Screening of Deafness Gene Hotspot Mutations among Neonates in Jincheng
LI Haidan
XIN Jiaxin
WU Mengyuan
ZHANG Yanyan
WANG Mengkun
BAI Ya
DUAN Jianfeng
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.
Keywords：the newbornsdeafness genesflow-through hybridizationhigh-incidence area
Publication Date：2025-10-20
Online Publishing Date：2025-10-17(First online date of this platform, not the publication date of the document)
Pages：5( 858-862 )