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时间:2019-06-17
《2725名新生儿耳聋基因热点突变的筛查分析》由会员上传分享,免费在线阅读,更多相关内容在行业资料-天天文库。
1、万方数据中华医学遗传学杂志2015年6月第32卷第3期ChinJMedGenet,June2015,V01.32,No.32725名新生儿耳聋基因热点突变的筛查分析余红刘丹杨晶群吴志强孙冬梅马卧龙【摘要】目的通过调查浙江省绍兴地区2725名新生儿中常见耳聋基因G]B2、GJB3、线粒体12SrRNA和SLC26A4的20个热点突变的携带率、突变类型及其与听力的相关性,为大规模开展聋病基因筛查提供科学依据。方法应用基质辅助激光解吸电离飞行时间质谱技术(matrix-assistedlaserdesorptionionization-timeofflight—ma
2、ssspectrometry,MALDI—TOF-MS)进行热点突变检测。结果2725名新生儿中共检测出突变149例,阳性率5.47%:其中GJB2突变84例,阳性率3.08%;GJB3突变13例,阳性率0.48%;SLC26A4突变49例,阳性率1.80%;线粒体12SrRNA突变3例,阳性率0.11%。检出突变位点共14个,突变频率由高到低依次是GJB2C.235delC65例、SLC26A4IVS7—2A>G34例、GJB2C.299—300delAT13例、GJB3C.538C>T7例、GJB2C.176—191dell66例和GJB3C.547G>A
3、6例。结论常见耳聋基因在绍兴地区新生儿中有较高的阳性率,扩大筛查位点可提高筛查阳性率和突变位点的检出率。除GJB2、线粒体12SrRNA和SLC26A4外,本地区GJB3突变亦有较高的检出率,可能在耳聋发生中起重要作用。【关键词】耳聋基因;突变位点;筛查Analysisofcommonmutationsofdeafness-relatedgenesin2725newborns‘YuHong1,LiuDan1,YangJingqunl,肌Zhiqiang2,SunDongmei2,MaWolong2.1(DepartmentofChildren’SHealthC
4、are,MaternalandChildHealthCareHospital,Shaoxing,Zhejiang312000,P.R.China);2(HangzhouGenomicsInstitute,KeyLaboratoryofBioinformaticsofZhejiangProvince,Hangzhou,铂ejiang310007,P.R.China)CorrP5户o,2di竹gauthor:yMHong,Email:sxyuh@126.COrn[Abstract]ObjectiveToscreenforcommonmutationsofdeafn
5、ess—relatedgenesinordertodeterminethecarrierrate,typesofmutation,andtheirrelevancetohearingloss.MethodsFor4deafness—relatedgenesGJB2,GJB3,12SrRNAandSLC26A4,20commonmutationswerescreenedamong2725newbornsfromShaoxing。Zhejiangbymatrix-assistedlaserdesorptionionization—timeofflight—mass
6、spectrometry.ResultsAmongthe2725newborns,149(5.47%)werediagnosedwithmutations,whichincluded84(3.08%)withGJB2mutations,13(o.48%)withGJB3mutations,49(1.80%)withSLC26A4mutationsand3(0.11%)with】2SrRNAmutations.Fourteenmutationalhotspotswereidentified.Themostcommonmutationshaveincluded甜B
7、2C.235delC(65cases),SLC26A41VS7—2A>G(34cases),GJB2C.299—300delAT(13cases),GJB3C.538C>T(7cases),GJB2C.176—191dell6(6cases)andGJB3C.547G>A(6cases).ConclusionThedetectingratefordeafness—relatedgenemutationshasbeenrelativelyhigh.Tobroadenthescreeningspectrummayimprovesuchrate.BesidesGJB
8、2,12SrRNA,SL(、26A4,
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