苏州市高新区12211名新生儿常见遗传性耳聋基因突变特点分析

Characterization of four common deafness gene mutations among 12221 newborns delivered at four hospitals in a district of Suzhou city,2018-2022

目的深入探讨江苏省苏州市高新区新生儿常见遗传性耳聋基因突变特征,以期为预防和治疗这类疾病提供有效的参考依据。方法采集2018年7月—2022年7月在苏州市高新区4家综合医院出生的12211名新生儿微量血液样本,采用新生儿耳聋基因检测试剂盒对4个耳聋基因GJB2(35delG、176_191del16、235delC和299_300delAT)、GJB3(538C>T和547G>A)、SLC26A4(281C>T、589G>A、IVS7-2A>G、1174A>T、1226G>A、1229C>T、IVS15+5G>A、1975G>C、2027T>A、2162C>T和2168A>G)、线粒体12SrRNA(1095T>C、1494C>T和1555A>G)共20个突变位点进行检测,分析基因突变检出率的性别和年份差异。结果12211名新生儿中,携带4种常见耳聋基因的共680例,占比5.57%。其中GJB2占2.80%,SLC26A4占1.77%,线粒体12SrRNA占0.67%,GJB3占0.43%;20个位点中,GJB2基因的235delC杂合突变占2.05%,检出率最高,其次是SLC26A4基因的IVS7-2A>G杂合突变占1.16%;不同年份新生儿之间的基因突变总阳性检出率、基因突变构成比差异均无统计学意义(均P>0.05),但线粒体12SrRNA基因各年份之间检出率差异有统计学意义(P<0.01);不同性别新生儿之间的基因突变总阳性检出率、基因突变构成比差异均无统计学意义(均P>0.05),但GJB2基因男女性检出率差异有统计学意义(P=0.04)。结论苏州市高新区新生儿中,GJB2基因携带者居多,GJB2235delC突变最高,SLC26A4 IVS7-2A>G突变次之;基因总阳性检出率在性别、年份之间并无显著差别,但不同基因型阳性检出率在性别、年份之间具有各自不同的特征,可以针对这些特点采取相应的措施。

Objective To investigate the characteristics of common deafness gene mutations in newborns in a district of Suzhou municipality,Jiangsu province for the prevention and treatment of hereditary hearing loss.Methods Micro blood samples were collected from 12211 newborns delivered at four general hospitals in Suzhou High-Tech Zone from July 2018 through July 2022 for detections of 20 mutant loci of four common deafness genes GJB2(35delG,176_191del16,235delC and 299_300delAT),GJB3(538C>T and 547G>A),SLC26A4(281C>T,589G>A,IVS7-2A>G,1174A>G,1226G>A,1229C>T,IVS15+5G>A,1975G>C,2027T>A,2162C>T and 2168A>G)and mitochondrial 12SrRNA(1095T>C,1494C>T and 1555A>G)with congenital deafness gene detection kit.Gender and yearly differences in detection rates of the deafness gene mutations among the newborns were analyzed.Results Among 12211 newborns,680(5.57%)were found to carry the 4 common deafness genes,with the detection rates of 2.80%for GJB2,1.77%for SLC26A4,0.67%for mitochondrial 12SrRNA,and 0.43%for GJB3,respectively.Of the20 mutant loci detected,the detection rate was the highest(2.05%)for heterozygote 235delC mutation in GJB2 gene,followed by 1.16%for heterozygote IVS7-2A>G mutation in SLC26A4 gene.There were no significant yearly and gender differences in the total detection rate and the composition ratio of gene mutations among the neonates(all P>0.05),but there was a significant yearly difference in the detection rate of mitochondrial 12SrRNA gene(P<0.01)and a significant gender difference in the detection rate of GJB2 gene(P=0.04).Conclusion Among newborns in Suzhou High-Tech Zone,the dominantly detected deafness gene mutations were GJB2235delC and SLC26A4 IVS7-2A>G mutation.The total detection rate of common deafness genes did not significantly differ between male and female newborns and in different years but there were gender and yearly differences in gene-specific detection rate.The results should be considered in genetic screening for neonatal deafness.