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1、Waardenburg综合征Ⅱ型中国家系MITF基因突变分析临床研究ChineseScientificJournalofHearingandSpeechRehabiIitationWaardenburg综合征II型中国家系MITF基因突变分析MutationscreeningofMITFgeneintwoChinesefamilieswithWaardenburgsyndrometype2■杨淑芝'曹菊阳.张锐宁'刘新.刘丽贤1.张欣'康东洋.戴朴袁慧军'1'11111YANGShuzhi.CAOJuyang,ZHANGRuining
2、,LIUXin,LIULixian,ZHANGXin,KANGDongyang,DAIPU,YUANHuijun【摘要】目的探讨Waardenburg综合征lI型中国家系的临床和分子遗传学特征.方法收集两个Waardenburg综合征ll型中国家系详细的临床资料并绘制家系图谱,签署知情同意书获取血样.聚合酶链反应扩增MITF基因编码区的全部外显子,在ABI3100自动测序仪上进行正反向测序,利用GeneTool软件及遗传学网站的信息分析数据.结果Waardenburg综合征II型临床表现变异较大,不是所有的患者均满足Waardenbu
3、rg综合征ll型的诊断标准,眼睛色素分布异常(蓝虹膜)和正常的内眦间距是临床上最常见的表型特征.MITF基因第1,7号外丑子在两个家系中分别检测到一个错义突变和一个缺失突变,5O例正常对照组均未检测到这两种突变.结论本文对两个Waardenburg综合征II型家系做出分子水平的基因诊断,其详细的临床资料有助于对该综合征的进一步认识;新的基因突变位点不仅丰t了人类基因突变数据库,而且为更好地了解MITF基因的功能提供了新的线索.【关键词】Waardenburg综合征:遗传性耳聋:MITF基因:基因突变[Abstract]Objectiv
4、eToinvestigatedetailedclinicalfeaturesandmoleculargeneticalmechanismoftwoChinesefamilieswithWaardenburgsyndrometype2.Method15membersofthesetwofamilieswereinterviewedtoidentifymedicalhistoriesofhearingloss,theuseofaminoglycosidesandotherclinicalabnormalitiesbyfillingques
5、tionnaires.InformedconsentandbloodsampleswereobtainedunderprotocolsapprovedbytheChinesePLAGeneralHospitalethicscommittee.GenomicDNAwasextractedfr0meachindividualandcompleteMITFgenecodingexonswereamplifiedbyspecificPCRprimers.Directsequencingwascarriedouttoidentifythemut
6、ations.TherawdatawasanalyzedwithGeneToolsoftwareandmolecularbiologicalwebsite.ResultsWaardenburgsyndrometype2hashighlyclinicalandgeneticheterOgeneity.Theclinicalfeaturesvariedgreatlybetweenfamiliesoreveninafamily.Pigmentationabnormalityoftheirisandnormalinternalcanthusw
7、erethemainclinicalfeaturesofWaardenburgsyndrometype2.Amissensemutationandadeletionmutationweredetectedonexon1andexon7inMITFgeneinthesetwofamilies.ConclusionInthisstudy.wehaveidentifiedtwonovelmutationsinMITFgeneintwoChinesefamilieswithWaardenburgsyndrometype2.Themolecul
8、arfindingsprovidesomeopportunitytobetterunderstandthefunctionofMITFgene.[Keywords]Waardenburgsyndrome;Heredita
