APPLICATION OF GENETIC DEAFNESS GENE CHIP FOR DETECTION OF GENE MUTATION OF DEAFNESS IN PREGNANT WOMEN-中国期刊网

摘要 ObjectiveThestudyistoidentifythecarrierrateofcommondeafnessmutationinChinesepregnantwomenviadetectingdeafnessgenemutationswithgenechip.MethodsThepregnantwomeninobstetricclinicwithouthearingimpairmentandhearingdisordersfamilyhistorywereselected.Theinformedconsentwassigned.PeripheralbloodwastakentoextractgenomicDNA.Applicationofgeneticdeafnessgenechipfordetecting9mutationalhotspotofthemostcommon4Chinesedeafnessgenes,namelyGJB2(35delG,176del16bp,235delC,299delAT),GJB3(C538T),SLC26A4(IVS72A>G,A2168G)andmitochondrialDNA12SrRNA(A1555G,C1494T).Furthergenetictestingwereprovidedtothespousesandnewbornsofthescreenedcarriers.ResultsPeripheralbloodof430pregnantwomenweredetected,detectionofdeafnessgenemutationcarriersin24cases(4.2%),including13casesoftheGJB2heterozygousmutation,3casesofSLC26A4heterozygousmutation,1casesofGJB3heterozygousmutation,and1caseofmitochondrial12SrRNAmutation.18spousesand17newbornstookfurthergenetictests,and6newbornsinheritedthemutationfromtheirmother.ConclusionThecommondeafnessgenesmutationhasahighcarrierrateinpregnantwomengroup,235delCandIVS7-2A>Gheterozygousmutationsarecommon.

1. the genetic deafness in chinese population.耳鼻咽喉科,2006-01.
2Xuezhong Liu. Cochlear implants in genetic deafness.耳鼻咽喉科,2014-04.
3张贺龙;王文亮;崔大祥. DETECTION OF GENE MUTATION IN SPUTUM OF LUNG CANCER PATIENT.肿瘤,1999-01.
4刘成龙;鞍安民;等. Detection of gene expression pattern in the earyly stage after spinal cord injury by gene chip.临床医学,2003-01.
5. cochlear homeostasis and its role in genetic deafness.耳鼻咽喉科,2009-01.
6Wang Xiu-Wen,Lu Ling-Yun,Xie Ying,Yu Xi-Jie. A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection.医药卫生,2020-08.
7Hong-Xia Tian;Xu-Chao Zhang;Zhen Wang;Jian-Guang Chen;Shi-Liang Chen;Wei-Bang Guo;Yi-Long Wu. Establishment and application of a multiplex genetic mutation-detection method of lung cancer based on MassARRAY platform.肿瘤,2016-01.
8AI GUO LI. Understanding the transcriptional control of gene expression using ChIP-chip technology.基础医学,2005-04.
9Yun-Hao Chen;Hui-Ying Xu;Zhang-Yang Wang;Zhe-Hui Zhu;Cheng-Di Li;Zhi-Gang Wu;Bi-Cheng Chen. An insertion mutation in the androgen receptor gene in a patient with azoospermia.泌尿科学,2015-05.
10Chen Liu;Guangbing Li;Rongrong Chen;Xiaobo Yang;Xue Zhao;Haitao Zhao. A novel PTEN gene promoter mutation and untypical Cowden syndrome.肿瘤,2013-03.

APPLICATION OF GENETIC DEAFNESS GENE CHIP FOR DETECTION OF GENE MUTATION OF DEAFNESS IN PREGNANT WOMEN

来源期刊

相关推荐

同分类资源更多

相关关键词

APPLICATION OF GENETIC DEAFNESS GENE CHIP FOR DETECTION OF GENE MUTATION OF DEAFNESS IN PREGNANT WOMEN

来源期刊

相关推荐

同分类资源 更多

相关关键词

同分类资源更多