Analysis of Combined Results of Deafness Gene and Hearing Screening in 3 023 Newborns from Poor Families in Guyuan,Ningxia / 听力学及言语疾病杂志

ABSTRACT

Objective To imvestigate the application value of combined newborn deafness genetic and hearing screening in the prevention of deafness in poor families in Ningxia.Methods Heel blood was collected from 3 023 neonates in Guyuan City,and 15 loci of 4 deafness genes were detected by gene chip technology of hereditary deaf-ness.At the meantime,heaning was screened and followed-up in all newborns.Results Among the 3 023 neo-nates,123 were positive for deafness gene screening(4.07％,123/3 023),including 56 cases with GJB2 mutation(1.85％,56/3 023),46 cases with SLC26A4 mutation(1.52％,46/3 023),6 cases with GJB3 mutation(0.20％,6/3 023),14 cases with mtDNA12SrRNA(0.46％,14/3 023).The mutation detection rates of c.235delC and c.IVS7-2A＞G loci were 1.36％(41/3 023)and 0.93％(28/3 023)respectively,which were the main mutation types.A total of 98 cases were found in Hui nationality to carry deafness gene mutation,with a carrying rate of 4.26％(98/2 302).A total of 25 mutations were detected in the Han nationality(3.49％,25/715).The total mu-tation rate of four common deafness mutation genes between Hui and Han was not significantly different(P＞0.05).All 123 newborns with deafness gene mutation passed the hearing screening(100％).The hearing screening passing rate of 690 Han newborns with negative deafness gene screening results was 99.71％(688/690),and the hearing screening passing tate of 2 204 Hui newborns with negative deafness gene screening results was 99.86％(2 201/2 204).There was no significant difference in the failure rate of hearing screening between Hui and Han newborns with positive deafness gene screening(P＞0.05).All 3 023 neonates completed follow-up(100％).Five neonates failed to pass the hearing re-examination,and 3 neonates were diagnosed with hearing loss.The hearing follow-up of 123 neonates with positive deafness gene mutation showed normal hearing and language development.Conclusion GJB2:c.235delC and SLC26A4:c.IVS7-2A＞G are the main pathogenic gene mutations in the neonates of poor and registered households in Guyuan area.The mitochondrial 12SrRNA carrying rate in Han neonates is higher than that in Hui neonates.