宁波部分地区新生儿听力筛查联合耳聋基因检测结果分析  

Analysis of hearing screening combined with deafness gene testing of neonates in partial areas of Ningbo City

作　　者：潘澍青 潘小莉[1] 鲍幼维 李海波 PAN Shu-qing;PAN Xiao-li;BAO You-wei;LI Hai-bo(Ningbo Women and Children's Hospital,Zhejiang 315000,China)

机构地区：[1]宁波市妇女儿童医院,浙江315000

出　　处：《中国卫生检验杂志》2023年第1期71-76,共6页Chinese Journal of Health Laboratory Technology

基　　金：宁波市社会发展公益领域面上类项目(2019C50070);宁波市科技计划项目(202003N4223);宁波市科技计划项目(202002N3150);宁波市儿童健康与疾病临床医学研究中心(2019A21002)。

摘　　要：目的 通过对宁波部分地区新生儿听力筛查和耳聋基因检测结果分析,探讨听力筛查联合耳聋基因筛查的意义。方法 选取2019年11月—2021年11月在宁波市妇女儿童医院出生的8 382例新生儿作为研究对象。应用耳声发射和自动听性脑干反应进行听力筛查;应用荧光PCR熔解曲线法对耳聋基因进行检测;最后对荧光PCR熔解曲线法检测出的可疑基因采用Sanger测序法进行检测。结果 8 382例新生儿中,听力筛查未通过78例,占0.93%。耳聋基因检测共检出456例基因突变,检出率为5.44%,其中以GJB2基因c.235delC为主,其次为SLC26A4基因c.919-2A>G。新生儿听力筛查联合耳聋基因检测共检出523例阳性患儿,联合筛查检出率为6.24%。结论 新生儿听力筛查联合耳聋基因检测可提高耳聋阳性检出率。GJB2基因c.235delC和SLC26A4基因c.919-2A>G是宁波部分地区新生儿耳聋基因最常见的2个突变位点。Objective By analyzing the results of newborn hearing screening and deafness gene testing in partial areas of Ningbo City, this paper aims to explore the significance of newborn hearing screening combined with deafness gene testing. Methods A total of 8 382 neonates in Ningbo Women and Children’s Hospital from November 2019 to November 2021 were selected as the research objects. Otoacoustic emissions and automated auditory brainstem response were used for hearing screening. The deafness gene was detected by fluorescent PCR fusion curve method. Suspicious genes detected by fluorescence PCR were further detected by Sanger sequencing. Results Among the 8 382 neonates, 78 failed the hearing screening, accounting for 0.93%. A total of 456 deafness gene mutations were detected, and the detection rate of mutation was 5.44%. GJB2 gene c.235delC was dominant, followed by SLC26A4 gene c.919-2A>G. A total of 523 positive neonates were detected by hearing screening combined with deafness gene screening, and the detection rate of the two combined screening was 6.24%. Conclusion Newborn hearing screening combined with deafness genetic testing can improve the positive detection rate of deafness. GJB2 gene c.235delC and SLC26A4 gene c.919-2A>G were the most common mutation sites of newborn deafness gene in partial areas of Ningbo City.

关 键 词：新生儿 听力筛查 耳聋基因 Sanger测序 

分 类 号：R722.1[医药卫生—儿科]