承德市25,205例新生儿聋病易感基因分子流行病学调查分析  

Molecular Epidemiological Investigation on Common Deafness Genes among 25,205 Newborns in Chengde City

作　　者：薛秀丽 翼楠 张娇[4] 李春美 程云 赵艳红 王大勇[4] 薛涵[3] XUE Xiuli;JI Nan;ZHANG Jiao;Li Chunmei;CHENG Yun;ZHAO Yanhong;WANG Dayong;XUE Han(Chengde Maternity and Child Health Care Hospital Children's Hospital,Chengde,Hebei 067000,China;Longhua Town Hospital,Chengde,Hebei 067000,China;Chengde Central Hospital,Chengde,Hebei 067000,China;Senior Department of Otolaryngology,Head and Neck Surgery,Chinese PLA Institute of Otolaryngology,Chinese PLA General Hospital,Beijing 100853,China)

机构地区：[1]承德市妇幼保健院儿童医院,承德067000 [2]隆化镇医院,承德067000 [3]承德市中心医院,承德067000 [4]解放军总医院耳鼻咽喉头颈外科医学部解放军耳鼻咽喉研究所,北京100853

出　　处：《中华耳科学杂志》2022年第2期181-187,共7页Chinese Journal of Otology

摘　　要：目的首次针对承德市新生儿聋病易感基因携带情况进行分子流行病学调查分析,为承德地区耳聋出生缺陷防控干预提出建议和数据参考。方法对全市11个区(市)县的25,205例新生儿采用耳声发射法或自动听性脑干诱发电位法进行听力筛查,同时采集足跟血,应用联合探针锚定聚合测序法进行24个基因208个位点常见耳聋基因筛查,对耳聋基因变异频谱进行综合分析。结果2019年4月-2021年10月间,承德市共25,205例新生儿进行了听力与基因联合筛查,其中38例未通过联合筛查,133例基因筛查通过而听力筛查未通过,2,649例听力筛查通过而基因筛查未通过。聋病易感基因异常携带率10.66%,其中GJB2、SLC26A4、线粒体MT-RNR1和GJB3基因变异携带率较高,分别为7.19%、2.23%、0.98%和0.38%;其次为TMPRSS3、USH2A、OTOF、MARVELD2、MYO15A、MYO7A、DFNA5、LRTOMT,检出率为0.21%,占阳性个体的1.97%。结论本研究首次在承德地区开展新生儿听力与基因联合筛查,发现承德市新生儿聋病易感基因携带率为10.66%,其中GJB2基因的c.109G>A位点检出率最高,约4.47%,对于携带c.109G>A位点变异的新生儿临床表型迟发的情况,应提供持续的遗传咨询和定期随访,进行提早预防和干预至关重要。Objective To report the first molecular epidemiology study of common deafness genes in the newborn population in Chengde as the basis for future directions in the prevention and control of deafness at birth.Methods Hearing screening(OAE or AABR)was performed in 25,205 newborns across 11 districts and counties in Chengde,and dry blood samples were collected to screen for 208 variation sites on 24 common deafness genes by combinatorial probe-anchor synthesis sequencing.The variation spectrum of deafness genes was comprehensively analyzed.Results From April 2019 to October 2021,a total of 25,205 newborns in Chengde received hearing and genetic screening,with38 failing both,133 failing hearing screening only,and 2,649 failing genetic screening only.The positive rate of detecting suspected deafness gene mutations was 10.66%,with the carrying rate for mutated GJB2,SLC26A4,mitochondrial MT-RNR1 and GJB3 genes at 7.19%,2.23%,0.98%and 0.38%,respectively.The rate of detecting mutations of the TMPRSS3,USH2A,OTOF,MARVELD2,MYO15A,MYO7A,DFNA5 or LRTOMT genes was 0.21%,accounting for 1.97%of positive tests.Conclusion The rate of carrying a deafness genes mutation in Chengde is 10.66%,with the GJB2c.109G>A variation being the most common variation(approximately 4.47%).Due to delayed occurrence of clinical phenotypes in newborns with the GJB2 c.109G>A variation,continuous genetic counseling and regular follow-up should be provided to carriers as a measure of prevention and early intervention.

关 键 词：承德 聋病易感基因 基因筛查 听力筛查 

分 类 号：R764[医药卫生—耳鼻咽喉科]