Analysis and Research on the Screening of 23 Deafness Susceptible Gene Mutations Using Microfluidic Chip Method in 10 561 Newborns in Shenzhen Area
10.3969/j.issn.1671-7414.2025.03.017
- VernacularTitle:深圳地区10561例新生儿应用微流控芯片法筛查23项耳聋易感基因突变位点的分析研究
- Author:
Jianjun LI
1
;
Meng GUO
;
Li MA
;
Zijun ZHAN
;
Xiaoying FU
Author Information
1. 南方医科大学深圳妇幼保健院新生儿疾病筛查中心,广东 深圳 518028
- Publication Type:Journal Article
- Keywords:
newborn;
microfluidic chip technology;
deafness susceptible gene;
gene mutation sites
- From:
Journal of Modern Laboratory Medicine
2025;40(3):91-95,107
- CountryChina
- Language:Chinese
-
Abstract:
Objective To screen and analyze 23 mutation sites of deafness susceptibility genes in newborns in Shenzhen using microfluidic chip technology,aiming to enhance the efficiency and accuracy of early diagnosis of congenital deafness.Methods A total of 10 561 newborns delivered in 19 hospitals in Shenzhen between November 2021 and January 2023 were selected.Heel blood samples were collected from them,and 23 key mutation sites within four core deafness susceptible genes(GJB2,SLC26A4,12S rRNA and GJB3)were detected using microfluidic chip technology.Results The results revealed that 21.87%(2 310/10 561)of the newborns carried at least one mutation in deafness susceptibility genes,with the mutation carrier rate of the GJB2 gene reaching as high as 20.42%(2 157/10 561),57 newborns were found to has compound heterozygous mutations.To further verify the accuracy of the screening results,1 203 newborns out of the 2 310 initially screened as deafness gene carriers were recalled for Sanger sequencing,the gold standard,for verification.The verification results were fully consistent with the initial screening results.Conclusion The method combining microfluidic chip technology with Sanger sequence verification significantly improves the detection efficiency and accuracy of neonatal deafness genes,providing scientific evidence and practical guidance for implementing the three-level prevention strategy for congenital deafness.
