27 an introduction to genetic analysis.docx
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27 an introduction to genetic analysis.docx
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27anintroductiontogeneticanalysis
AAdenineoradenosine.
abortivetransductionThefailureofatransducingDNAsegmenttobeincorporatedintotherecipientchromosome.
acentricchromosomeAchromosomehavingnocentromere.
achondroplasiaAtypeofdwarfisminhumans,inheritedasanautosomaldominantphenotype.
acrocentricchromosomeAchromosomehavingthecentromerelocatedslightlyneareroneendthantheother.
activesiteThepartofaproteinthatmustbemaintainedinaspecificshapeiftheproteinistobefunctional—forexample,inanenzyme,theparttowhichthesubstratebinds.
adaptationIntheevolutionarysense,someheritablefeatureofanindividual'sphenotypethatimprovesitschancesofsurvivalandreproductionintheexistingenvironment.
adaptivelandscapeThesurfaceplottedinathree-dimensionalgraph,withallpossiblecombinationsofallelefrequenciesfordifferentlociplottedintheplaneandwithmeanfitnessforeachcombinationplottedinthethirddimension.
adaptivepeakAhighpoint(perhapsoneofseveral)onanadaptivelandscape;selectiontendstodrivethegenotypecompositionofthepopulationtowardacombinationcorrespondingtoanadaptivepeak.
adaptivesurfaceSeeadaptivelandscape.
adaptorproteinAproteinthatbindstocertainspecificphosphorylatedaminoacidsequencesonasecondprotein,oftenatransmembranereceptor,andassociateswithstillotherproteins,therebyallowingacomplexofproteinsto“dock”tothereceptor.Thisdockingbringsproteinsofthiscomplexinproximitytooneanotherand,bydoingso,permitspropagationofanintracellularsignalinasignaltransductionpathway.
additivegeneticvarianceGeneticvarianceassociatedwiththeaverageeffectsofsubstitutingonealleleforanother.
adenineApurinebasethatpairswiththymineintheDNAdoublehelix.
adenosineThenucleosidecontainingadenineasitsbase.
adenosinetriphosphateSeeATP.
adjacentsegregationInareciprocaltranslocation,thepassageofatranslocatedandanormalchromosometoeachofthepoles.
ADPAdenosinediphosphate.
AlaAlanine(anaminoacid).
albinoApigmentless“white”phenotype,determinedbyamutationinagenecodingforapigment-synthesizingenzyme.
alkylatingagentAchemicalagentthatcanaddalkylgroups(forexample,ethylormethylgroups)toanothermolecule;manymutagensactthroughalkylation.
alleleOneofthedifferentformsofagenethatcanexistatasinglelocus.
allelefrequencyAmeasureofthecommonnessofanalleleinapopulation;theproportionofallallelesofthatgeneinthepopulationthatareofthisspecifictype.
allopatricspeciationTheprocessofthesplittingofaspeciesintotwoormorenewspeciesthatoccursbetweenpopulationsthataregeographicallyisolatedfromeachother.
allopolyploidSeeamphidiploid.
allosterictransitionAchangefromoneconformationofaproteinintoanother.
alternatesegregationInareciprocaltranslocation,thepassageofbothnormalchromosomestoonepoleandbothtranslocatedchromosomestotheotherpole.
alternationofgenerationsThealternationofgametophyteandsporophytestagesinthelifecycleofaplant.
alternativesplicingTheprocessbywhichdifferentmRNAsareproducedfromthesameprimarytranscript,throughvariationsinthesplicingpatternofthetranscript.MultiplemRNA“isoforms”canbeproducedinasinglecellorthedifferentisoformscandisplaydifferenttissue-specificpatternsofexpression.IfthealternativeexonsfallwithintheopenreadingframesofthemRNAisoforms,differentproteinswillbeproducedbythealternativemRNAs.
ambercodonThecodonUAG,anonsensecodon.
ambersuppressorAmutantallelecodingforatRNAwhoseanticodonisalteredinsuchawaythatthetRNAinsertsanaminoacidatanambercodonintranslation.
AmestestAwidelyusedtesttodetectpossiblechemicalcarcinogens;basedonmutagenicityinthebacteriumSalmonella.
aminoacidApeptide;thebasicbuildingblockofproteins(orpolypeptides).
amniocentesisAtechniquefortestingthegenotypeofanembryoorfetusinuterowithminimalrisktothemotherorthechild.
AMPAdenosinemonophosphate.
amphidiploidAnallopolyploid;apolyploidformedfromtheunionoftwoseparatechromosomesetsandtheirsubsequentdoubling.
amplificationTheproductionofmanyDNAcopiesfromonemasterregionofDNA.
anaphaseAnintermediatestageofnucleardivisionduringwhichchromosomesarepulledtothepolesofthecell.
aneuploidcellAcellhavingachromosomenumberthatdiffersfromthenormalchromosomenumberforthespeciesbyasmallnumberofchromosomes.
animalbreedingThepracticalapplicationofgeneticanalysisfordevelopmentoflinesofdomesticanimalssuitedtohumanpurposes.
annealingSpontaneousalignmentoftwosingleDNAstrandstoformadoublehelix.
antibodyAprotein(immunoglobulin)molecule,producedbytheimmunesystem,thatrecognizesaparticularsubstance(antigen)andbindstoit.
anticodonAnucleotidetripletinatRNAmoleculethatalignswithaparticularcodoninmRNAundertheinfluenceoftheribosomesothattheaminoacidcarriedbythetRNAisinsertedinagrowingproteinchain.
antigenAmoleculethatisrecognizedbyantibody(immunoglobulin)molecules.Generally,multipleantibodymoleculescanrecognizeagivenantigen.
antiparallelAtermusedtodescribetheoppositeorientationsofthetwostrandsofaDNAdoublehelix;the5′endofonestrandalignswiththe3′endoftheotherstrand.
APsiteApurinicorapyrimidinicsiteresultingfromthelossofapurineorpyrimidineresiduefromtheDNA.
ArgArginine(anaminoacid).
ascosporeAsexualsporefromcertainfungusspeciesinwhichsporesarefoundinasaccalledanascus.
ascusInfungi,asacthatenclosesatetradoranoctadofascospores.
asexualsporeSeespore.
AsnAsparagine(anaminoacid).
AspAspartate(anaminoacid).
ATP(adenosinetriphosphate)The“energymolecule”ofcells,synthesizedmainlyinmitochondriaandchloroplasts;energyfromthebreakdownofATPdrivesmanyimportantcellreactions.
attachedXApairofDrosophilaXchromosomesjoinedatoneendandinheritedasasingleunit.
attenuatorAregionadjacenttothestructuralgenesofthetrpoperon;thisregionactsinthepresenceoftryptophantoreducetherateoftranscriptionfromthestructuralgenes.
autonomouscontrollingelementAcontrollingelementthatseemstohavebothregulatorandreceptorfunctionscombinedinasingleunitthatentersageneandcausesanunstablemutation.
autonomousphenotypeAgenetictraitinmulticellularorganismsinwhichonlygenotypicallymutantcellsexhibitthemutantphenotype.Conversely,anonautonomoustraitisoneinwhichgenotypicallymutantcellscauseothercells(regardlessoftheirgenotype)toexhibitamutantphenotype.
autonomousreplicationsequence(ARS)AsegmentofaDNAmoleculeneededfortheinitiationofitsreplication;generallyasiterecognizedandboundbytheproteinsofthereplicationsystem.
autophosphorylationTheprocessbywhichaproteinkinasephosphorylatesspecificaminoacidresiduesonitself.
autopolyploidApolyploidformedfromthedoublingofasinglegenome.
autoradiogramApatternofdarkspotsinadevelopedphotographicfilmoremulsion,inthetechniqueofautoradiography.
autoradiographyAprocessinwhichradioactivematerialsareincorporatedintocellstructures,whicharethenplacednexttoafilmorphotographicemulsion,thusformingapatternonthefilmcorrespondingtothelocationoftheradioactivecompoundswithinthecell.
autoregulatoryloopTheprocessbywhichtheexpressionofageneiscontrolledbyitsowngeneproduct.
autosomeAnychromosomethatisnotasexchromosome.
auxotrophAstrainofmicroorganismsthatwillproliferateonlywhenthemediumissupplementedwithsomespecificsubstancenotrequiredbywild-typeorganisms.
B
BACBacterialartificialchromosome;anFplasmidengineeredtoactasacloningvectorthatcancarrylargeinserts.
backmutationSeereversion.
bacteriophage(phage)Avirusthatinfectsbacteria.
balancedpolymorphismStablegeneticpolymorphismmaintainedbynaturalselection.
balancerAchromosomewithmultipleinversions,usedtoretainfavorableallelecombinationsintheuninvertedhomolog.
BalbianiringAlargechromosomepuff.
BarrbodyAdenselystainingmassthatrepresentsaninactivatedXchromosome.
baseanalogAchemicalwhosemolecularstructuremimicsthatofaDNAbase;becauseofthemimicry,theanalogmayactasamutagen.
beadtheoryThedisprovedhypothesisthatgenesarearrangedonthechromosomelikebeadsonanecklace,indivisibleintosmallerunitsofmutationandrecombination.
bimodaldistributionAstatisticaldistributionhavingtwomodes.
binaryfissionTheprocessinwhichaparentcellsplitsintotwodaughtercellsofapproximatelyequalsize.
biparentalzygoteAChlamydomonaszygotethatcontainscpDNAfrombothparents;suchcellsaregenerallyrare.
blastcellAcellthatdivides,generallyasymmetrically,togiverisetotwodifferentprogenycells.Oneisablastcelljustliketheparentalcellandtheotherisacellthatentersadifferentiationpathway.Inthismanner,acontinuouslypropagatingcellpopulationcanmaintainitselfandspinoffdifferentiatingcells.
blastodermInaninsectembryo,thelayerofcellsthatcompletelysurroundsaninternalmassofyolk.
blastulaAnearlydevelopmentalstageoflowervertebrateembryos,inwhichtheembryoconsistsofasinglelayerofcellssurroundingthecentralyolk.
blendinginheritanceAdisc
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