6714例新生儿脐血线粒体DNA 12S rRNA基因筛查的价值分析  

Screening and analysis of mitochondrial DNA 12S rRNA gene in cord blood of 6714 newborns

作　　者：叶林可 陈茜[2] 戴显宁 王倩 童郁 许锴 YE Lin-Ke;CHEN Xi;DAI Xian-Ning(Maternal and Child Health Care of Wenzhou People's Hospital,Wenzhou,Zhejiang 325000,China)

机构地区：[1]温州市人民医院妇幼保健院,浙江温州325000 [2]温州市鹿城区疾病预防控制中心,浙江温州325000

出　　处：《中国妇幼保健》2020年第17期3246-3249,共4页Maternal and Child Health Care of China

基　　金：温州市医药卫生科研项目(2018B10);温州市公益性社会发展(医疗卫生)科技项目(Y20160194)。

摘　　要：目的探讨在温州地区开展新生儿药物性耳聋基因普筛的价值和临床意义。方法选择2015年6月-2018年6月温州市人民医院出生的6714例新生儿为研究对象,留取脐血并于48 h后进行常规听力筛查,应用Sanger测序法对线粒体DNA 12S rRNA进行测序分析。结果6714例新生儿出听力筛查最终未通过20例(0.3%),最终诊断为6例新生儿听力不同程度下降。mtDNA 12S rRNA基因筛查出mtDNA 12S rRNA突变类型19种,其中与氨基糖甙类药物明确相关的1555A>G突变32例,1494C>T突变1例,携带率0.49%(33/6714)。经χ2检验携带基因突变者的听力筛查通过率明显低于未携带耳聋基因突变者,差异有统计学意义(χ2=73.753,P<0.01)。结论通过对新生儿脐血线粒体DNA 12S rRNA基因测序分析,早期发现药物性耳聋基因携带者,并通过用药警示,预防或者延缓迟发型耳聋的发生。Objective To discuss the value and clinical significance of screening the drug induced deafness genes in the newborn of wenzhou area.Methods From June 2015 to June 2017,newborn infants were screened in our hospital.Sanger sequencing ofwas used to screen mitochondrial DNA 12S rRNA gene,and hearing screening was performed after 48 hours of birth,and the results of gene sequencing and hearing data were analyzed.Results In 6714 newborns,the hearing screening failed 20 cases,the total failure rate was about 0.3%.and 6 newborns were diagnosed with hearing loss at 3 months of age.There were 19 types of mtDNA 12S rRNA mutation,among which 32 cases of 1555A>G mutation and 1 case of 1494C>T mutation with the carrying rate of 0.49%(33/6714).The rate of hearing screening in children with deafness gene mutation was significantly lower than that without deafness gene mutation,and the difference was statistically significant(χ2=73.753,P<0.01).Discussion:through the screening of mitochondrial DNA 12S rRNA gene in newborns,some drug induced deafness gene carriers were identified,so as to prevent or delay the occurrence and development of deafness.

关 键 词：新生儿筛查 药物性耳聋 线粒体DNA 脐带血 听力 

分 类 号：R764.4[医药卫生—耳鼻咽喉科]