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文档分类:医学/心理学

"Maximum Likelihood Haplotyping for General Pedigrees.".ppt


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"Maximum Likelihood Haplotyping for General Pedigrees.".ppt
文档介绍:
"eneralPedigrees."FishelsonM.,DovgolevskyN.andGeigerD.HumanHeredity,iclinkage:basicdefinitionsSuperlink:putationorderSolvingproblemviaElim-MaxExperimentalresultsHumanGenomeMosthumancellscontain46chromosomes:2sexchromosomes(X,Y): XY–inmales. XX–infemales.22pairsofchromosomes,namedautosomes.icInformationGene–icinformation.heinheritedcharacteristics.Genome–icinformation.Chromosomes–storageunitsofgenes.GenotypeVs.PhenotypeGenotype-onstitutionofanindividual,inheritedinstructionsitcarries,whichmayormaynotbeexpressed.Phenotype-anism(suchasmorphology,development,orbehavior)‏icmarker–aknownDNAsequence,variation,whichmayariseduetomutationoralterationinthegenomicloci,thatcanbeobserved.Maybeshort(SNP)orlongone(minisatellites)‏Locus–locationofmarkers-fixedpositiononachromosomeAllele–onevariantformofamarker.Locus1PossibleAlleles:A1,A2Locus2PossibleAlleles:B1,B2,B3Alleles-theABO(Bloodtypes)locusexampleMultiplealleles:A,B,O.OisrecessivetoA.BisdominantoverO.AandBarecodominant.O/OOA/BABB/B,B/OBA/A,A/OAGenotypePhenotypeMendel’sfirstlawCharactersarecontrolledbypairsofgeneswhichseparateduringtheformationofthereproductivecells(meiosis)‏AaAaSexualReproductionzygotegametesspermeggMeiosisMendel’ssecondlawWhentwoormorepairsofgenessegregatesimultaneously,theydosoindependently.Aa;BbABAbaBabPAB=PAPBPAb=PAPbPaB=PaPBPab=PaPb
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  • 文件大小1.23 MB
  • 时间2020-06-03