Analysis of neonatal deafness genetic screening results in Jincheng, Shanxi
山西晋城地区新生儿耳聋基因筛查结果分析

摘要

目的 通过对山西晋城地区新生儿的耳聋基因突变情况进行分析，为新生儿耳聋基因突变防控提供科学依据。方法 运用磁珠法提取DNA、导流杂交基因芯片技术检测山西晋城地区2022年01月-2024年12月出生的23900例新生儿4个耳聋基因13个常见突变位点，并对检测结果进行综合分析。结果 23900名新生儿中，共检测出耳聋基因异常1154（4.83%），其中GJB2基因突变520例（2.17%），SLC26A4基因突变430例（1.80%），线粒体DNA 12SrRNA(MT-RNR1)突变83例（0.35%），GJB3基因突变104例（0.43%），复合突变17例（0.07%）。结论 山西晋城地区新生儿常见耳聋基因突变以GJB2基因突变为主。与全国数据对比，山西晋城地区耳聋基因突变率居于前列，尤其是GJB3和MT-RNR1基因突变率远高于全国基因突变率。

Abstract

Objective To provide a scientific basis for the prevention and control of neonatal deafness gene mutations in Jincheng, Shanxi Province, by analyzing the gene mutation status of newborns in this region.
Methods DNA was extracted using the magnetic bead method, and the 13 common mutation sites of 4 deafness genes in 23,900 newborns born in Jincheng, Shanxi Province from January 2022 to December 2024 were detected using the flow-through hybridization gene chip technology. The detection results were comprehensively analyzed.
Results Among the 23,900 newborns, 1,154 (4.83%) had abnormal deafness genes, including 520 cases (2.17%) of GJB2 gene mutations, 430 cases (1.80%) of SLC26A4 gene mutations, 83 cases (0.35%) of mitochondrial DNA 12SrRNA (MT-RNR1) mutations, 104 cases (0.43%) of GJB3 gene mutations, and 17 cases (0.07%) of compound mutations.
Conclusion   The common deafness gene mutations in newborns in Jincheng, Shanxi Province are mainly GJB2 gene mutations. Compared with national data, the mutation rate of deafness genes in Jincheng, Shanxi Province is among the highest, especially the mutation rates of GJB3 and MT-RNR1 genes are much higher than the national average.