基因诊断与基因治疗概论课件gene_d_t_08-3(1).ppt

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

2、sandtherapyConception—WhatisgenediagnosisandtherapyMethodology—HowdogenediagnosisandtherapyClinicalApplicationsPartIGeneDiagnosis—HowdogenediagnosisandtherapyMethodology方法学：基因诊断DiseaseisrelatednotonlytothestructureofgenebutalsotothetranscriptionortranslationlevelGenediagnosismayputinpracticeby:1.DN

3、Adiagnosis2.RNAdiagnosis3.FluorescenceinsituHybridization(FISH)4.Genechiptoanalyzethestructureofgenetomeasuretheexpressionofgenetodetectdeletionoflargefragmenttodetectmultiplemutationsimultaneously基因诊断常用方法DiseaseisrelatednotonlytothestructureofgenebutalsotothetranscriptionortranslationlevelGenediag

4、nosismayputinpracticeby:1.DNAdiagnosis2.RNAdiagnosis3.FluorescenceinsituHybridization(FISH)4.Genechip基因诊断常用方法Genediagnosis1TheabnormalstructureofgenemaybedetectedatDNAleveldirectly.Ifthepathogenicgeneoritsstructureandthedetailsofmutationisuncertain,itisnecessarytojudgetheexistenceofpathogenicgenein

5、directlybymeansofgeneticmarkers.SuchmeansiscalledLinkageanalyses.TheinfectiousdiseasemaybediagnosedbydetectingtheexogenousDNAofpathogen.1.DNADiagnosisDNA诊断DirectdetectionofknowngenemutationRestrictionfragmentanalysis,etc.TheabnormalstructureofgenemaybedetectedatDNAleveldirectly.Ifthepathogenicgeneo

6、ritsstructureandthedetailsofmutationisuncertain,itisnecessarytojudgetheexistenceofpathogenicgeneindirectlybymeansofgeneticmarkers.SuchmeansiscalledLinkageanalyses.TheinfectiousdiseasemaybediagnosedbydetectingtheexogenousDNAofpathogen.LinkageAnalysisRestrictionfragmentlengthpolymorphism1.DNADiagnosi

7、sDNA诊断TheabnormalstructureofgenemaybedetectedatDNAleveldirectly.Ifthepathogenicgeneoritsstructureandthedetailsofmutationisuncertain,itisnecessarytojudgetheexistenceofpathogenicgeneindirectlybymeansofgenetic