摘要
目的分析江苏省泰兴地区300例听力正常孕妇的药物性耳聋基因筛查结果。方法选取300例孕妇作为研究对象,应用荧光聚合酶链式反应(PCR)进行线粒体DNA 12S rRNA的A1555G和C1494T突变位点的筛查,对孕妇携带者子代进行相同的突变位点筛查。结果300例孕妇中,筛查出A1555G突变携带率0.67%(2/300),未发现C1494T突变;2例孕妇携带者的子代均携带A1555G突变,但均通过了新生儿听力筛查。结论在江苏省泰兴地区开展孕妇药物性耳聋突变筛查具有重要的意义,可以为突变携带者及子代提供合理的用药指导、遗传咨询,降低药物性耳聋的发生率。
Objective To analyze the genetic screening result of drug-induced deafness in 300 pregnant women with normal hearing in Taixing area of Jiangsu Province.Methods Totally 300 pregnant women were selected as research subjects.The A1555G and C1494T mutation sites of mitochondrial DNA 12S rRNA were screened by fluorescent polymerase chain reaction(PCR),and the same mutation sites were also screened in the offspring of carriers of pregnant women.Results Among 300 pregnant women,the carrying rate of A1555G mutation was 0.67%(2/300),and the C1494T mutation was not found.The neonates of the two carriers of pregnant women had A1555G mutation,but they all passed the neonatal hearing screening.Conclusion It is of great significance to carry out mutation screening of drug-induced deafness in pregnant women in Taixing area of Jiangsu Province,which can provide reasonable medication guidance and genetic counseling for mutation carriers and their offspring,and reduce the incidence of drug-induced deafness.
作者
肖颖
吴玉璘
赵永秀
林宁
XIAO Ying;WU Yulin;ZHAO Yongxiu;LIN Ning(Department of Gynecology and Obstetrics,Taixing City Maternal and Child Health Care Hospital of Jiangsu Province,Taixing,Jiangsu,225400;Jiangsu Provincial Health Development Research Center,Nanjing,Jiangsu,210000)
出处
《实用临床医药杂志》
CAS
2021年第10期15-17,共3页
Journal of Clinical Medicine in Practice
基金
国家人口计生委计划生育药具不良反应监测中心重点实验室开放基金资助项目(YJJC201805)。
关键词
药物性耳聋
基因突变
孕妇
筛查
线粒体
drug-induced deafness
gene mutation
pregnant woman
screening
mitochondrion
