资源描述：
《DNA片段长度分析检测急性髓性白血病CEBPA基因突变.pdf》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、64中华临床医师杂志(电子版)2011年1月第5卷第1期ChinJClinicians(ElectronicEdition),January1,2011,Vo.l5,No.1论著DNA片段长度分析检测急性髓性白血病CEBPA基因突变阮国瑞牛继红李玲娣张瑶李金兰秦亚溱赖悦云刘艳荣许兰平黄晓军陈珊珊摘要目的建立检测急性髓性白血病(AML)髓系转录因子CCAAT增强子结合蛋白A(CEBPA)基因突变的快速筛查方法。方法采用聚合酶链式反应(PCR)扩增产物片段长度分析及序列分析方法检测107例初治AML患者C
2、EBPA基因全部编码区突变情况。来自同种基因移植供者的38例正常人作为对照。结果同时用测序及片段长度分析的方法检测了107例AML患者及38例正常人CEBPA突变的情况,在排除了已知的多态位点以后,在107例AML患者中筛查出22例患者存在CEBPA突变,其中4例患者存在2种CEBPA突变,18例患者存在1种CEBPA突变,而在38例正常人中没有发现CEBPA突变。与测序结果比较,片段长度分析检测CEBPA突变是敏感和有效的。结论片段长度分析是一种快速、敏感地筛查CEBPA基因突变的方法,适合常规的AML诊断。关键词白血病,粒细胞,急
3、性;CCAAT增强子结合蛋白;聚合酶链式反应;序列分析,DNADNAfragmentlengthanalysisforscreeningofCEBPAmutationsinacutemyeloidleukaemiaRUANGuorui,NIUJihong,LILingdi,ZHANGYao,LIJinlan,QINYazhen,LAIYueyun,LIUYanrong,XULanping,HUANGXiaojun,CHENShanshan.InstituteofHematology,PekingUniversity
4、PeoplesHospital,Beijing100044,ChinaCorrespondingauthor:RUANGuorui,Email:ruanguoru@ipkuph.edu.cnAbstractObjectiveToestablisharapidscreeningmethodforCEBPA(CCAATEnhancerBindingProteinalpha,CEBPA)mutations.MethodsWedetectedmutationsthroughouttheentirecodingregionoftheCE
5、BPAgenein107untreatedAMLpatientsusingpolymerasechainreaction(PCR)followedbysequenceanalysisandfragmentlengthanalysis.Thirtyeightnormaldonorsfromtheallogeneicstemcelltransplantationwereservedascontro.lResultsWeevaluatedtheapproachbyanalysing107AMLpatientand38normalsamplesby
6、bothfragmentlengthanalysisandnucleotidesequencing.TwentytwocaseswithCEBPAmutationwerefoundin107AMLpatientsafterexcludingallknownCEBPApolymorphisms.Of4CEBPAmutatedpatientshadtwomutationsand18patientshadasinglemutation.Nomutationwasfoundin38normalsamples.CEBPAmutationdetectio
7、nbyfragmentlengthanalysisissensitiveandefficientwhencomparedtonucleotidesequencing.ConclusionsWeestablishedafastandsensitiveCEBPAmutationscreeningmethodforroutineAMLdiagnostics.KeywordsLeukemia,myelocytic,acute;CCAATenhancerbindingproteinalpha;Polymerasechainreact
8、ion;Sequenceanalysis,DNA急性髓性白血病(acutemyeloidleukemia,AML)是由髓系造血干/祖细胞发生累积
