5025例新生儿药物性耳聋基因突变筛查结果分析

Analysis of Screening Results of Drug-Induced Deafness Gene Mutation in 5025 Neonates

通过对莆田地区新生儿药物性耳聋基因线粒体12S r RNA突变的检测结果进行分析,为预防莆田地区新生儿的药物性耳聋提供支持。对5025例新生儿采用多重Taq Man荧光PCR基因拷贝数定量检测技术进行耳聋基因线粒体12S r RNA的检测,检测位点包括A1555G和C1494T。结果,5025例新生儿耳聋基因检测中共发现7例12S r RNA A1555G纯合突变,未发现12S r RNA C1494T突变,突变比例为0.14%。结果表明,提倡新生儿药物性耳聋基因线粒体12S r RNA的检测,对预防药物性耳聋具有显著临床意义。

The study provided the support of the prevention of the drug-induced deafness through screening the mutation for the newborns mitochondrial 12 S r RNA genes mutation detection, in putian region. 5 025 newborns accepted the screening of the deafness mitochondria 12 S r RNA. It used multiple PCR Taq Man fluorescence quantitative detection technology for gene copy number. The testing point included A1555 G and C1494 T. Among 5025 neonates, 7 babies had 12 S r RNA A1555 G homozygous mutation, and mutation rate reached 0.14 %. But 12 S r RNA C1494 T mutations was not found. Detection of deafness gene mitochondria 12 S r RNA for the newborns had significant clinical significance to the prevention of drug-induced deafness.