咸阳地区27660例新生儿听力及耳聋基因联合筛查结果分析

Analysis of the results of the combined hearing and deafness gene screening of 27660 newborns in Xianyang

目的了解咸阳地区4个常见耳聋易感基因的携带率和突变类型,对该地区制订耳聋疾病防治方案提供理论依据和数据支持。方法选取2019年1月—2023年2月在陕西中医药大学第二附属医院出生的27660例新生儿进行听力与耳聋易感基因联合筛查。听力筛查包括耳声发射和自动听性脑干反应。采用荧光聚合酶链反应(PCR)熔解曲线法对GJB2、GJB3、SLC26A4及线粒体MT-RNR1(mtDNA)4个常见耳聋易感基因15个突变位点进行检测分析,同时采用基因测序技术对阳性样本进行验证。结果27660例新生儿中,检出1183例耳聋基因突变携带者,携带率为4.27%,其中包括GJB2基因突变570例(2.06%),SLC26A4基因突变528例(1.91%),GJB3基因突变16例(0.06%),线粒体MT-RNR1基因突变50例(0.18%),复合杂合突变15例(0.05%),纯合突变4例(0.01%);检出3例听力障碍患儿,包括2例GJB2 c.235delC纯合突变,1例SLC26A4 c.919-2 A>G纯合突变。结论在该地区新生儿中,耳聋基因突变携带率偏高,主要以GJB2和SLC26A4基因突变为主。新生儿耳聋基因的筛查,可针对性地给耳聋基因缺陷家庭提供有价值的建议,从而降低耳聋发生率。

Objective To determine the prevalence and types of mutations in deafness-related genes in Xianyang,providing a theoretical basis and data support for clinical counselling on deafness prevention and treatment.Methods A total of 27660 newborns born in our hospital between January 2019 and February 2023 were screened for hearing and deafness-related genes using otoacoustic emission,automated auditory brainstem response,polymerase chain reaction(PCR)for detecting 15 mutation sites of the common deafness genes(GJB2,GJB3,SLC26A4 and MT-RNR1),as well as validation through Sanger sequencing for positive samples.Results Among the 27660 newborns,1183(4.27%)were carriers of deafness gene mutations,including 570(2.06%)of GJB2 gene mutations,528(1.91%)of SLC26A4 gene mutations,and 16(0.06%)of GJB3 gene mutations,and MT-RNR1 gene mutation found in 50 cases(0.18%).There were also compound heterozygous mutation(15 cases,0.05%)and homozygous mutation(4 cases,0.01%).Three cases of hearing loss were detected,including two cases with GJB2 c.235delC homozygous mutation and one case with SLC26A4 c.919-2 A>G homozygous mutation.Conclusion The high prevalence rate of sensorineural deafness among the newborns in the area is mainly attribute to GJB2 and SLC26A4 gene mutations.Screening for these genetic defects can provide valuable advice to families affected by hearing loss gene,thereby reducing the incidence of hearing loss.