THEPRINCIPLEOFGENETICS

ByMikeBertelsen April14,1978

Althoughpublishedworksinthefieldofgeneticsarequitepopularinnationwide magazines,thenonscientistmaynotfullyunderstandthecontextsofthearticlebecausehe doesntfullyunderstandtheprinciplesofgeneticswhicharethebasisforthecomplicated studieswhicharebeingdonetoday.

OUTLINE
I.Introduction A.Thescienceofheredity B.Manystudies C.Principlesofthegeneticfield 1.Introductiontogenetics 2.DNAmolecule 3.Transferofgenetictraits II.Discussion A.Introducinggenetics 1.Todesignateinheritedresemblances 2.Assertion B.Heredity 1.Definition 2.Scientificaccomplishments a.GregorJoannMendel (1).Accomplishments (2).MendelsLaws (a.)LawofDominance (b.)LawofSegregation (c.)LawofUnitCharacter b.ThomasHuntMorgan (1.)Experiments (2.)Accomplishments (a.)Chromosomes (b.)Mitosis 3.Whyyoureyou a.Inheritedtraits (1.)Getfromparents (2.)Distantrelatives b.Bloodtype (1.)Inheritedtrait (2.)CarlLandsteiner (a.)Bloodtypes (1).A (2).B

(3).AB (4).O (b.)Aggluation c.Basicmentalintelligence (1.)Capacitytolearn (2.)Environment (a.)Specialaptitudes (b.)Developmentofskills d.Mentaltraits (1.)Illnesses (2.)Injuries (a.)Nottransmitted (b.)Occurinlifespan e.Physicaldeformities (1.)Canbetransmitted (2.)Mutations (a.)Alteredarrangement (b.)Smallexplosion (1).Revolutionaryevent (2).Geneischanged (c.)Rareevents (1).Geneisrecessive (2).Detectioneasy (d.)Radiation (1).Externalagent (2).Molecularchange (a)Ionization (b)Molecularconfiguration (3).Affectbiochemicalfunction (a)Genetichazard (b)Correctalteredcondition (3.)Sexdetermination (a.)Chromosomes (1).X (2).Y (b.)Bychance C.Toolsofheredity 1.Thecell a.Basicunitofstructure

b.Protoplasm (1).Livingstuff (2).Liquidcomposition c.Thenucleus (1).Controlcenter (2).Chromosomes (a.)46 (b.)Wheregenesarelocated 2.Mitosis a.WalterFlemming b.Celldivision (1).Chromosomespullapart (2).Replicate (a.)Biologicaladaptation (b.)Selfcopyingprocesses (3).Stability 3.Lifebegins a.Fertilizedovum b.Contributionofmotherandfather (1).Egg (2).Sperm c.Geneticmaterial (1).Passgenetictraits (2).Organicchemicals 4.Chemicalmakeup a.Nuclearprotein b.Carbohydrates,lipids,andproteins c.FredrichMischer (1).Isolatedsubstance (a.)Notearlierknown (b.)Acidproperties (2).Chemicaloflife D.DNA 1.Constituentofchromosomes 2.Hereditymaterial 3.Structure a.Doublehelix b.Molecularproperties 4.Chemicalmakeup

a.Hydrogenbonds b.Deoxyribose c.Nitrogengroups (1).Adenine (2).Cytosine (3).Guanine (4).Thymine 5.StudyofDNA a.CrickandWatson (1).Makeupoflife (2).Fourbases (a.)Adenine(A) (b.)Cytosine(C) (c.)Guanine(G) (d.)Thymine(T) (3).AlinkedtoT (4).ClinkedtoG (5).ManydifferenttypesofDNAmoleculesarepossible (a.)Traits (b.)Theory b.Life (1).Metabolicprocesses (2).DNAcontrol (3).Proteinsynthesis (a.)Particularcharacteristics (b.)Cellisthebasicunitofstructure III.Conclusion A.TheroleofDNA 1.Hereditarymaterial 2.Livingmaterial B.Studylivingmaterial

Geneticsisthescienceofheredity:whypeopleareliketheirparentsandwhythey arenot.Geneticistsareperformingmanyexperimentsinthescienceworldandthese experimentsaregettingmuchattention.Thispaperwillfocusontheprinciplesofthe geneticfieldwithadetaileddiscussioninanintroductiontothescienceofgeneticsandto theDNAmoleculewithadescriptionofthetollsthatareusedtotransfergenetictraitsfrom parentstooffspring. ThewordgeneticswasoriginatedbyanEnglishbiologistWilliamBateson,to designatethatthebranchofbiologywhichdealswiththeunderlyingcauseofinherited resemblancesanddifferencesbetweenindividualspecimen,andhencewiththeevolution ofalllivingthings.Assertingthattheessentialprocessbywhichthelikenessoftheparent istransmittedtotheoffspringisutterlymysterioustous,Batesonin1902exhortedhis fellowbiologiststoengagemoreactivelyintheexperimentalstudyofheredity.1

Heredityinvolvesthetransferringofsomeunitcharacterofinformationfromone generationtothenext.Determinersforthetraitmaybetransmittedequallythroughtheegg. Inotherwords,heredityisthepassingonofcharacteristicsfromparentstooffspring. GregorJoannMendel(18221884),anAustrianmonkandmathematician, discoveredtherulesofinheritanceinthe1860sbyperformingdetailedexperimentson gardenpeas.Hemadenumerouscrosseswiththemandkeptveryaccuraterecords. Actuallyhisresultsweresosimplethatleadingscientistscalledhisworkcrude.Mendel tracedonetraitatatime.2 Inall,Mendeltracedthetransmissionofseveninheritedcharacteristicsandhe examinedeachindividualplantgenerationaftergenerationandfollowedeachoftheseven individualcharacteristicsasindependentunits.Thismadeitpossibleforhimtodetermine howthegenesaresegregatedinthedevelopmentofthegametes(sexcell,containinghalf oftheinformationofanewindividual),andthenhowtheyarerecombinedinthelater generations.Mendelcontinuedhisexperimentsandinhislateryearspublishedtwosmall treatisesontheworkhehaddonewhichlaidthebasisforthreelawsthatcontrolthe transmissionofinheritedcharacteristics.TheselawsareknowntodayasMendelsLaws.
3

LawofDominanceOffspringofparentswhicharepurefor contrastingcharacteristicswillresembleoneparentonly.The geneforone,dominant,preventstheotherrecessive,from expressingitself,whenthetwoarecombinedinthesame organism. LawofSegregationWhenhybrids(theoffspringoftheunion ofamaleofoneracewiththefemaleofanother)arecrossed withotherhybridsorwithindividualsshowingeitherthedominant orrecessive,thedominantandrecessivebothappearinthe offspring,inadefiniteratio. LawofUnitCharacterEachpairofcharacteristicsoperates independentlyofothers,followingtheLawsofDominanceand Segregation. Inthe1910s,ThomasHuntMorgan,attheColumbiaUniversitydidgenetic experimentsonthefruitfly,Drosophiliamelengaster.Morganfoundthatthegenesare

locatedonthreadlikestructuredbodiestermedchromosomes,whicharefoundinthe nucleusofthecell.InMorgansexperiments,heobservedthatthecellsofalivingcreature divideinhalf.Thiscellfunction:mitosis,isthecreationoftwocellsfromanoriginally existingcell.Morgannoticedthatthenucleusofthecelldividedinhalf.onehalftoonecell andtheother,totheothersidebutwhentheentirecellsplitsintwo,itlookedasifthere wereonecompletenucleusineachcell.Thismeantthen,thatthehalfofthenucleusmade itsownreplicaofthemissinghalf.Thisgavegeneticiststhelocationwheretopinpointtheir researchandperhapsmeantthatmitosishasageneticalsignificance. Notwobeingsarealike,becauseofdifferenceinheredityandenvironment.Only identicaltwinshaveexactlythesamebiologicalinheritancebecausetheycomefromthe sameeggwhichsplitsinhalfduringdevelopment,givingthemidenticalheredity. Inheritedtraitscanbeeasilyseenbecauseeverythingaboutusisinherited. Diseaseswhichhavealsobeenlinkedgeneticallyinclude:hemophilia,musculardystrophy, andcancer.Asoffspringinherittraitsfromtheirparents,traitscanalsobetracedtomore distantrelatives. Onetrait,whichwillbeusedasanexample,isthebloodtype.In1900,Dr.Carl LandsteineroftheRockefellerInstituteaccuratelydescribedtheprinciplebloodtypes:A,B, AB,andO.4Thegenethatdeterminestheinheritanceofagglutinogenontheredblood cells(erithrocytes)hasbeentermedL,inhonorofDr.Landsteiner.Aconventional methodofwritingthesymbolhasbeenadoptedsothatLarepresentstypeAblood.Lb representstypeBandLabtypeAB.TypeO,whichhasnoaggluationisrepresentedby ll.SinceLaandLbarebothdominanttotypeO,theheterozygotes(containingone genepairwithdissimilarmembers)oftypesLalandLblcantbeeasilydistinguished fromhomozygotes(containingonegenepairwithsimilarmembers)LaLaandLbLb.Also, neitherLanorLbisdominantwithrespecttotheother.Theheterozygotes,LaLb,canbe identifiedasbloodtypeAB,andhassomecharacteristicsofboththehomozygotes. Everypersonalsoinheritshisbasicmentalintelligencewhichdeterminesthe capacitytolearn.Environmentgivesopportunitytodevelopthiscapacity.Noindividualcan learnmorethanhisbasicmentalabilityallowshimtolearn.Somepersonsinheritspecial aptitudesineachfieldas:music,mechanics,art,andmathematics.Sometimesthese specialabilitiesarenotrelatedtobasicmentalintelligencebutenvironmentalsoplaysan importantroleinthedevelopmentofskills. Childrenalsoinheritcertainmentaltraitsandsomementalillnessescanbe

inherited.Mentalandphysicalinjuries,thatoccurduringaparentslifetimecannotbe transmittedtooffspring.But,however,ithasbeenproventhatphysicaldeformitiescanbe transmitted.Thepresenceofmorethanfivefingersononehand,etc.,canbeinherited,but thesedeformities,termedmutations,occurrarely.Theseareduetocertainsubstancesthat alterthearrangementofmolecularstructuresintheDNAmolecule.Thischange,likea smallexplosion,occursinasingleinstantoftime.Itisasudden,revolutionaryeventthatis confinedtooneminutepointontheDNAmolecule.Onlythispoint(gene)ispermanently changedthenceforthandtheunmutatedmemberofthepairofgenesisunaffectedaswell astheotherthousandsofpairsthatareinthecell.Naturallyoccurringorspontaneous mutationsarenotonlyexceedinglyrareevents,butinmanyinstancestheeffectsofthe newlymutatedgenearerecessivetothenormalcondition.Ifthenewlymutatedgeneis dominanttothenonmutatedcondition,detectioniseasyandcanbecorrectedwithinthe generationofthetimeoforiginofthemutation.Evidenceshowsthatmutationsarise becauseofsomeagent,externaltothelivingcell,interfereswiththereplicationprocess duringmitoticcelldivision.Theresultisanincompleteorslightlychangedcopyandis thereafterperpetuated. Onesubstancewhichcausesmutationsisradiation.Thisisanexternalagent,as discussedearlier,whichcausesamolecularchangewithinthecell.Thismolecularchange iscausedbyanionization,thatremovesoraddstothenumberofelectronsinamolecular configuration,namelytheDNAmolecule.Thischangesetsupaninternalconditionwhich mayresultindamageto,orrearrangementof,aparticularspotonthelineupofgeneson thechromosome.Atmitoticintervals,thehereditymaterialmakesanincompletecopyofa smallsectionofitsmolecularstructure.Anentirechromosomemaybelostorgained,asin thecaseofmongolism,orbreaksmayoccurresultinginlossesofchromosomepiecesor theirreunioninnewarrangements.Mutationsaffecttheinternalorexternalstructureof biochemicalfunction.Mostmutationsarerecessivetothenormalcondition,asinthecase ofradiation,butanewmutationhasthehighprobabilityofkillingacellorcells.Thisis knownaslethalmutation.Thegenetichazardthatmutationsgiveriseto,isboth interestingandintriguing,butgeneticistsarestilldoingresearchtodeterminewhat substancecancorrectthealteredcondition. Apersonssexisdeterminedbyonespecialpairofthefortysixpairsof chromosomesinthebodyscells.Thispairofchromosomesaretermedsex chromosomes.Malesaresuppliedwithtwodifferentsexchromosomes,XandY,while femaleshaveonlytheXchromosome,butapairofX.Eachparentproducesagamete, containinghalfthechromosomesforanewbeing,whichistwentythreechromosomes.The gametesmustmeettogether(fertilize)sothatthechromosomesmaypairup,making fortysix.Thefemalesgamete(egg)containsonlytheXsexchromosomewhilethemale (sperm)iseitheronethatcontainstheXorYsexchromosome.Amaleproduces

millionsofgametesatonetime,sotheresultinsexdeterminationisstrictlybychance, dependinguponwhichspermfertilizestheegg. Thestudyofgeneticshasfocusedmuchattentiontothecellsinceitisthebasicunit oflifeineveryorganism.Allthetissuesinourbodiesarecomposedofcells.Thecell containsmanycomplicatedfunctionalpartswithinthelargestportion:thecytoplasm.The cytoplasmisbasicallycomposedofprotoplasm,aliquidcompositionmadeofallthe chemicalsneededforlife.Thenucleusisfoundinthenearcenterofthecell,surroundedby anoceanofprotoplasm.Itisthecontrolcenterofthecell.Itregulateswhatsubstanceswill enterandleavethecell.Foundinthenucleusarefortysixchromosomes.Thesearethread likestructureswherethegenesarelocated. In1880,aGermanbiologist,WalterFlemming,studiedcelldivision.Thisdivisionis termedmitosisfromaGreekwordmeaningthread.Atthecrucialmomentjustbefore thecelldivides,thepairsofchromosomespullapartandmovetothenewcellbeingmade. Eachchromosomehasthepowertoreplicateachromosomethatitwaspairedwithinthe earlierexistingcell.Thischromosomalreproductionisthemajorbiologicaladaptationto themaintenanceofthestatusquoofheredityandrepresentsaselfcopyingprocesswhich operateswithextraordinaryregularitytokeepthenumberofchromosomesconstantand thegeneticsubstancestable.Ithasproventhatthisstabilityremainspracticallythesame generationtogeneration.5 Thehumanbeingbeginslifeasafertilizedovum,producedbytheunionoftheegg andsperm.Theovumis1/200ofaninchindiameter,barelyvisiblebythenakedeye.The eggcontainsgeneticmaterialfromthemotherandfoodthegrowingcell.Thespermcellis 1/80,000thesizeoftheeggandcontainsonlythegeneticmaterialfromthefather.This materialthatisusedtopassongenetictraitsisacomplicatedcombinationoforganic chemicals. Thesubstancethatwaseventuallyfoundtobejoinedtochemicalmakeupof chromosomesisnucleoprotein.Atthetime,biochemistsfounditlogicaltoassumethat chromosomeswerelargelycarbohydrate,lipid(fat),orproteininnature,butin1869,a youngGermanchemist,FredrichMischer,isolatedasubstancefromlivingtissuethat turnedouttobeneithercarbohydrate,lipid,norprotein.Thissubstancehasacidproperties andhetermeditacidprotein.6Todaythissubstancehasbeenfoundtobethechemicalof life.Asstatederalier,genesareresponsibleforphysicalandmentaltraits.Theyare comprisedarecomposedofnucleoproteins.Thenucleoproteinwhichgenesare composedofisDNA.

DNA,deoxyribonucleicacid,whichhasbeenmentionedbefore,istheprinciple constituentofthechromosomesandthathereditarymaterialislocatedsinglefileonthe genes.DNAsstructureisadoublehelix(twistedladder).Therungsoftheladderare hydrogenbonds,holdingthemoleculetogether.Itcontainsdeoxyribose,aderivativeofthe fivecarbonsugar,riboseandiscombinedwithphosphatesandfourdifferentnitrogen groups.Thesenitrogengroupscontainnuclearacids:adenineA,cytosineC,guanineG, andthymineT. StudiesbyF.H.C.CrickandJ.D.WatsonindicatethattheDNAmoleculeisthe makeupoflivingorganisms.Butbeforemakingastatement,CrickandWatsonfoundthat fourthefourbases:A,C,T,andGarepairedinsuchamannerthatAislinkedtoT,andCis linkedtoGbuttheyalsofoundthatAisntalwayslinkedtoCbutitcouldbelinkedtoGas well.Thesamewentfortheotherthreecompounds.Thismeantthatanumberofdifferent DNAmoleculeswerepossible.Couldthisbewhytherearesomanydifferenttraittypes?A goodtheory.7 Biochemistshavedefinedlifeasanendlesschainofmetabolicprocessesand molecularmanipulationswhicharedirectedandcontrolledbyDNA.Studies,afterCrick andWatsonswork,showthatindifferentcellsofthebody,atdifferentportionsoftheDNA molecule,proteinsarecontinuallybeingsynthesized,givingcellstheirparticular characteristics.Assumingthatthecellisthebasicunitofstructure,DNAgivesahumanhis particularcharacteristicscausedbyproteinsynthesis.ThisiswhyDNAhasbeengetting muchattentioninthebiochemistryworld. TheroleofDNAashereditymaterialandthesubstanceoflifehasbecomeclear. Themorewestudythefunctionoflivingmaterial,themorewecanprobedeeperintothe mysteriesofDNA.Itmakeslivingmaterialwhatitis. FOOTNOTES GeorgeBeadle,TheLanguageofLife(GardenCity,NewYorkDoubleday&Co., 1966),p.1.
1

HowardJ.Dittmer,ModernPlantBiology(NewYork:VanNostrandReinholdCo., 1972),p.261. ThomasF.Morrison,HumanPhysiology(NewYork:Holt,Rinehart,Winston,Inc., 1973),p.451.

4 3

ThomasF.Morrison,HumanPhysiology(NewYork:Holt,Rinehart,Winston,Inc.,

1973),p.464.
5

IsaacAsimov,TheGeneticCode(NewYork:OrionPress,1962),p.19. IsaacAsimov,TheGeneticCode(NewYork:OrionPress,1962),p.25. D.S.Halacy,GeneticEvolution(NewYork:HarperandRow,1974),p.127.

BIBLIOGRAPHY Asimov,Isaac.TheGeneticCode.NewYork:OrionPress,1962. Beadle,George.TheLanguageofLife.GardenCity,NewYork:Doubleday& Co.,1966. Carson,HamiltonL.HeredityandHumanLife.NewYork:ColumbiaUniversity Press,1963. Dittmer,HowardJ.ModernPlantBiology.NewYork:VanNostrandReinholdCo., 1972. Fried,JohnJ.TheMysteryofHeredity.NewYork:JohnDayCo.,1971. Halacy,D.S.GeneticEvolution.NewYork:HarperandRow,1974. Morrison,ThomasF.HumanPysiology.NewYork:Holt,Rinehart,Winston,Inc., 1973.