The Joint Screening of Hearing and Deafness Gene for Newborns in Wuhan City / 听力学及言语疾病杂志

ABSTRACT

Objective To investigate the prevalence and distribution of deafness gene mutations by the joint screening of deafness-related genes and hearing in Wuhan .Methods A total of 117930 newborns born in 2014 and 2015 volunteered to participate in this study .Besides traditional hearing screening ,heel blood of all subjects were collected to detect four sites of three common deafness genes GJB 2 (235delC ) ,SLC26A4 (919 -2A > G ) ,and DNA 12SrRNA(1555A>G ,1494C> T) .Results The total mutation rate of deafness gene was 3 .00％ in 117930 newborns .The highest spots were GJB2235delC and SLC26A4919-2 mutation .A total of 109036 newborns pas-sed the combined screenings ,and 5353 newborns passed the gene screening ,but failed hearing screening .A total of 32131 newborns passed the hearing screening with gene mutation ,while 310 newborns failed in both .Newborns with gene mutation were more likely to fail hearing screening .Conclusion This study indicates that neonatal deafness gene screening in combination with hearing screening not only can effectively improve the detection rate of hearing loss or high risk children ,but also can provide detailed genetic information to promote the popularization and application of such concurrent screenings .