新生儿线粒体12S rRNA基因筛查对预防药物性耳聋的价值

 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46 376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 46 376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。

Value of mitochondrial 12S rRNA gene screening in prevention of drug-induced deafness in neonates

Objective To explore the necessity and feasibility of mitochondrial deafness gene screening by detecting mitochondrial 12S rRNA gene mutations in neonates.Methods Mitochondrial 12S rRNA was detected by fluorescence quantitative PCR in 46 376 neonates born in the Fourth Hospital of Shijiazhuang from December 2018 to October 2021, and the mutation sites were A1555G and C1494. The neonates with positive results were followed up for vaccination.Results A total of 94 cases of mitochondrial 12S rRNA mutations were detected in 46 376 neonates,, and the positive rate was 0.20%. Among them, 76 cases were homogeneous of A1555G, and 14 cases were heterogeneous, among which 1 case was new. At the C1494T 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 12S rRNA gene screening can detect aminoglycoside antibiotic sensitive individuals in the early stage and avoid the occurrence of drug-induced deafness.