[1]李建军,郭 萌,马 丽,等.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[J].现代检验医学杂志,2025,40(03):91-95,107.[doi:10.3969/j.issn.1671-7414.2025.03.017]
　LI Jianjun,GUO Meng,MA Li,et al.Analysis and Research on the Screening of 23 Deafness Susceptible Gene Mutations Using Microfluidic Chip Method in 10 561 Newborns in Shenzhen Area[J].Journal of Modern Laboratory Medicine,2025,40(03):91-95,107.[doi:10.3969/j.issn.1671-7414.2025.03.017]
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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()

《现代检验医学杂志》[ISSN:/CN:]

卷:
第40卷
期数:
2025年03期
页码:
91-95,107
栏目:
论著
出版日期:
2025-05-15

文章信息/Info

Title:
Analysis and Research on the Screening of 23 Deafness Susceptible Gene Mutations Using Microfluidic Chip Method in 10 561 Newborns in Shenzhen Area
文章编号:
1671-7414（2025）03-091-06
作者:
李建军1，郭 萌1，马 丽1，詹子君1，付笑迎2
（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；2.深圳市儿童医院检验科，广东深圳 518000)
Author(s):
LI Jianjun1, GUO Meng1, MA Li1, ZHAN Zijun1, FU Xiaoying2
(1.Newborn Disease Screening Centre, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University，Guangdong Shenzhen 518028，China；2.Department of Laboratory Medicine，Shenzhen Children’s Hospital, Guangdong Shenzhen 518000，China)
关键词:
新生儿; 微流控芯片技术; 耳聋易感基因; 基因突变位点
分类号:
R764.43；Q754
DOI:
10.3969/j.issn.1671-7414.2025.03.017
文献标志码:
A
摘要:
目的利用微流控芯片技术对深圳地区新生儿进行23项耳聋易感基因突变位点的筛查并分析，旨在提高先天性耳聋疾病的早期诊断效率与准确度。方法以2021年11月～2023年1月在深圳地区19家医院分娩的10561例新生儿为研究对象，通过采集其足跟末梢血样本，运用微流控芯片技术，针对4个核心耳聋易感基因（GJB2，SLC26A4，12SrRNA，GJB3）中的23个关键突变位点进行检测。结果21.87%（2310/10561）的新生儿携带至少一种耳聋易感基因变异，其中GJB2基因的突变携带率高达20.42%（2157/10561）。此外，还检出57例新生儿存在复合杂合突变情况，为进一步验证筛查结果的准确度，从2310例初步筛查为耳聋基因携带者的新生儿中，召回了1203例采用金标准Sanger测序进行复核，复核结果与初筛结果完全一致。结论微流控芯片技术结合Sanger测序验证的方法，显著提高了新生儿耳聋基因的检出效率与准确度，为实现耳聋出生缺陷的三级预防策略提供了科学依据与实践指导。
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.

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备注/Memo

备注/Memo:
基金项目：深圳市科技创新委员会面上项目（No.JCYJ20210324142201004）。
作者简介：李建军（1979-），女，本科，主管技师，研究方向：分子生物学、遗传代谢病，E-mail:478857623@qq.com。
通讯作者：付笑迎（1985-），女，博士，副主任技师，研究方向：儿童血液肿瘤性疾病的流式诊断，E-mail: xiaoying_fu@foxmail.com。
更新日期/Last Update: 2025-05-15