最新Overview of Newborn Screening Molecular Assays：新生儿筛查分子检测技术概述-药学医学精品资料.ppt

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1、最新OverviewofNewbornScreeningMolecularAssays：新生儿筛查分子检测技术概述-药学医学精品资料OutlineIntroductiontomoleculartestingforgeneticdiseasesBriefhistoryofmoleculartestinginNBSWhen&whytouseamoleculartestAvailabilityofNBSmoleculartestsindifferentstatesPotentialfutureapplicationsGeneticVariationinHu

2、mansHumangenomeis99.9%identicalacrossallpeople~3millionnucleotidedifferencesbetween2randomindividualsMutation=AnychangeintheDNAsequenceMutationsarethesourceofdifferencesbetweenindividualsClassesofSingleGeneDisordersAutosomalDominantOnecopyofamutatedalleleresultsinaffectedindivi

3、dualaka:AAorAaHeterozygotesandHomozygousDominantIndividualsareaffected.e.g.Achondroplasia,Huntington’sDiseaseAutosomalRecessiveBothallelesofthegenemustbemutatedtobeaffectedaka:aaOnlyHomozygousRecessiveindividualsareaffected.e.g.SickleCellAnemia,cysticfibrosis,galactosemiaClasse

4、sofSingleGeneDisordersX-linkedRecessiveMalesaffectedifXchromosomeisdefectiveFemalesaffectedonlyifbothXchromosomesaredefectivee.g.Duchennemusculardystrophy&HemophiliaX-linkedDominantIndividualswith1defectivecopyofXchromosomeareaffectede.g.RettsyndromeY-linkedIndividualswithadefe

5、ctiveYchromosomeareaffectedRareComplex/MultifactorialDisordersAssociatedwiththeeffectsofmultiplegenesMaybestronglyimpactedbyenvironmentalfactors(e.g.lifestyle)OftenclusterinfamiliesNoclear-cutpatternofinheritanceDifficulttodetermineriske.g.heartdisease,diabetes,obesity,cancerMo

6、lecularTestingforGeneticDiseasesEnabledbygenemappingtoidentifylocationofgenesonchromosomesANDabilitytodifferentiatebetweenharmfulandneutralmutationsGoal–identificationofdisease-causingmutationsfor:Diagnosis–e.g.MCADDPredictivetesting–e.g.Huntington’sDisease,BRCA1Carrierdetectio

7、n–e.g.CysticFibrosisPrenatalscreening–e.g.Trisomy21Preimplantationtesting–e.g.SickleCellAnemiaPharmacogenetics–e.g.PKUAvailabilityofGeneticTests599Laboratoriesofferingin-housemoleculargenetictesting,specializedcytogenetictesting,andbiochemicaltestingforinheriteddisorders2334Dis

8、eases2072ClinicalLabs262ResearchLabsGeneTESTS:Availabi