3328例新生儿听力与耳聋基因联合筛查分析  

Combined Hearing and Deafness Genes Screening in 3,328 Newborns

作　　者：陈敏娟 查建梅 李欣欣 贾亮 张冠斌 CHEN Minjuan;ZHA Jianmei;LI Xinxin;JIA Liang;ZHANG Guanbin(Zhangjiagang Maternal and Child Health Center,Zhangjiagang 215600,China;不详)

机构地区：[1]张家港市妇幼保健所,张家港215600 [2]北京博奥晶典生物技术有限公司 [3]成都博奥独立医学实验室 [4]福建医科大学医学检验系

出　　处：《中华耳科学杂志》2024年第6期917-922,共6页Chinese Journal of Otology

摘　　要：目的应用二十三项遗传性耳聋基因突变微流控诊断芯片技术联合听力筛查分析张家港市新生儿耳聋基因携带情况以及基因突变者的听力情况,为张家港市出生缺陷防治政策提供科学依据。方法采集张家港市助产机构分娩的新生儿足跟血,采用微流控诊断芯片法对GJB2、GJB3、SLC26A4、线粒体12S rRNA基因23个突变热点进行筛查,联合听力筛查进而分析新生儿耳聋基因携带及听力情况。结果2022年5月至2022年12月,张家港市共采集3328例新生儿足跟血,耳聋基因阳性携带者465例,阳性突变携带率13.97%,GJB2基因阳性检出率最高,为11.81%,SLC26A4基因阳性检出率1.44%,线粒体12S rRNA基因阳性检出率0.24%,多基因突变携带率0.27%。各基因型中,GJB2基因c.109 G>A阳性检出率最高,为9.74%,其次为GJB2基因c.235 del C阳性检出率2.04%。通过听力学诊断为听力损失12例,GJB2基因c.109 G>A纯合突变5例、GJB2基因c.109 G>A复合杂合突变3例、GJB2基因c.235 del C纯合突变1例、GJB2基因c.235 del C复合杂合突变1例、GJB2基因c.235 del C杂合突变2例。结论张家港市新生儿GJB2基因突变携带率最高,其次为SLC26A4基因突变携带率。GJB2基因c.109G>A突变频率最高,其次为c.235delC突变频率。各基因型突变携带率在新生儿中不平衡,在今后的出生缺陷防治工作中应有侧重点,对高危人群应重点关注其听力情况,有效做到早发现、早诊断、早干预。Objective To report results of combined hearing and gene screening using microfluidic chips targeting 23 deafness mutations in the newborn population in Zhangjiagang,as an effort in providing scientific foundation for prevention and intervention of birth defects.Methods Dry blood specimens were collected from infants born in Zhangjiagang to be screened for twenty-three mutation hotspots on four common deafness-associated genes,i.e.GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA using microfluidic chips,combined with hearing screening to determine hearing status.Results A total of 3,328 neonates born between May 2022 and December 2022 were screened.Mutation hotspots were detected in 465 cases(13.97%,involving the GJB2 gene in 11.81%,the SLC26A4 gene in 1.44%,Mt12S rRNA variants in 0.24%and multiple genes in 0.27%).c.109 G>A was the most common mutation involving the GJB2 gene(9.74%),followed by c.235 del C(2.04%).Hearing loss was confirmed in 12 cases,including 5 cases with GJB2 c.109 G>A homozygous mutation,3 cases with GJB2 c.109 G>A compound heterozygous mutation,1 case with GJB2 c.235 del C homozygous mutation,1 case with GJB2 c.235 del C compound heterozygous mutation,and 2 cases with GJB2 c.235 del C heterozygous mutation.Conclusion GJB2 and SLC26A4 are the most common deafnessassociated genes in Zhangjiagang,and GJB2 c.109 G>A is more common than c.235 del C among mutant alleles.The rate of mutations varies among deafness-associated genes hotspots in newborns.Future work should focus on hearing status in high-risk populations with effective screening to achieve early detection,diagnosis and intervention for improved prevention and management of birth defects.

关 键 词：微流控芯片 新生儿筛查 听力损失 突变分析 

分 类 号：R764.43[医药卫生—耳鼻咽喉科] R440[医药卫生—临床医学]