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1、分子生物学进展郑芳MD.,Ph.D.教授,博士生导师,天津医科大学20091IntroductiontoMolecularDiagnostics2PresentationOutlineConceptofMolecularDiagnosticsHistoryofMolecularDiagnosticsImpactonHumanDiseasesBasisforMolecularAssayManagementofthecourse31.MolecularDiagnosisMoleculardiagnosisofhumandisordersisreferredtoasthedetectio
2、nofthevariouspathogenicmutationsinDNAand/orRNAsamplesinordertofacilitatedetection,diagnosis,sub-classification,prognosis,andmonitoringresponsetotherapy.41.MolecularDiagnosticsTheuseofmolecularbiologytechniquestoexpandscientificknowledgeofthenaturalhistoryofdiseases,identifypeoplewhoareatriskfo
3、racquiringspecificdiseases,anddiagnosehumandiseasesatthenucleicacidlevel.51.MolecularDiagnosticsMoleculardiagnosticscombineslaboratorymedicinewiththeknowledgeandtechnologyofmoleculargeneticsandhasbeenenormouslyrevolutionizedoverthelastdecades,benefitingfromthediscoveriesinthefieldofmolecularbi
4、ology.6TheinformationrevolutioninmolecularbiologyispermeatingeveryaspectofmedicalpracticeTherateofdiseasegenediscoveryisincreasingexponentially,whichfacilitatestheunderstandingdiseasesatmolecularlevelMolecularunderstandingofdiseaseistranslatedintodiagnostictesting,therapeutics,andeventuallypre
5、ventivetherapies1.MolecularDiagnostics:Emergence71.MolecularDiagnostics:SignificanceTofacethenewcentury,themedicalpractitionernotonlyunderstandmolecularbiology,butmustalsoembracetheuseofthisrapidlyexpandingbodyofinformationinhismedicalpractice,whetherpracticingfamilymedicine,oncology,obstetric
6、sandgynecology,pathology,oranyothermedicalspecialty.8TointroduceessentialconceptsinmoleculardiagnosticsthatimpactontheidentificationofnovelmarkersofhumandiseasesTodevelopandapplyusefulmolecularassaystomonitordisease,determineappropriatetreatmentstrategies,andpredictdiseaseoutcomes.1.MolecularD
7、iagnostics:Goal92.HistoryofMolecularDiagnostics1865GregorMendel,LawofHeredity1866JohannMiescher,PurificationofDNA19531970RecombinantDNATechnology1977DNAsequencing1985InVitroAmplificationofDNA(PCR)2001TheHumanGenomeProjectWatsonandCrick,