中华耳科学杂志2025，Vol.23Issue(7)：858-862,5.DOI:10.3969/j.issn.1672-2922.2025.07.007
山西晋城地区26962例新生儿耳聋基因热点突变筛查结果分析
Screening of Deafness Gene Hotspot Mutations among Neonates in Jincheng
摘要
Abstract
Objective To report mutations of deafness genes among newborns in Jincheng area,Shanxi Province,to provide a scientific basis for the prevention and control of genetic deafness in newborns.Methods Flow-through hybridization technology was used to test 13 common mutation sites of 4 deafness genes in 26,962 newborns born in Jincheng,Shanxi Province,from April 2021 to November 2024.Spatial distribution pattern was identified based on screening data on a percentage stacked bar chart.Results Among the 26,962 newborns,abnormal deafness gene mutations were detected in 1,302(4.83%),including heterozygous(n=594,2.20%)and homozygous(n=3,0.01%)mutations of the GJB2 gene,heterozygous(n=475,0.79%)and homozygous(n=2,0.01%)mutations of the SLC26A4 gene,homogeneous(n=74,0.27%)and heterogeneous(n=21,0.08%)mutations of mitochondrial DNA,and heterozygous(n=115,0.43%)and compound/double gene mutation(n=18,0.07%)mutations of the GJB3 gene.High-incidence areas were identified in spatial distribution.Conclusion GJB2 gene mutations are the most common deafness gene mutations among newborns in Jincheng area,with the highest rate of gene mutations found in Gaoping City.Screening should be focused on reducing occurrence of deafness in such high incidence areas.关键词
新生儿/耳聋基因/导流杂交基因芯片/高发区Key words
the newborns/deafness genes/flow-through hybridization/high-incidence area引用本文复制引用
李海丹,邢佳欣,武梦圆,张燕燕,王梦坤,白雅,段剑锋..山西晋城地区26962例新生儿耳聋基因热点突变筛查结果分析[J].中华耳科学杂志,2025,23(7):858-862,5.基金项目
晋城市重点科技研发项目(20230218) （20230218）
