中华耳科学杂志2025，Vol.23Issue(5)：643-647,5.DOI:10.3969/j.issn.1672-2922.2025.05.004
安庆市10105例新生儿遗传性耳聋基因突变筛查结果分析
Genetic Screening for Hereditary Hearing Loss in Newborns in Anqing City
摘要
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.关键词
安庆市/遗传性耳聋/新生儿/基因芯片Key words
anqing city/hereditary deafness/neonates/gene chip/screening引用本文复制引用
龚莉,赖俊仁,陈瑾芬,刘文其,张宇晴,朱庆丰,胡淑宝..安庆市10105例新生儿遗传性耳聋基因突变筛查结果分析[J].中华耳科学杂志,2025,23(5):643-647,5.基金项目
安徽省教育厅重点项目(2022AH051048) （2022AH051048）
皖西南生物多样性研究与生态保护安徽省重点实验室开发基金项目(Wsz202203,Wsz202205) （Wsz202203,Wsz202205）
