遗传性耳聋基因芯片在新生儿重症监护室筛查中的应用  

Application of genetic deafness gene chip in neonatal intensive care unit for screening

作　　者：李婷[1] 彭薇 马宁[1] 李昊[1] 杨晓 Li Ting;Peng Wei;Ma Ning;Li Hao;Yang Xiao(BaYi Children’s Hospital,Seventh Medical Center of Chinese PLA General Hospital,Department of Pediatrics,Chinese PLA General Hospital,National Engineering Laboratory for Birth defects prevention and control of key technology,Beijing Key Laboratory of Pediatric Organ Failure,Beijing 100700,China)

机构地区：[1]解放军总医院第七医学中心八一儿童医院,解放军总医院儿科医学部,出生缺陷防控关键技术国家工程实验室,儿童器官功能衰竭北京市重点实验室,北京100700

出　　处：《发育医学电子杂志》2020年第4期338-341,共4页Journal of Developmental Medicine (Electronic Version)

基　　金：国家重点研发计划(2018YFC1002701)。

摘　　要：目的分析新生儿重症监护室(neonatal intensive care unit,NICU)遗传性耳聋基因检测结果,探讨遗传性耳聋基因芯片在NICU新生儿耳聋基因筛查中的应用价值。方法选择NICU中的3728例新生儿,采用9项遗传性耳聋基因检测试剂盒(微阵列芯片法)对新生儿进行中国人群常见4种耳聋基因突变筛查。结果在3728例NICU新生儿中,共检测到180例新生儿携带耳聋基因突变,总突变携带率为4.82%。其中GJB2基因突变103例(2.76%),GJB3538 C>T位点突变8例(0.21%),SLC26A4基因突变58例(1.55%),线粒体12SrRNA基因突变7例(0.19%),GJB2基因176_191 del 16和235 del C位点复合杂合突变、GJB2基因235 del C位点和SLC26A4基因IVS7-2A>G位点双杂合突变各1例,GJB2基因235 del C位点和线粒体12SrRNA基因1555A>G位点双杂合突变2例。结论NICU新生儿为耳聋高危群体,耳聋基因筛查对预防耳聋尤其是药物敏感性耳聋具有重要价值。Objective To analyze the genetic screening results of hereditary deafness in the neonates of neonatal intensive care unit(NICU)and explore the clinical value of genetic deafness gene chip in hereditary deafness screening in NICU neonates.Methods This study enrolled 3728 NICU neonates.Nine deafness-related gene mutations detection kit(microarray chip)were used to screen 4 common deafness gene mutations in NICU neonates.Results In 3728 NICU neonates,180 cases had deafness gene mutations(4.82%).Of these,103 cases(2.76%)were GJB2 mutations,8 cases(0.21%)were GJB3538 C>T mutations,58 cases(1.55%)were SLC26A4 mutations,7 cases(0.19%)were mtDNA 12SrRNA gene mutations,1 case was compound heterozygous mutations of GJB2176_191 del 16/235 del C,1 case was GJB2235 del C/SLC26A4 IVS7-2A>G double heterozygous mutations and 2 cases were of GJB2235 del C/mtDNA 12SrRNA 1555A>G double heterozygous mutations.Conclusion Because NICU neonates are at high risk of deafness,deafness gene screening is of great value in preventing deafness,especially drug-sensitive deafness.

关 键 词：新生儿 耳聋基因 基因芯片 突变筛查 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]