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1、BMCGenomicsBioMedCentralResearcharticleOpenAccessAmethodforaccuratedetectionofgenomicmicrodeletionsusingreal-timequantitativePCRRosannaWeksberg†1,2,SimonHughes†3,LauraMoldovan1,AnneSBassett4,EvaWCChow4andJeremyASquire*5Address:1PrograminGeneticsandGenomi
2、cBiology,TheResearchInstitute,TheHospitalforSickChildren,Toronto,Canada,2DivisionofClinicalandMetabolicGenetics,DepartmentofPaediatrics,TheHospitalforSickChildren,Toronto,Canada,3QueenMary'sSchoolofMedicineandDentistry,London,UK,4ClinicalGeneticsResearch
3、Program,CentreforAddictionandMentalHealth,andDepartmentofPsychiatry,UniversityofToronto,Toronto,Canadaand5OntarioCancerInstituteandDepartmentofLaboratoryMedicine,PathologyandMedicalBiophysics,UniversityofToronto,Toronto,CanadaEmail:RosannaWeksberg-rweksb
4、@sickkids.ca;SimonHughes-sih3@yahoo.com;LauraMoldovan-Laura.Moldovan@sickkids.ca;AnneSBassett-Anne.Bassett@utoronto.ca;EvaWCChow-Eva.Chow@utoronto.ca;JeremyASquire*-Jeremy.Squire@utoronto.ca*Correspondingauthor†EqualcontributorsPublished:13December2005Re
5、ceived:23June2005Accepted:13December2005BMCGenomics2005,6:180doi:10.1186/1471-2164-6-180Thisarticleisavailablefrom:http://www.biomedcentral.com/1471-2164/6/180©2005Weksbergetal;licenseeBioMedCentralLtd.ThisisanOpenAccessarticledistributedunderthetermsoft
6、heCreativeCommonsAttributionLicense(http://creativecommons.org/licenses/by/2.0),whichpermitsunrestricteduse,distribution,andreproductioninanymedium,providedtheoriginalworkisproperlycited.AbstractBackground:QuantitativePolymeraseChainReaction(qPCR)isawell
7、-establishedmethodforquantifyinglevelsofgeneexpression,buthasnotbeenroutinelyappliedtothedetectionofconstitutionalcopynumberalterationsofhumangenomicDNA.Microdeletionsormicroduplicationsofthehumangenomeareassociatedwithavarietyofgeneticdisorders.Although
8、,clinicallaboratoriesroutinelyusefluorescenceinsituhybridization(FISH)toidentifysuchcrypticgenomicalterations,thereremainsasignificantnumberofindividualsinwhichconstitutionalgenomicimbalanceissuspected,basedonclinicalparam
