基因突变、多态性及疾病基因的定位和鉴定ppt课件.ppt

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1、GeneMutation,Polymorphism,GenemappingandidentificationGeneralorganizationofhumangenome20000-25000持家基因/奢侈基因Housekeepinggene:Geneswhichexpressproteinscommontoallcells,e.g.ribosomal,chromosomalandcytoskeletalproteins.(β-actin)几乎在一切体细胞中均能被表达的基因Luxurygene

2、:arethosecodingforspecializedfunctionssynthesized(usually)inlargeamountsinparticularcelltypes.特异表达的基因等位基因/基因座/基因型/表型Allele:Oneofthedifferentformsofagenepair.Ateachautosomallocusanindividualpossessedtwoalleles,oneinheritedfrommumandonefromdad.Locus:Un

3、iquechromosomallocationdefiningthepositionofanindividualgeneorDNAsequence(oftenusedasasynonymforgene).Genotype:Thecombinationofallelesthatanindividualpossesses.Phenotype:Thephysicalcharacteristicsofacellororganismasdefinedbyitsgeneticconstitution.Ast

4、rikingfeatureofnaturalpopulationsisalargeamountofvariabilitybetweenindividuals.Thisappliestoallorganismsincludinghumans.Phenotypicvariability--Differencesinobservablecharacteristics(e.g.,weight,height,eyecolor,diseasestate)causedbyinteractionsofgenet

5、icandenvironmentalfactors.Geneticvariability--Differencesingeneticmakeupofindividualsduetomutationsandpolymorphisms.Variabilityensuressomememberssurviveindifferentenvironmentalconditions.PhenotypicvariationisvitaltospeciessurvivalFromGenotypetoPhenot

6、ypeDNA(genes)CellsTissues&OrgansOrganismPopulation6-foldriskofobesity2-foldriskofobesitySensitiveGenotypeResistantGenotypeBackgroundRiskLevel(low)SensitiveGenotypeResistantGenotypeNoenvironmental‘insult’Environmental‘insult’e.g.,increasedcaloriesindi

7、etPhenotypeEnvironmentandgenotypeaffectphenotypePhenotype“begins”withinacellGenotypePhenotypeGenomicerainbiology&medicineTraditional‘reductionist’approach:Onegene/protein/reactionatatime.Test/validateisolatedmodelsatbench.New‘systemsbiology’approach:

8、AllDNA,RNA,orproteinssurveyedatonce.Test/validatemodelsexperimentallyandcomputationally.Madepossiblebyinventionofhigh-throughputapproachessuchasthemicroarraytechnology.Hashadprofoundeffectsonbiology&medicine.metabolomeproteomegenometranscriptomephysi