Abstract: Objective To explore the significance of newborn screening for mutations of deafness-related genes, in order to provide ear and hearing care guidance to parents.Methods With the informed consent of the parturient and her family, totally 33 321 cases of neonatal heel blood were collected from August 2014 to February 2018, matrix assisted laser desorption ionization time-of-flight mass spectrometry was used to detect 20 mutation sites of 4 deafness-related genes.Results Among 33 321 neonates, 1 693(5.08%) neonates were positive. The number of neonates carrying heterozygous mutations in GJB2, SLC26A4, and GJB3 were 893, 546 and 123, respectively. And the corresponding carrier rates were 2.68%, 1.64% and 0.37%, respectively. The number of neonates carrying homogeneous or heterogeneous mutation in mitochondrial 12S rRNA gene was 96 with a carrier rate of 0.29%. In addition, 8 cases of homozygous or complex heterozygous mutations in GJB2 gene and 2 cases of homozygous or complex heterozygous mutations in SLC26A4 gene were identified. There were also 25 cases of double heterozygous mutations.Conclusion Deafness-related gene screening in newborn is crucial for early detection, diagnosis and intervention in children with hearing impairment.

Key words: deafness-related gene, screening, neonate

摘要： 目的 探讨新生儿耳聋基因筛查的意义,对携带耳聋基因儿童的家长提出预警并指导其进行听力学随诊和生活防护。方法 经产妇及家属知情同意后,收集本地区2014年8月—2018年2月出生的33 321例新生儿足跟血,用基质辅助激光解吸电离飞行时间质谱技术进行4个常见耳聋相关基因20个突变点的检测。结果 33 321例新生儿检测出阳性1 693例,占总人数的5.08%。分别为GJB2基因杂合突变893例,携带率为2.68%;SLC26A4基因杂合突变546例,携带率为1.64%;GJB3基因杂合突变123例,携带率为0.37%;线粒体12SrRNA基因均质或异质突变96例,携带率为0.29%。另发现GJB2基因纯合或复合杂合突变8例,SLC26A4基因纯合或复合杂合突变2例,双基因杂合突变25例。结论 新生儿耳聋基因筛查对听力障碍患儿的早期发现、早期诊断和早期干预具有重要意义。

关键词: 耳聋基因, 筛查, 新生儿