Genetic Screening for Hereditary Hearing Loss in Newborns in Anqing City

GONG Li; LAI Junren; CHEN Jinfen; LIU Wenqi; ZHANG Yuqing; ZHU Qingfeng; HU Shubao

doi:10.3969/j.issn.1672-2922.2025.05.004

Abstract：Objective To report the carrier rate and mutation spectrum of hereditary deafness genes in newborns in Anqing City,to provide foundational data for the prevention and control of hereditary deafness in this region.Methods A total of 10,105 newborns(5,334 males and 4,771 females)born between July 10,2017 and June 19,2018,at five maternity institutions in Anqing City,including Anqing Municipal Hospital,Anqing First People's Hospital,Anqing Second People's Hospital,PLA Navy Anqing Hospital(No.116 Hospital),and Anqing Petrochemical Hospital,were screened.Heel blood spots were collected and genomic DNA extracted.Microarray chip hybridization was used to detect 9 loci in 4 deafness susceptibility genes(GJB2,SLC26A4,mtDNA 12SrRNA and GJB3).Results A total of 427 carriers of deafness gene mutations were identified(4.23%,427/10105).The carrier rates for GJB2,SLC26A4,mtDNA 12S rRNA and GJB3 gene mutations were 2.35%,1.42%,0.32%and 0.15%,respectively.GJB2,SLC26A4 and GJB3 mutations were all heterozygous,while mtDNA 12S rRNA mutations were homoplasmic in 23 cases and heteroplasmic in 9 cases.No carriers with multi-loci mutations were found.Follow-up observations found no hearing abnormalities in these carriers within 5～6 years,suggesting that intervention measures may have reduced the incidence of deafness.Conclusion The carrier rate of hereditary deafness gene mutations among newborns in Anqing City is 4.23%,with GJB2 mutations being predominant.