Abstract: Background　Newborn hearing screening is widely performed worldwide，and plays an important role in early detection，diagnosis，and intervention of hearing loss.Concurrent hearing and genetic screening in the whole newborn population in Beijing was launched in January 2012.This concurrent testing is expected to play important roles.Objective　To screen for genetic deafness mutations in newborns with microarray gene chip，and to evaluate the frequency and type of mutations in four common deafness genes as well as their correlations with deafness，providing clinical research evidence for promoting newborn hearing gene screening.Methods　Participants were 17 824 newborns recruited from Center for Reproductive Medicine，Department of Obstetrics and Gynecology，Peking University Third Hospital in 2017.Heel blood was collected three days after birth.Nine mutation sites of four common deafness genes were screened by microarray gene chip，and the positive results were sequenced and verified.Results　890（4.99%） were found with positive results of the testing，including 501（2.81%） with heterozygous mutations in the GJB2 gene，290（1.63%） with heterozygous mutations in the SLC26A4 gene，1（0.01%） with homozygous mutations in the SLC26A4 gene，41（0.23%） with mitochondrial DNA 12S rRNA mutations，41（0.23%） with homozygous mutations in the GJB3 gene，and 16（0.09%） with double heterozygous mutations.Conclusion　GJB2 gene mutation and SLC26A4 gene mutation are the most common mutations in neonatal deafness.Microarray gene chip may effectively detect congenital deafness，delayed deafness and drug-induced deafness-associated gene mutations as early as possible.Being a rapid and highly efficient means for screening newborn deafness，microarray gene chip screening is of great significance for early diagnosis and intervention and genetic consultation of the disease.Therefore，its combined use with neonatal hearing loss screening should be popularized in China.

Key words: Hearing loss, Hereditary hearing loss, Neonatal screening, Genes, Microarray gene chip

摘要： 背景　新生儿听力筛查在世界范围内广泛开展，在早期发现、诊断和干预方面发挥了重要作用。2012年1月北京市启动了新生儿听力和基因筛查同步工作，同时进行新生儿听力和基因筛查，将发挥重要作用。目的　应用微阵列基因芯片对新生儿进行遗传性耳聋筛查，评估新生儿中4个常见遗传性耳聋基因突变的频率、突变类型以及其与遗传性耳聋的相关性，为推广新生儿遗传性耳聋基因筛查提供临床研究证据。方法　选取2017年度北京大学第三医院妇产科生殖医学中心检测的17 824例新生儿，采集出生3 d后的足跟血，使用微阵列基因芯片进行4个常见遗传性耳聋基因9个突变位点的筛查，对阳性结果进行测序验证。结果　新生儿遗传性耳聋基因筛查17 824例，检出阳性890例，阳性率为4.99%。其中GJB2基因杂合突变型501例（2.81%），SLC26A4基因杂合突变型290例（1.63%），SLC26A4基因纯合突变型1例（0.01%），线粒体DNA 12S rRNA突变型41例（0.23%），GJB3基因杂合突变型41例（0.23%），双杂合突变型16例（0.09%）。结论　新生儿常见遗传性耳聋基因突变以GJB2基因突变、SLC26A4基因突变为主，微阵列基因芯片可以及早有效地检出先天性耳聋、迟发性耳聋及药物性耳聋基因的携带情况。微阵列基因芯片筛查，快速、高效，对遗传性耳聋的早期诊断、早期干预及遗传咨询具有重要意义，提倡推广新生儿听力筛查联合基因筛查。

关键词: 听觉丧失, 遗传性耳聋, 新生儿筛查, 基因, 微阵列基因芯片