目的通过对初生婴儿聋病易感基因的普遍筛查,了解其分子流行病学特点,为完善防聋策略提供依据。方法随机选择1 902名生后3~5d的新生儿,在听力筛查基础上采集微量足跟血进行基因GJB2、线粒体12SrRNA、SLC26A4的聚合酶链扩增反应(PCR),通过基质辅助激光解吸附/电离飞行时间质谱方法检测GJB2基因35delG、176-191del16、235delC、299-300delAT;SLC26A4基因IVS7-2A>G、2168A>G;线粒体12SrRNA基因1494C>T、1555A>G等3个基因8个突变位点;对聋病易感基因突变的分子流行病学特点进行分析。结果检出50例聋病易感基因突变,3个基因5个位点突变的总体携带率为2.63%;男性携带率为2.90%,女性为2.35%;禅城、南海、顺德区致病突变的携带率分别为3.51%、3.31%、3.10%;不同年龄组孕母(20岁~、25岁~、30岁~、40岁~)所生新生儿检出聋病易感基因携带率分别为2.48%、2.72%及2.94%;未检出GJB2基因35delG、176-191del及线粒体12SrRNA基因1494C>T位点突变。聋病基因携带者均通过了听力筛查。结论聋病易感基因突变的分子流行病学特点在男女性别比例、区域分布及不同年龄组孕母所生婴儿中无显著差异;在听力筛查基础上联合开展聋病易感基因普遍筛查,及时发现可通过常规听力筛查但具有迟发性耳聋高危因素的儿童,早期干预指导,对完善及优化防聋策略具有指导意义。 Objective To investigate the molecular epidemiological characteristics of susceptible genes of deafness in newborns and to provide basis for improving deafness prevention strategies. Methods A total of 1 902 newborn infants aged 3 to 5 days after birth were selected randomly. Micro-heel blood was collected on the basis of hearing screening for polymerase chain reaction (PCR) of GJB2, mitochondrial 12SrRNA and SLC26A4, The GJB2 gene 35delG, 176-191del16, 235delC, 299-300delAT and the SLC26A4 gene IVS7-2A> G and 2168A> G were detected by the method of adsorption / ionization time of flight mass spectrometry. 8 genes including mitochondrial 12SrRNA gene 1494C> T and 1555A> Mutation sites; molecular epidemiology of susceptible gene mutations in deafness were analyzed. Results 50 cases of deaf disease were detected susceptible gene mutations, 3 gene 5 loci mutation rate of 2.63% overall carrying rate; men carrying rate of 2.90%, 2.35% of women; Chancheng, Nanhai, Shunde disease-causing mutations Were 3.51%, 3.31%, 3.10%, respectively. The prevalence of susceptible genes for deafness in newborn infants born in different age groups (20 years old, 25 years old, 30 years old, 40 years old) Were 2.48%, 2.72% and 2.94%, respectively. No mutations in 35delG, 176-191del of GJB2 gene and 1494C> T of mitochondrial 12SrRNA gene were detected. Deaf disease gene carriers have passed the hearing screening. Conclusions The molecular epidemiological characteristics of deaf-susceptible gene mutations have no significant difference in the male-to-female sex ratio, regional distribution and infants born in different age groups. On the basis of hearing screening, universal screening of susceptible genes for deafness , The timely detection of children who can be screened by routine hearing but who have the risk of delayed deafness in their early intervention guidance is instructive in improving and optimizing deafness prevention strategies.