中华耳科学杂志2026，Vol.24Issue(8)：786-789,4.DOI:10.3969/j.issn.1672-2922.2026.08.010
乌兰察布市4860名新生儿耳聋基因筛查检测结果分析
Deafness gene screening in 4860 newborns in Ulanqab
摘要
Abstract
Objective To report the carrier rate and patterns of deafness gene mutations in newborns in Ulanqab City to provide a scientific basis for the formulation of regional comprehensive prevention and control strategies for birth defects.Methods Using multiplex probe-based polymerase chain reaction(PCR)sequencing technology,4860 newborns born at Ulanqab Central Hospital from October 2020 to October 2023 were screened for 20 hotspot mutations of 4 common genes related to hearing loss,to obtain their regional distribution characteristics among newborns.Results Mutations were detected in 381 of the 4860 newborns(total carrier rate=7.84%),involving GJB2 at 2.55%,GJB3 at 0.33%,SLC26A4 at 3.83%and MT-RNRI(12S rRNA)at 1.13%.Conclusions The carrier rate of deafness gene mutations among Ulanqab newborns is relatively high,primarily involving the GJB2 and SLC26A4 genes,with non-hotspot mutations accounting for a significant proportion.These findings suggest the need to optimize local newborn deafness screening protocols and implement long-term follow-up monitoring in newborns carrying variants of uncertain significance(especially those with incomplete pathogenicity exclusion).关键词
耳聋基因筛查/新生儿/基因突变Key words
deaness gene screening/newborns/gene mutations引用本文复制引用
吴疆,张兰芳,代继禄,王治宇,刘宏延,杨颖,武鹏,汪英男..乌兰察布市4860名新生儿耳聋基因筛查检测结果分析[J].中华耳科学杂志,2026,24(8):786-789,4.基金项目
内蒙古医学科学院公立医院科研联合基金科技项目(2023GLLH0406) （2023GLLH0406）
内蒙古自治区自然科学基金项目(2024QN08068) （2024QN08068）
