abnormal.32 cases(86.49%)had different degrees of hearing impairment.ConclusionGJB2 gene mutation was the highest carrying rate of deafness genes in this region,followed by SLC26 A4 gene,less mitochondrial 12 SrRNA gene mutations while GJB3 gene mutations was not detected.Hereditary deafness gene screening was a valid supplement for physical screening,the combination of both methods was helpful for early detection and intervention of deaf children.

关 键 词：婴幼儿 耳聋基因 听力筛查 自动听性脑干反应 

分 类 号：R764.05[医药卫生—耳鼻咽喉科]