乌兰察布市4860名新生儿耳聋基因筛查检测结果分析OA

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).