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1、基因診斷與基因治療概論(3)GeneDiagnosisandGeneTherapyAnIntroductiontoFanLemingAthrosclerosisResearchCenterNanjingMedicalUniversityCONTENTS內(nèi)容Introduction—WhydogenediagnosisandtherapyConception—WhatisgenediagnosisandtherapyMethodology—HowdogenediagnosisandtherapyClinicalApplicationsIntroduction—Whydogenediagnosi
2、sandtherapyConception—WhatisgenediagnosisandtherapyMethodology—HowdogenediagnosisandtherapyClinicalApplicationsPartIGeneDiagnosis—HowdogenediagnosisandtherapyMethodology方法學(xué):基因診斷DiseaseisrelatednotonlytothestructureofgenebutalsotothetranscriptionortranslationlevelGenediagnosismayputinpracticeby:1.DN
3、Adiagnosis2.RNAdiagnosis3.FluorescenceinsituHybridization(FISH)4.Genechiptoanalyzethestructureofgenetomeasuretheexpressionofgenetodetectdeletionoflargefragmenttodetectmultiplemutationsimultaneously基因診斷常用方法DiseaseisrelatednotonlytothestructureofgenebutalsotothetranscriptionortranslationlevelGenediag
4、nosismayputinpracticeby:1.DNAdiagnosis2.RNAdiagnosis3.FluorescenceinsituHybridization(FISH)4.Genechip基因診斷常用方法Genediagnosis1TheabnormalstructureofgenemaybedetectedatDNAleveldirectly.Ifthepathogenicgeneoritsstructureandthedetailsofmutationisuncertain,itisnecessarytojudgetheexistenceofpathogenicgenein
5、directlybymeansofgeneticmarkers.SuchmeansiscalledLinkageanalyses.TheinfectiousdiseasemaybediagnosedbydetectingtheexogenousDNAofpathogen.1.DNADiagnosisDNA診斷DirectdetectionofknowngenemutationRestrictionfragmentanalysis,etc.TheabnormalstructureofgenemaybedetectedatDNAleveldirectly.Ifthepathogenicgeneo
6、ritsstructureandthedetailsofmutationisuncertain,itisnecessarytojudgetheexistenceofpathogenicgeneindirectlybymeansofgeneticmarkers.SuchmeansiscalledLinkageanalyses.TheinfectiousdiseasemaybediagnosedbydetectingtheexogenousDNAofpathogen.LinkageAnalysisRestrictionfragmentlengthpolymorphism1.DNADiagnosi
7、sDNA診斷TheabnormalstructureofgenemaybedetectedatDNAleveldirectly.Ifthepathogenicgeneoritsstructureandthedetailsofmutationisuncertain,itisnecessarytojudgetheexistenceofpathogenicgeneindirectlybymeansofgenetic