International Journal of Clinical Research

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.

The newborns; Deafness genes; Flow-through hybridization; Mutation rate