新生儿OAE、ABR听力筛查与耳聋基因筛查结果相关性及联合筛查效果分析  

Analysis of the correlation between neonatal OAE and ABR hearing screening and deafness gene screening and the effect of combined screening

作　　者：吕倩 金学坤 崔敬红 朱苾丹 LYU Qian;JIN Xuekun;CUI Jinghong;ZHU Beidan(Department of Otolaryngology,Tongzhou Maternal and Child Health Hospital,Beijing 101100,China)

机构地区：[1]北京市通州区妇幼保健院耳鼻喉科,北京101100

出　　处：《中国优生与遗传杂志》2024年第9期1923-1927,共5页Chinese Journal of Birth Health & Heredity

基　　金：2020年度北京市中医药科技发展资金项目(QN-2020-10)。

摘　　要：目的探讨新生儿耳聋OAE、ABR听力筛查结果差异及与SLC26A4、GJB2、GJB3、12SrRNA基因突变相关性,并分析联合筛查效能。方法研究对象选取北京市通州区妇幼保健院耳鼻喉科2019年6月至2023年6月进行听力筛查新生儿合计24835例,统计分析新生儿SLC26A4(位点:IVS 7-2 A>G、c.2168 A>G、c.1975 G>C、c.1174 A>T、c.1226 G>A、c.2027 T>A、IVS15+5 G>A、c.1229 C>T)、GJB2(位点:c.235delC、c.299-300del AT、c.176-191del16、c.35delG)、GJB3(位点:c.538 C>T)、12S rRNA(位点:m.1555 A>G、m.1494 C>T)基因检测及OAE、ABR听力筛查结果,并比较不同OAE、ABR听力筛查结果新生儿SLC26A4、GJB2、GJB3、12S rRNA基因突变率,分析SLC26A4、GJB2、GJB3、12S rRNA基因突变与新生儿OAE、ABR听力筛查结果相关性及OAE、ABR听力筛查结果差异对应突变基因,采用Logistic多因素联合模型,分析OAE、ABR听力筛查联合耳聋基因筛查对新生儿听力障碍预测结果。结果本研究合计纳入24835例新生儿就进行研究,其中OAE最终筛查未通过62例,未通过率0.25%;ABR最终筛查未通过69例,未通过率14.81%;OAE、ABR听力筛查未通过新生儿SLC26A4、GJB2、GJB3、12S rRNA基因突变率显著高于OAE、ABR听力筛查通过新生儿(P<0.05);OAE未通过新生儿GJB2突变检出率高于ABR未通过者,SLC26A4突变检出率低于ABR未通过者(P<0.05),GJB3、12S rRNA突变检出率差异无统计学意义(P>0.05);SLC26A4、GJB2、GJB3、12S rRNA基因突变与新生儿OAE、ABR听力筛查结果未通过呈正相关(P<0.05)。Logistic多因素回归分析显示,OAE、ABR及SLC26A4、GJB2、GJB3、12S rRNA基因突变均是新生儿耳聋独立危险因素(P<0.05),根据Logistic多因素回归结果建立联合模型预测效能高于单独使用基因筛查或OAE、ABR筛查。结论OAE、ABR听力筛查未通过新生儿中,SLC26A4、GJB2基因突变发生率较高,以GJB2为主,ABR未通过者则主要携带SLC26A4基因,SLC26A4、GJB2、GJB3、12S rRNA基因突变与新生儿OAE�Objective To investigate the difference of neonatal hearing screening results of OAE and ABR and their correlation with SLC26A4,GJB2,GJB3 and 12S rRNA gene mutations,and to analyze the efficacy of combined screening.Methods A total of 24835 newborns were selected from the Department of Otolaryngology,Tongzhou Maternal and Child Health Hospital of Beijing from June 2019 to June 2023 for hearing screening,and neonatal SLC26A4(site:IVS 7-2 A>G,c.2168 A>G,c.1975 G>C,c.1174 A>T,c.1226 G>A,c.2027 T>A,IVS15+5G>A,c.1229 C>T),GJB2(site:c.235delC,c.299-300DEL AT,c.176-191DEL16,c.35DELG),GJB3(site:c.538 C>T),12S rRNA(site:m.1555 A>G,m.1494 C>T)gene detection and OAE and ABR hearing screening results,and compared the neonatal SLC26A4,GJB2,GJB3,12S rRNA gene mutation rate of different OAE and ABR hearing screening results.The correlation between SLC26A4,GJB2,GJB3,12S rRNA gene mutations and neonatal OAE and ABR hearing screening results were analyzed,and the difference of OAE and ABR hearing screening results corresponds to mutated genes.A Logistic combination model was used to analyze the prediction results of OAE and ABR hearing screening combined with hearing loss gene screening for neonatal hearing impairment.Results A total of 24835 neonates were included in this study.Among them,62 cases(the failure rate was 0.25%)failed the final screening of OAE.The final ABR screening failed 69 cases,the failure rate was 14.81%.The gene mutation rates of SLC26A4,GJB2,GJB3 and 12S rRNA in neonates who failed OAE and ABR hearing screening were significantly higher than those who passed OAE and ABR hearing screening(P<0.05).The detection rate of GJB2 mutation in neonates without OAE passing was higher than that of those without ABR passing,and the detection rate of SLC26A4 mutation was lower than that of those without ABR passing(P<0.05).There was no significant difference in the detection rates of GJB3 and 12S rRNA mutation(P>0.05).SLC26A4,GJB2,GJB3 and 12S rRNA gene mutations were positively correlated with the failure of neonatal OAE

关 键 词：SLC26A4 GJB2 GJB3 12S rRNA 听力筛查 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]