新生儿脐带血遗传性耳聋基因筛查在迟发性耳聋中的应用价值  

Application value of genetic deafness gene screening of neonatal cord blood in delayed deafness

作　　者：杨善浦 沈仁[1] 董虹 施春晖 刘红艳[1] 李素琴 YANG Shanpu;SHEN Ren;DONG Hong;SHI Chunhui;LIU Hongyan;LI Suqin(the Yuhuan Branch of the First Affiliated Hospital with Wenzhou Medical University/the People's Hospital of Yuhuan,Yuhuan 317600;Yuhuan Hospital of TCM,Yuhuan 317600,China)

机构地区：[1]温州医科大学附属第一医院玉环分院/玉环市人民医院,浙江玉环317600 [2]玉环市中医院,浙江玉环317600

出　　处：《临床医学研究与实践》2022年第27期1-4,10,共5页Clinical Research and Practice

基　　金：2020年浙江省医药卫生科技计划项目(No.2020KY1063)。

摘　　要：目的探析新生儿遗传性耳聋基因筛查对迟发性耳聋早期识别和干预的临床意义。方法在新生儿家长知情同意原则下,抽取新生儿脐带血,采用聚合酶链式反应(PCR)结合导流杂交法检测中国人常见的4个耳聋易感基因[GJB2、SLC26A4、线粒体DNA(mtDNA)和GJB3]的13个突变位点,并对筛查阳性个体进行听力学监测和随访评估。结果570例新生儿经遗传性耳聋基因筛查共检出27例易感基因携带者,基因突变携带率为4.737%。其中GJB2基因突变携带率为2.632%(15/570),以235 del C杂合突变为主;SLC26A4基因突变携带率为1.579%(9/570),以IVS7-2 A>G杂合突变为主;mtDNA 12S rRNA 1555 A>G均质性突变3例,基因突变携带率为0.526%;未检出GJB3538 C>T基因突变。27例基因突变携带者未通过听力复筛的仅为1例,随访中经听觉脑干诱发电位(ABR)检测发现轻度听力损失3例。结论对新生儿进行遗传性耳聋基因热点突变位点的筛查可高效检出常见致聋基因携带者,以此早期识别并对具有此遗传易感性风险的新生儿和幼儿提出早期预警及干预性指导,对延缓听力损失和预防迟发性耳聋的发生有着重要的临床意义。Objective To explore the clinical significance of genetic deafness gene screening of newborns in early recognition and intervention of delayed deafness.Methods Under the principle of informed consent of the parents of newborns,neonatal cord blood was extracted,and 13 mutation sites of 4 common deafness susceptibility genes[GJB2,SLC26A4,mitochondrial DNA(mtDNA)and GJB3]in Chinese were detected by polymerase chain reaction(PCR)combined with diversion hybridization method,and audiological monitoring and follow-up evaluation were carried out for the screened positive individuals.Results A total of 27 susceptibility gene carriers were detected in 570 newborns by genetic deafness gene screening,and the gene mutation carrying rate was 4.737%.Among them,the mutation carrying rate of GJB2 gene was 2.632%(15/570),mainly 235 del C heterozygous mutation;the mutation carrying rate of SLC26A4 gene was 1.579%(9/570),and mainly IVS7-2 A>G heterozygous mutation;there were 3 cases of mtDNA 12S rRNA 1555 A>G homogeneous mutation,and the gene mutation carrying rate was 0.526%;no GJB3538 C>T gene mutation was detected.Only one of the 27 gene mutation carriers failed to pass the hearing re-screening,and 3 cases were found to have mild hearing loss by auditory brainstem response(ABR)during follow-up.Conclusion Screening the hot spot mutation sites of genetic deafness gene in newborns can efficiently detect the carriers of common deafness genes,so as to early identify and provide early warning and intervention guidance for newborns and young children with this genetic susceptibility risk,which has important clinical significance for delaying hearing loss and preventing the occurrence of delayed deafness.

关 键 词：遗传性耳聋基因 听力筛查 迟发性耳聋 新生儿 

分 类 号：R722.19[医药卫生—儿科]