Abstract: Objective To explore the features of molecular epidemiology of deafness predisposing genes and to provide a basis for optimizing the strategy for pre-deaf through universal newborn genetic screening. Methods A total of 1 902 newborns were taken blood spot at heel in 3~5 days and accepted deafness predisposing genes screening.All samples performed the polymerase chain reaction (PCR)for screening GJB2 and the mitochondrial 12SrRNA as well as SLC26A4 gene mutations.Eight mutations of three genes(GJB2 35delG, 176-191del 16, 235delC and 299-300delAT, SLC26A4 IVS7-2A>G and 2168A>G , 12S rRNA 1494C >T and 1555A >G)were detected by matrix assister laser desorption/ionization time-of-flight mass spectrometry ( MALDI-TOF-MS ).The features of molecular epidemiology of deafness predisposing genes mutations in newborns were studied. Results The deafness predisposing genes screening showed there were 50 carriers in the 1 902 infants.The overall carrier frequency of five mutations of three genes was 2.63%, with 2.90% in males and 2.35% in females.3.51% in Chancheng district, 3.31% in Nanhai district and 3.10% in Shunde district.In different maternal age groups, the carrier frequency was 2.48%, 2.72% and 2.94% respectively.No infant was GJB2 35delG, 176-191del or 12S rRNA 1494C>T carrier, while all carriers of deafness predisposing genes passed the hearing screening. Conclusions The features of molecular epidemiology of deafness predisposing genes in Foshan revealed that there was no apparent difference in gender ratio, regional distribution and maternal age.Hearing concurrent genetic screening can find neonates with late-onset hearing impairment promptly and provide prognostic information for early treatment, which is significant for the optimization of the strategy for pre-deaf.

Key words: deafness, gene, molecular epidemiology, newborn

摘要： 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3~5 d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12S rRNA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。

关键词: 基因, 分子流行病学, 新生儿, 聋病