深圳市光明区24564例新生儿耳聋基因筛查结果分析

Screening Analysis of Deafness Gene Mutations in 24564 Newborns in Guangming District,Shenzhen

目的对深圳市光明区所属3家医院新生儿耳聋基因检测结果进行分析,了解深圳光明区新生儿耳聋基因的致病突变分布情况,为不同致病原因的耳聋早期干预提供指导。方法针对深圳市光明区2019年4月至2021年12月的24564例新生儿,运用飞行时间质谱技术检测主要耳聋致病基因GJB2、GJB3、SLC26A4、12S rDNA的20个致病突变位点,分析本地区新生儿遗传性耳聋基因突变位点分布情况。结果24564例新生儿中,筛查出携带致病耳聋基因947例,总体携带率3.86%。其中GJB2基因482例,未检出167del T突变,携带率1.965%;GJB3基因62例,携带率0.252%;SLC26A4基因340例,携带率1.386%;线粒体12S rRNA基因63例,携带率0.256%。结论深圳市光明区新生儿遗传性耳聋基因突变率较全国平均水平低,GJB2基因和SLC26A4基因是最常见的基因突变类型,与2017~2018年筛查数据相比,主要突变位点携带率有所下降,提示早发现、早干预可减少耳聋的发生。

Objective To determine the distribution of pathogenic mutations of neonatal deafness genes in Guangming District,Shenzhen,and provide guidance for the early intervention of different causes of deafness,through analysis of the screening data of common mutations of deafness genes in newborns collected from three hospitals in the region.Methods A total of 24,564 newborns from April 2019 to December 2021 were selected in Guangming District,Shenzhen,for testing of 20 mutation sites in major deafness genes GJB2,GJB3,SLC26A4,12S rRNA by using MALDI-TOF-MS,to find out the distribution of pathogenic mutations of neonatal deafness genes in the region.Results:Among 24,564 newborns,947 cases(3.86%)were diagnosed with mutations.GJB2 mutations were pertinent to 482 cases(1.965%),without 167del T mutation detected.GJB3 mutations were pertinent to 62 cases(0.252%).SLC26A4 mutations were pertinent to 340 cases(1.386%).12S rRNA mutations were pertinent to 63 cases(0.256%).Conclusion The mutation rate of newborn genetic deafness genes is lower than the national average level and the main gene mutations are GJB2 and SLC26A4 in Guangming District,Shenzhen.Early detection and intervention suggest to reduce the occurrence of deafness.