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CHAPTER18

MolecularBiologyandMedicineChapter18:MolecularBiologyandMedicineProteinasPhenotypeMutationsandHumanDiseasesDetectingHumanGeneticVariationsCancer:ADiseaseofGeneticChangesTreatingGeneticDiseasesSequencingtheHumanGenomeProteinasPhenotypeInmanyhumangeneticdiseases,asingleproteinismissingornonfunctional.Therefore,theone-gene,one-polypeptiderelationshipappliestohumangeneticdiseases.ReviewFigure3ProteinasPhenotypeAmutationinasinglegenecausesalterationsinitsproteinproductthatmayleadtoclinicalabnormalitiesorhavenoeffect.ReviewFigure5ProteinasPhenotypeSomediseasesarecausedbymutationsthataffectstructuralproteins.7ProteinasPhenotypeGenesthatcodeforreceptorsandmembranetransportproteinscanalsobemutatedandcauseotherdiseases.ReviewFigure8Figure18.3–Part1Figure18.3–Part2ProteinasPhenotypePriondiseasesarecausedbyaproteinwithanalteredshapetransmittedfromonepersontoanotherandalteringthesameproteininthesecondperson.11ProteinasPhenotypeFewhumandiseasesarecausedbyasingle-genemutation.Mostarecausedbyinteractionsofmanygenesandproteinswiththeenvironment.12ProteinasPhenotypeHumangeneticdiseasesshowdifferentinheritancepatterns.Mutantallelesmaybeinheritedasautosomalrecessives,autosomaldominants,X-linkedconditions,orchromosomalabnormalities.13MutationsandHumanDiseasesMolecularbiologytechniqueshavemadepossibletheisolationofmanygenesresponsibleforhumandiseases.14MutationsandHumanDiseasesOnemethodofidentifyingthegeneresponsibleforadiseaseistoisolatethemRNAfortheproteininquestionandusethemRNAtoisolatethegenefromagenelibrary.DNAfromapatientlackingapieceofachromosomecanbecomparedtothatofapersonnotshowingthisdeletiontoisolateamissinggene.ReviewFigure15MutationsandHumanDiseasesInpositionalcloning,DNAmarkersareusedtopointthewaytoagene.Markersmayberestrictionfragmentlengthpolymorphismslinkedtoamutantgene.ReviewFigure17MutationsandHumanDiseasesHumanmutationsrangefromsinglepointmutationstolargedeletions.Somecommonmutationsoccurwherethemodifiedbase5-methylcytosineisconvertedtothymine.ReviewFigure,Table119MutationsandHumanDiseasesEffectsofthefragile-Xchromosomeworsenwitheachgeneration.Thispatterniscausedbyatripletrepeatthattendstoexpandwitheachgeneration.ReviewFigure21figure18-09MutationsandHumanDiseasesGenomicimprintingresultsinagenebeingdifferentiallyexpresseddependingonwhichparentitcomesfrom.23DetectingHumanGeneticVariationsGeneticscreeningdetectshumangenemutations.Someproteinabnormalitiescanbedetectedbytestsforthepresenceofexcesssubstrateorlackofproduct.ReviewFigure24DetectingHumanGeneticVariationsTheadvantageoftestingDNAformutationsdirectlyisthatanycellcanbetestedatanytimeinthelifecycle.26DetectingHumanGeneticVariationsTherearetwomethodsofDNAtesting:allele-specificcleavageandallele-specificoligonucleotidehybridization.ReviewFigures,27Cancer:ADiseaseofGeneticChangesTumorsmaybebenign,growingtoacertainextentandstopping,ormalignant,spreadingthroughorgansandtootherpartsofthebody.30Cancer:ADiseaseofGeneticChangesAtleastfivetypesofhumancancersarecausedbyviruses,accountingforabout15percentofallcancers.ReviewTable31Cancer:ADiseaseofGeneticChangesEighty-fivepercentofhumancancersarecausedbygeneticmutationsofsomaticcells.Theseoccurmostcommonlyindividingcells.ReviewFigure33Cancer:ADiseaseofGeneticChangesNormalcellscontainproto-oncogenes,which,whenmutated,canbecomeactivatedandcausecancerbystimulatingcelldivisionorpreventingcelldeath.ReviewFigure35Cancer:ADiseaseofGeneticChangesAbout10percentofallcancerisinheritedasaresultofmutationoftumorsuppressorgenes,whichnormallyslowdownthecellcycle.Forcancertodevelop,bothallelesofatumorsuppressorgenemustbemutated.37Cancer:ADiseaseofGeneticChangesIninheritedcancer,anindividualinheritsonemutantalleleandsomaticmutationoccursinthesecondone.Insporadiccancer,twonormalallelesareinherited,sotwomutationaleventsmustoccurinthesamesomaticcell.ReviewFigures,38Cancer:ADiseaseofGeneticChangesMutationsmustactivateseveraloncogenesandinactivateseveraltumorsuppressorgenesforacelltoproduceamalignanttumor.ReviewFigure41TreatingGeneticDiseasesMostgeneticdiseasesaretreatedsymptomatically.Asmoreknowledgeisaccumulated,specifictreatmentsarebeingdevised.43TreatingGeneticDiseasesOnetreatmentapproachistomodifythephenotype,forexample,bymanipulatingdiet,providingspecificmetabolicinhibitorstopreventaccumulationofaharmfulsubstrate,orsupplyingamissingprotein.ReviewFigure44TreatingGeneticDiseasesIngenetherapy,amutantgeneisreplacedwithanormalone.Eithertheaffectedcellscanberemoved,thenewgeneadded,andthecellsreturnedtothebody,orthenewgenecanbeinserteddirectly.ReviewFigure46SequencingtheHumanGenomeHumangenomesequencingisdeterminingtheentirehumanDNAsequence,whichrequiressequencingmany500-base-pairfragmentsandfittingthesequencesbacktoget

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