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

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