A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations 英文参考文献.docVIP

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A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations 英文参考文献.doc

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A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations 英文参考文献

ASystematicApproachtoMappingRecessiveDisease GenesinIndividualsfromOutbredPopulations FriedhelmHildebrandt1,2,3*,SaskiaF.Heeringa1,FranzRu¨schendorf4,MassimoAttanasio1 ,Gudrun Nu¨rnberg5,6,ChristianBecker5,6,DominikSeelow5,6,7,NorbertHuebner8,GilChernin1,ChristopherN. Vlangos1,WeibinZhou1,JohnF.O’Toole1,BethanE.Hoskins1,MatthiasT.F.Wolf1,BernwardG. Hinkes1,HassanChaib1,ShaziaAshraf1,DominikS.Schoeb1,BugsuOvunc1,SusanJ.Allen1 ,Virginia Vega-Warner1,EricWise1,HeatherM.Harville1,2,RobertH.Lyons2,JosephWashburn9 ,James MacDonald1,9,PeterNu¨rnberg5,6,EdgarA.Otto1 1DepartmentofPediatrics,UniversityofMichiganSchoolofMedicine,AnnArbor,Michigan,UnitedStatesofAmerica,2DepartmentofHumanGenetics,Universityof MichiganSchoolofMedicine,AnnArbor,Michigan,UnitedStatesofAmerica,3HowardHughesMedicalInstitute,UniversityofMichiganSchoolofMedicine,AnnArbor, Michigan,United StatesofAmerica,4Max-Delbru¨ckCenter forMolecular Medicine,Berlin,Germany,5Cologne Center for Genomics,UniversityofCologne,Cologne, Germany, 6Institute for Genetics, University of Cologne, Cologne, Germany, 7Department of Neuropaediatrics, Charite, Berlin, Germany, 8Department of Pediatrics, Charite,Berlin,Germany,9UniversityofMichiganCancerCenter,AnnArbor,Michigan,UnitedStatesofAmerica Abstract The identification of recessive disease-causing genes by homozygosity mapping is often restricted by lack of suitable consanguineous families. To overcome these limitations, we apply homozygosity mapping to single affected individuals fromoutbredpopulations.In72individualsof54kindredascertainedworldwidewithknownhomozygousmutationsin13 differentrecessivediseasegenes,weperformedtotalgenomehomozygositymappingusing250,000SNParrays.Likelihood ratioZ-scores(ZLR)wereplottedacrossthegenometodetectZLRpeaksthatreflectsegmentsofhomozygositybydescent, whichmayharborthemutatedgene.In93%ofcases,thecausativegenewaspositionedwithinaconsistentZLRpeakof homozygosity.Thenumberofpeaksreflectedthedegreeofinbreeding.Wedemonstratethatdisease-ca