新生儿,耳聋基因,基因芯片,突变筛查 ," /> 新生儿,耳聋基因,基因芯片,突变筛查 ,"/> Neonate,Deafness gene,Microarray gene chip,Mutation screen ,"/> <div> <span style="line-height:2;font-size:14px;">遗传性耳聋基因芯片在新生儿重症监护</span><span style="line-height:2;font-size:14px;">室筛查中的应用</span> </div>
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发育医学电子杂志  2020, Vol. 8 Issue (4): 338-341    DOI: 10.3969/j.issn.2095-5340.2020.04.010
  围产医学   临床经验交流 |新生儿 |
遗传性耳聋基因芯片在新生儿重症监护室筛查中的应用
李婷 彭薇 马宁 李昊 杨晓
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
Application of genetic deafness gene chip in neonatal intensive care unit for screening
Li Ting, Peng Wei, Ma Ning,et al
BaYi Children’s Hospital, Seventh Medical Centerof Chinese PLA General Hospital; Department of Pediatrics, Chinese PLA General Hospital; NationalEngineering Laboratory for Birth defects prevention and control of key technology; Beijing Key Laboratoryof Pediatric Organ Failure, Beijing 100700, China
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摘要 
【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 3 728 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 3 728 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%),GJB3 538 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。
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Abstract: 
【Abstract】 Objective To analyze the genetic screening results of hereditary deafness in the neonatesof neonatal intensive care unit (NICU) and explore the clinical value of genetic deafness gene chip inhereditary deafness screening in NICU neonates. Methods This study enrolled 3 728 NICU neonates.Nine deafness-related gene mutations detection kit(microarray chip) were used to screen 4 common deafnessgene mutations in NICU neonates. Results In 3 728 NICU neonates, 180 cases had deafness genemutations (4.82%). Of these, 103 cases(2.76%)were GJB2 mutations, 8 cases(0.21%)were GJB3 538C>T mutations, 58 cases(1.55%)were SLC26A4 mutations, 7 cases(0.19%)were mtDNA 12SrRNA genemutations, 1 case was compound heterozygous mutations of GJB2 176_191 del 16/235 del C, 1 case wasGJB2 235 del C/SLC26A4 IVS7-2A>G double heterozygous mutations and 2 cases were of GJB2 235del C/ mtDNA 12SrRNA 1555A>G double heterozygous mutations. Conclusion Because NICUneonates are at high risk of deafness, deafness gene screening is of great value in preventing deafness,especially drug-sensitive deafness.
Key words:  Neonate')" href="#">
收稿日期:  2019-08-26                     发布日期:  2020-11-04     
基金资助: 
国家重点研发计划(2018YFC1002701)
通讯作者:  杨晓    E-mail:  yangxiao8156@163.com
引用本文:    
李婷 彭薇 马宁 李昊 杨晓.
遗传性耳聋基因芯片在新生儿重症监护室筛查中的应用
[J]. 发育医学电子杂志, 2020, 8(4): 338-341.
Li Ting, Peng Wei, Ma Ning, et al.
Application of genetic deafness gene chip in neonatal intensive care unit for screening
. Journal of Developmental Medicine(Electronic Version), 2020, 8(4): 338-341.
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http://www.fyyxzz.com/CN/10.3969/j.issn.2095-5340.2020.04.010  或          http://www.fyyxzz.com/CN/Y2020/V8/I4/338
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