青岛地区孕前孕早期妇女及新生儿耳聋基因筛查结果分析  

Analysis of the results of genetic screening for deafness in pre-pregnancy and early pregnancy women and newborns in Qingdao area

作　　者：姜晓静 梁琳 JIANG Xiao-jing;LIANG Lin(Qingdao West Coast New Area Maternal and Child Health and Family Planning Service Center,Qingdao,Shandong 266555,China)

机构地区：[1]青岛西海岸新区妇幼保健计划生育服务中心,山东青岛266555

出　　处：《中国妇幼保健》2025年第3期410-414,共5页Maternal and Child Health Care of China

摘　　要：目的通过耳聋基因筛查,分析山东省青岛地区孕前、孕早期妇女及新生儿遗传性耳聋基因的突变类型和频率,探讨耳聋基因筛查的临床意义。方法选取2022年10月—2023年10月在青岛西海岸新区妇幼保健计划生育服务中心接受检查的3117例孕前、孕早期妇女作为研究对象。通过核酸质谱法检测4个耳聋基因(GJB2、GJB3、SLC26A4及MT-RNR1)的21个变异位点,并建议携带耳聋基因突变位点妇女的配偶进行该突变基因的测序。随访孕妇的妊娠结局和新生儿的耳聋基因筛查结果。结果3117例孕前及孕早期妇女中有224例妇女是遗传性耳聋基因突变携带者,携带率为7.19%。GJB2、SLC26A4、MT-RNR1及GJB3的基因突变携带率依次为46.43%(104/224)、36.16%(81/224)、9.82%(22/224)及7.59%(17/224)。随访到的2170例新生儿中有127例(5.85%)新生儿耳聋基因筛查结果异常,GJB2、SLC26A4、MT-RNR1及GJB3的基因突变携带率依次为41.73%(53/127)、37.01%(47/127)、14.17%(18/127)及7.09%(9/127)。72对孕妇-新生儿同位点突变,频率由高到低依次为c.235delC(29.17%,21/72)、m.1095T>C(20.83%,15/72)、c.919_2A>G(19.44%,14/72)。结论青岛地区孕前、孕早期及新生儿耳聋基因突变携带主要以GJB2和SLC26A4基因突变为主,还发现配偶中GJB2基因的c.109G>A位点突变率较高。依据耳聋基因检测情况进行针对性干预指导对于降低本地区耳聋出生缺陷工作具有重要作用。Objective To analyze the mutation types and frequencies of hereditary deafness genes in women pre-pregnancy and in early pregnancy,as well as in newborns,in the Qingdao area of Shandong Province through deafness gene screening,and to explore the clinical significance of deafness gene screening.Methods A total of 3117 women pre-pregnancy and in early pregnancy who received examinations at Qingdao West Coast New Area Maternal and Child Health and Family Planning Service Center from October 2022 to October 2023 were selected as study subjects.Twenty-one variant sites in four deafness-related genes(GJB2,GJB3,SLC26A4,and MT-RNR1)were detected using nucleic acid mass spectrometry.It was recommended that the spouses of women carrying deafness gene mutation sites undergo sequencing for the same mutation gene.Follow-up was conducted on the pregnancy outcomes of the women and the results of deafness gene in their newborns.Results Among the 3117 women before and in early pregnancy,224 were carriers of hereditary deafness gene mutations,with a carrier rate of 7.19%.The carrier proportion for GJB2,SLC26A4,MT-RNR1,and GJB3 were 46.43%(104/224),36.16%(81/224),9.82%(22/224),and 7.59%(17/224),respectively.Among the 2,170 followed-up newborns,127 had abnormal results in deafness gene screening,with a rate of 5.85%.The carrier proportion for GJB2,SLC26A4,MT-RNR1,and GJB3 were 41.73%(53/127),37.01%(47/127),14.17%(18/127),and 7.09%(9/127),respectively.In 72 pairs of mother-newborns with the same site mutations,the frequencies from highest to lowest were c.235delC(29.17%,21/72),m.1095T>C(20.83%,15/72),and c.919_2A>G(19.44%,14/72).Conclusion In the Qingdao area,the primary mutations carried by pregnant women and newborns are mainly in the GJB2 and SLC26A4 genes.Additionally,a higher mutation rate of the c.109G>A site in the GJB2 gene was found among spouses.Targeted intervention guidance based on the results of deafness gene testing is of great importance for reducing congenital deafness in this region.

关 键 词：基因筛查 遗传性耳聋基因 位点突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]