摘要
目的通过对新生儿线粒体12S rRNA基因突变的检测,探讨线粒体耳聋基因筛查的必要性和可行性。方法对2018-12至2021-10在石家庄市第四医院出生的46376例新生儿采用荧光定量PCR检测技术进行线粒体12S rRNA检测,检测突变位点为A1555G和C1494,对结果阳性新生儿进行预防接种随访。结果46376例新生儿线粒体12S rRNA检测结果中共发现突变94例,突变携带率为0.20%。其中,A1555G均质突变76例,异质突变14例,其中1例异质突变为新发;C1494T均质突变3例,异质突变1例。完成随访88例,随访年龄5~32月龄,78例(88.64%)幼儿按月龄常规接种疫苗,10例接种部分疫苗,正常接种率88.64%,与未携带者对比差异存在统计学意义(P<0.01)。结论进行线粒体12S rRNA基因筛查可以在早期发现氨基糖苷类抗生素敏感个体,避免药物性聋的发生。
Objective To explore the necessity and feasibility of mitochondrial deafness gene screening by detecting mitochondrial 12 S rRNA gene mutations in neonates.Methods Mitochondrial 12 S rRNA was detected by fluorescence quantitative PCR in 46376 neonates born in the Fourth Hospital of Shijiazhuang from December 2018 to October 2021,and the mutation sites were A1555 G and C1494.The neonates with positive results were followed up for vaccination.Results A total of 94 cases of mitochondrial 12 S rRNA mutations were detected in 46376 neonates,,and the positive rate was 0.20%.Among them,76 cases were homogeneous of A1555 G,and 14 cases were heterogeneous,among which 1 case was new.At the C1494 T mutation,3 cases were homogeneous and 1 case was heterogeneous.88 cases were followed up,ranging in age from 5 to 32 months,78 cases(88.64%)were routinely vaccinated according to the age of month,and the other 10 cases were partially vaccinated.The rate of normal vaccination was 88.64%,and there was statistical difference(P<0.01).Conclusions Mitochondrial 12 S rRNA gene screening can detect aminoglycoside antibiotic sensitive individuals in the early stage and avoid the occurrence of drug-induced deafness.
作者
孙东兰
王少雄
张晶
彭园园
乔彦霞
胡亚芳
张静
SUN Donglan;WANG Shaoxiong;ZHANG Jing;PENG Yuanyuan;QIAO Yanxia;HU Yafang;ZHANG Jing(Prenatal Diagnostic Center,the Fourth Hospital of Shijiazhuang,Shijiazhuang 050011,China;Department of Neonatology,the Fourth Hospital of Shijiazhuang,Shijiazhuang 050011,China)
出处
《武警医学》
CAS
2022年第9期774-777,共4页
Medical Journal of the Chinese People's Armed Police Force
基金
河北省重点研发计划项目卫生健康创新专项(21377720D)
石家庄市科技计划项目(141463093)
