中华耳科学杂志2025，Vol.23Issue(8)：918-922,5.DOI:10.3969/j.issn.1672-2922.2025.08.002
滕州市14 153例新生儿耳聋基因筛查检测结果分析
Deafness Gene Screening Results in 14 153 Newborns in the Tengzhou
摘要
Abstract
Objective The purpose of screening 14 153 newborns in Tengzhou city was to understand the distribution and sites of deaf gene mutations in this region and provide a basis for the diagnosis and treatment of hereditary deafness,genetic consultation and maternity guidance.Methods Using high-throughput sequencing methods,100 mutant sites of 18 deafness genes were screened among 14 153 newborns at Tengzhou Maternal and Child Health Hospital(Tengzhou Children's Hospital)from October 2018 to June 2022.Mutant sites and distribution of deaf gene mutations were analyzed.Results Among the 14 153 newborns,gene mutations were detected in 984(6.95％),with 27 carrying two types of mutation genes simultaneously.GJB2 gene mutations were detected in 421(2.97％),SLC26A4 gene mutations in 371(2.62％),GJB3 gene mutations in 72(0.51％),MT-CO1 gene mutations in 75(0.53％),and MT-RNR1 gene mutations in 30(0.21％).Conclusion Deafness genes mutations among newborn in Tengzhou area primarily involve the GJB2,SLC26A4,GJB3,MT-CO1 and MT-RNR1 genes.However,the pathogenity of the MT-CO1 gene m.7444G>A site has been downgraded.so probably not a target site of conventional testing.Neonatal deafness gene screening is of great significance for early diagnosis of hereditary deafness.The pathogenicity of mutations may change overtime,and genetic counseling should be considered both before and after testing.关键词
耳聋基因筛查/新生儿/高通量测序/基因突变Key words
deaf gene screening/newborns/high-throughput sequencing/gene mutations引用本文复制引用
甄娜,马灿玲,蒋艳,杜宇,李存宇..滕州市14 153例新生儿耳聋基因筛查检测结果分析[J].中华耳科学杂志,2025,23(8):918-922,5.基金项目
山东省医药卫生科技发展计划项目(202201030419) （202201030419）
