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时间:2020-04-22
《基因拷贝数定量检测在缺失型α-地贫快速诊断中的应用-论文.pdf》由会员上传分享,免费在线阅读,更多相关内容在应用文档-天天文库。
1、·222·分子诊断与治疗杂志2014年7月第6卷第4期JMolDiagnTher,July2014,Vo1.6No.4●论著·基因拷贝数定量检测在缺失型一地贫快速诊断中的应用胥顺,周万军s牟毅2程钢[摘要]目的探讨目的基因拷贝数定量检测方法在缺失型IX一地中海贫血快速诊断中的应用。方法采用四重荧光定量PCR方法检测l385例.地中海贫血样本的0【珠蛋白基因拷贝数.同时用gap—PCR法进行平行对照检测,对结果不符样本采用MLPA法进行确认。结果1385例临床样本中,本方法检出IXIX/IXOt型531例、仅./ixix型168例、一Ix/~ix型93例、d./.型7例、一Ix/
2、一0【型2例、一/ixix型558例、一/仪一型l3例、⋯/IX型l1例、一/一型2例;其中与gap.PCR法结果不符的样本9例.MLPA复核结果显示5例检测结果一致、4例与多重荧光定量PCR结果不一致;拷贝数定量PCR法检测准确度达到99.71%,与gap—PCR检测符合率达到99.35%。结论IX珠蛋白基因拷贝数定量PCR法能快速准确检测缺失型仪.地中海贫血,适合大规模人群的缺失型IX.地贫基因携带筛查。[关键词]IX地中海贫血;基因拷贝数;荧光定量PCRApplicationofgeneticcopynumberquantificationforrapiddiagnosi
3、sofalpha-thalassaemiadeletionXUShun.-,ZHOUWanjun3.MOUYi2.C腿NGGang,(1.SchoolofPharmaceuticalSciences,SunYat—senUniversity,Guangdong,Guangzhou510006,China;2.GuangzhouDaRuiAntibodyEngineeringTechnologyCo.,LTD.,Guangdong,Guangzhou510665,China;3.TheDepartmentofMedicalGenetics,SchoolofBasicMedical
4、Sciences。SouthemMedicalUniversity,Guangdong,Guangzhou510515,China;4.DaAnGeneCo.,LTD.ofSunYat—senUniversity,Guangdong,Guangzhou510665,China)[ABSTRACT]ObjectiveTodiscusstheappScationofquantitativedetectionofHBAcopynumberinrapiddetectionofalpha-thalassaemiadeletion.MethodsTheHBAcopynumberwerede
5、tectedbymultiplexqPCRin1385clinicalsamples,whilethedeletionalgenetypeswereparalleldetectedbygap—PCR,andthediferentresultswiththetheformertwomethodswereconfirmedbyMLPA.ResultsIn1385casesofclinicalsamples,therewere531caseswithIXIX/IXIX,168caseswithIX一/ixix,93caseswith—Ix/ixix,7caseswithOt-/ix一
6、,2caseswith—Ix/一,558caseswith一一/ixix,13caseswith⋯/ix,l1caseswith⋯/0【,2caseswith⋯/一;and9caseswereinconsistentwiththegap—PCR.TheMLPAresultsshowedthat5caseswerecompletelyconformedbymultiplexqPCR,andfourcasessamplesdidnotmatch;thetrueaccuracywas99.71%,andthecoincidenceratewas99.35%comparedwithth
7、egap—PCR.ConclusionTheHBAcopynumberofmultiplexqPCRmethod,whichisrapidlyandaccuratelytodetectthealpha—thalassaemia,issuitableforlargescalepopulationscreening.[KEYWORDS]Alpha—thalassaemia;HBAcopynumber;Mul卸leqPCR基金项目:国家科技部863计划(2011AA02A109)作者单位:1.中山
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