摘要
目的通过分析大连地区新生儿听力及耳聋基因联合筛查结果,为防控遗传性耳聋提供参考依据。方法回顾性纳入2022年1月1日—5月30日在大连市妇女儿童医疗中心(集团)出生的新生儿842例,使用自动脑干诱发电位方法进行听力筛查,同时采集新生儿脐血,使用高通量测序法检测常见遗传性耳聋4个基因[GJB2、GJB3、SLC26A4(PDS)、药物性耳聋相关线粒体基因(MT-RNRI)(12SrRNA)]20个突变位点。结果842例新生儿中通过听力筛查840例(99.8%);通过听力筛查而未通过耳聋基因筛查36例(4.3%);两者都通过804例(95.5%);两者都未通过2例(0.24%)。检出耳聋基因突变38例,总携带率为4.51%(38/842),其中GJB2、GJB3、SLC26A4(PDS)、MT-RNRI(12SrRNA)杂合突变携带率分别为1.90%、0.24%、1.30%和0.95%,GJB2/GJB3复合杂合突变携带率为0.12%。结论新生儿听力及耳聋基因联合筛查可以降低听力筛查漏检率,大连地区新生儿耳聋基因携带率为4.51%,以GJB2携带率最高,SLC26A4(PDS)携带率次之。
Objective To analyze the results of the joint screening of newborn hearing and deafness genes in Dalian to provide a reference for the prevention and control of hereditary deafness.Methods Eight hundred and forty-two neonates born in Dalian Women and Children′s Medical Group from January 1,2022 to May 30,2022 were screened retrospectively,using AABR(automatic brainstem evoked potential).And 20 mutation sites of common genetic deafness 4 genes,including GJB2,GJB3,SLC26A4(PDS)and mitochondrial genes associated with drug-induced deafness(MT-RNRI)(12SrRNA),were detected by high-throughput sequencing.Results Among the 842 newborns,840 passed hearing screening(99.8%);36 cases(4.3%)passed the hearing screening but not the hearing loss gene screening;804 cases passed through the both screening(95.5%);2 cases(0.24%)failed in the both screening.38 cases of deafness gene mutations were detected,with a total carrying rate of 4.51%(38/842).Among them,the carrying rates of heterozygous mutations in GJB2,GJB3,SLC26A4(PDS),MT-RNRI(12SrRNA)were 1.90%,0.24%,1.30%,and 0.95%,respectively.The carrying rates of GJB2/GJB3 composite heterozygous mutations were 0.12%.Conclusions The combined screening of neonatal hearing and deafness genes can reduce the missed rate of hearing screening.The carrier rate of neonatal deafness gene in Dalian is 4.51%,with the highest GJB 2 carrier rate,followed by SLC26A4(PDS)carrier rate.
作者
杨惠云
李士军
张静
朱文秀
刘小雪
石铭
Yang Huiyun;Li Shijun;Zhang Jing;Zhu Wenxiu;Liu Xiaoxue;Shi Ming(School of Laboratory Medicine,Dalian Medical University,Dalian 116044,China;Laboratory of the First Affiliated Hospital of Dalian Medical University Dalian 116011,China;Laboratory Department of Dalian Municipal Center Hospital,Dalian 116033,China;Department of Laboratory,Dalian Women and Children's Medical Group,Dalian 116037,China)
出处
《中国医师进修杂志》
2023年第5期461-465,共5页
Chinese Journal of Postgraduates of Medicine
基金
大连市妇女儿童医疗中心(集团)博士启动基金项目([2022]156)。
关键词
耳聋
听力检查
基因联合筛查
联合探针锚定聚合测序法
杂合突变
Deafness
Hearing tests
Combined hearing and gene screening
Combined probe anchoring polymerization sequencing
Heterozygous mutation
