摘要：Objective In this study,we employed newborn hearing screening and gene screening concurrently to explore the hearing loss associated with mutations in the city of Jinan.Methods A total of 3 288 newborns born between March 2013 and December 2013 in Jinan Maternity and Child Care Hospital received hearing concurrent genetic screening.Transiently evoked otoacoustic emissions (TEOAE) was used in rooming-in newborns,while TEOAE and auto auditory brainstem response (AABR) was used in infants in neonatal intensive care unit (NICU).Two drops of heel blood were harvested with filter paper.Nine mutations [GJB2(235delC,35delG,299delAT,176del16),SLC26A4(IVS7-2A ＞ G,2168 A ＞ G),GJB3 (538 C ＞ T),12SrRNA (1555 A ＞ G,1494C ＞ T)] of 4 frequent genes associated with Chinese hearing loss were determined by gene chip in these dried blood samples.Results Among 3 288 newborns,363 cases failed to pass the hearing screening,and 36 cases of these 363 newborns carried mutations,with a carrier rate of 9.91％.2 925 cases passed the hearing screening,of which 113 carried mutations,with a carrier rate of 3.86％.There was a significantly statistic difference (x2 =8.67,P =0.000) in carrier rate between two groups.149(4.53％) infants were detected to carry at least one mutation allele,among which 113 cases passed the hearing screening and 36 cases failed.Seven cases were diagnosed to have hearing loss.Homozygous GJB2 mutation was detected in 2 cases,compound heterozygous GJB2 mutation was detected in 1 case,and heterozygous GJB2 mutation in 88 cases.There were 91 cases carried GJB2 mutations totally,with a total rate of 2.76％.There were 40 cases were detected to carry heterozygous SLC26A4 mutation,with a carrier rate of 1.22％.Nine cases had heterozygous GJB3 mutation,with a carrier rate of 0.27％.Six cases had homogeneous mitochondria 12SrRNA mutation,and 1 had heterogeneous mutations.There were 7 cases totally,with a total rate of 0.21％.142 infants with gene mutation should be follow-up.Conclusion A follow-up system in infants,passed hearing screening,with single heterozygous mutation and mutations associated with drug-induced hearing loss,can help to detect infants with hearing defects early and effectively prevent late-onset hearing impairment.%目的 通过对济南市部分新生儿同步进行听力和耳聋基因联合筛查,了解新生儿耳聋基因的携带情况,探讨听力和基因联合筛查的意义.方法 2013年3月至12月在济南市妇幼保健院出生的3 288名新生儿接受了听力和耳聋基因同步筛查.初筛时,母婴同室的新生儿采用瞬态诱发耳声发射(TEOAE)进行听力筛查;新生儿重症监护室(NICU)的新生儿则采用TEOAE和自动听性脑干反应(auto auditory brainstem response,AABR)筛查.采集新生儿的足跟血2滴,应用基因芯片技术对中国人常见4个耳聋基因共9个突变位点[GJB2(235delC、35delG、299delAT、176del16),SLC26A4(IVS7-2A＞G、2168A＞ G),GJB3 (538C ＞T),12SrRNA(1555A＞G、1494C＞ T)]进行检测.对于听力筛查未通过或者耳聋基因携带者均在3个月内进行常规听力学诊断.结果 3 288例新生儿中有363例未通过听力初筛,其中携带有耳聋基因突变者36例(9.91％);2 925例通过听力筛查的新生儿中,携带耳聋基因突变者113例(3.86％);听力筛查通过组与未通过组的耳聋基因携带率比较,差异有统计学意义(x2=8.67,P =0.000).总体耳聋基因突变携带率为4.53％(149/3 288),其中GJB2纯合突变2例,复合杂合1例,杂合88例,共91例,携带率为2.76％;SLC26A4杂合突变40例,携带率为1.22％;GJB3杂合突变9例,携带率为0.27％;线粒体12SrRNA均质突变6例,异质性突变1例,共7例,携带率为0.21％;GJB2合并SLC26A4突变共2例,携带率为0.06％.142例耳聋基因杂合携带者进行听力随访.3个月内最终确诊听力损失7例.结论 新生儿听力筛查与耳聋基因筛查相结合,两者相互补充对照,有可能尽早发现听力损失患儿,尤其是迟发性听力损失患儿.
