niemann pick disease sanford modifiedppt尼曼桑福德modifiedppt皮克病的诊断课件

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1、DiagnosingNiemannPickdisease,TypeCMODIFIEDFROMASLIDESHOWDevelopedbytheSanfordPROMISETheSanfordPROMISEProgramfortheMidwestInitiativeinScienceExplorationTheCaseYoursummerjobisasinterninageneticslabataMountBlueberryChildren’shospital.Adoctorcomestoyourteamandsaysthathehasa

2、familyinwhichhesuspectsthreecousinsallhaveNiemann-PicktypeCdisease.Thefamilywouldliketoknow:1)DothechildrenindeedhaveNiemann-PicktypeC?2)whataretherisksoffuturechildreninthefamilydevelopingthedisease?NiemannPickTypeCNiemann-Pickdiseaseisaninheritedconditioninwhichpatien

3、tshaveabnormallipidmetabolismcausingharmfulamountsoflipidstoaccumulateinthespleen,liver,lungs,bonemarrow,andbrain.CausedbymutationsingenesNPC1,NPC2,SMPD1NPC1mutationsaccountfor95%oftypeCcases.VideoofLysosomalStorageDiseasesPart1–PolymeraseChainReaction(PCR)PCRisatechniq

4、ueusedtoamplifyspecificregionsofDNAStartwithonemoleculeofdoublestrandedpatientDNAandgenerate2afteronecycleExponentialincreaseinDNASLIDEFROMSLIDESHOWBYKIMFOGLIAhttp://biology200.gsu.edu/houghton/4564%20'04/figures/lecture%204/pcranimatie.gifPCRmoviePCRprimersTheprimersar

5、ecritical!needtoknowabitofsequencetomakeproperprimersprimerscanbrackettargetsequencestartwithlongpieceofDNA©aspecifiedshortersegmentprimersdefinesectionofDNAtobecloned20-30cycles3steps/cycle30sec/stepSLIDEFROMSLIDESHOWBYKIMFOGLIAPolymeraseChainReaction(PCR)Whatisint

6、hePCRreactionmix?DNASamplePCRRxnMixThermocyclerPolymeraseChainReaction(PCR)WhatisinthePCRreactionmix?DNASamplePCRRxnMixThermocyclerPCRprocessWhatdoyouneedtodo?intube:DNA,DNApolymeraseenzyme,primer,nucleotidesdenatureDNA:heat(90°C)DNAtoseparatestrandsannealDNA:cooltohybr

7、idizewithprimers&buildDNA(extension)Whatdoes90°CdotoourDNApolymerase?playDNAimovieSLIDEFROMSLIDESHOWBYKIMFOGLIAThepolymeraseproblemHeatDNAtodenature(unwind)it90°CdestroysDNApolymerasehavetoaddnewenzymeeverycyclealmostimpractical!Needenzymethatcanwithstand90°C…Taqpoly

8、merasefromhotspringsbacteriaThermusaquaticusKaryMullisdevelopmentofPCRtechniqueacopyingmachineforDNA1985

9、1993S