基因诊断与基因治疗概论课件gene_d_t_08-3

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1、基因诊断与基因治疗概论（3）GeneDiagnosisandGeneTherapyAnIntroductiontoFanLemingAthrosclerosisResearchCenterNanjingMedicalUniversityCONTENTS内容Introduction—WhydogenediagnosisandtherapyConception—WhatisgenediagnosisandtherapyMethodology—HowdogenediagnosisandtherapyClinicalApplicationsIntrodu

2、ction—WhydogenediagnosisandtherapyConception—WhatisgenediagnosisandtherapyMethodology—HowdogenediagnosisandtherapyClinicalApplicationsPartIGeneDiagnosis—HowdogenediagnosisandtherapyMethodology方法学：基因诊断Diseaseisrelatednotonlytothestructureofgenebutalsotothetranscriptionortransl

3、ationlevelGenediagnosismayputinpracticeby:1.DNAdiagnosis2.RNAdiagnosis3.FluorescenceinsituHybridization(FISH)4.Genechiptoanalyzethestructureofgenetomeasuretheexpressionofgenetodetectdeletionoflargefragmenttodetectmultiplemutationsimultaneously基因诊断常用方法Diseaseisrelatednotonlyto

4、thestructureofgenebutalsotothetranscriptionortranslationlevelGenediagnosismayputinpracticeby:1.DNAdiagnosis2.RNAdiagnosis3.FluorescenceinsituHybridization(FISH)4.Genechip基因诊断常用方法Genediagnosis1TheabnormalstructureofgenemaybedetectedatDNAleveldirectly.Ifthepathogenicgeneoritsst

5、ructureandthedetailsofmutationisuncertain,itisnecessarytojudgetheexistenceofpathogenicgeneindirectlybymeansofgeneticmarkers.SuchmeansiscalledLinkageanalyses.TheinfectiousdiseasemaybediagnosedbydetectingtheexogenousDNAofpathogen.1.DNADiagnosisDNA诊断Directdetectionofknowngenemut

6、ationRestrictionfragmentanalysis,etc.TheabnormalstructureofgenemaybedetectedatDNAleveldirectly.Ifthepathogenicgeneoritsstructureandthedetailsofmutationisuncertain,itisnecessarytojudgetheexistenceofpathogenicgeneindirectlybymeansofgeneticmarkers.SuchmeansiscalledLinkageanalyse

7、s.TheinfectiousdiseasemaybediagnosedbydetectingtheexogenousDNAofpathogen.LinkageAnalysisRestrictionfragmentlengthpolymorphism1.DNADiagnosisDNA诊断TheabnormalstructureofgenemaybedetectedatDNAleveldirectly.Ifthepathogenicgeneoritsstructureandthedetailsofmutationisuncertain,itisne

8、cessarytojudgetheexistenceofpathogenicgeneindirectlybymeansofgenetic