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Wecanseegeneticmutationseverywhereinourdaytodaylives.Thekeyinseeing thesemutationsistounderstandwhatgeneticmutationsare.Ageneticmutationoccursdeep downinourbodies,affectingourproteinsandunseeabletothenakedeye.Scientistshave revealedthroughstudies,theirmanytypes. Genemutationscanbemorecommonthanyouthink.Genemutationsaremishapsor mistakesinonesgeneticsorDNAcoding.Usuallyweseemutationsinmoviesorcomicswhere peoplegetbitbyaspiderorfallintoabucketofradioactiveguebutreallythereareonlytwo causestogeneticmutations.Mutationscanoccurfrombeinginheritedfromparentsalsoknown ashereditary.Anotheracquiredsomatically,explainedasbeingacquiredduringsomeones lifetime(U.S.NationalLibraryofMedicine,2014).Whenamutationoccursfromasomatic reason,itpossiblyoccurredfromanerrorinDNAreplication.ThechancesofDNAduplication goingwrongis1in1,000,000,000soasomaticmutationcanbeveryrare.Genemutationsare permanentchangesinDNAthatrangeindifferentsizesofourbodies.Somemutationsareas smallasasingleDNAbuildingblock,orasbigasawholesegmentofchromosomes(U.S. NationalLibraryofMedicine,2014).

Manymutationsarecommon,infactanymutationthat occursinmorethanonepercentofthepopulationiscalledaPolymorphismmutation(U.S. NationalLibraryofMedicine,2014).Polymorphismmutationsincludeeye,hairandevenskin color.Thesemutationsusuallyhavenonegativeeffectsonthebodybutmayhaveachanceof causingdisorders.Now,thatweknowwhatgenemutationsareandhowtheyoccur,lets discovermoreaboutgenemutationsandtheiraffectsonourbodiesandproteins. Cellsofthehumanbodyaremadeupofproteinswhichgenesconstruct,makingevery proteinimportanttoeachofourcells.Geneticdisordersarefromagenemutationaffectingthe proteinsfunctionorevenstoppingtheproteinsfunctiontotally(U.S.NationalLibraryofMedicine, 2014).Genemutationsarewhatpreventsoneormoreproteinstowork(U.S.NationalLibraryof Medicine,2014).Themaininterestaboutgenemutationsisinhowtheyaffectourproteinsthat makeupourcells.Genemutationsinoneormorecellsinconsideredageneticdisorder(U.S. NationalLibraryofMedicine,2014).Mostgenemutationsthatarecommontoushumansarenot harmful,likehairbeingbrownoreyesbeingblue,butthenagainsomegenemutationsare incompatiblewithlife(U.S.NationalLibraryofMedicine,2014).Somegeneticmutationscanbe soseverethattheywillcauseanembryointhewombtodieandnevermakeittobirth.After learningtheeffectsofgenemutations,letstakeacloserlookatsomegenemutations. Sinceallgenedisordersaregenemutations,whichderivefromamalfunctioninproteins, letslookcloselyatwhattypesofgenemutationsthereareandtheireffectsonproteins.Each genemutationhasvaryingeffectsonhealthandoccurindifferentplaces.Onemutationiscalled theMissenseMutation(U.S.NationalLibraryofMedicine,2014).Thismutationiscausedfroma changeinoneDNAbasepairwhileconstructingaprotein(U.S.NationalLibraryofMedicine, 2014).TheDNAbasepairsarethebuildingblocksoftheDNAsdoublehelixandbychanging oneofthebuildingblocksitalterstheproteinsfunction.ThegameofJengabestshowsthatby removingbuildingblocks,likeaDNAbasepair,thedesiredrectangularblockbecomesatilting towerwithunfilledholesandnolongeraperfectbuilding.ThenonsenseMutationisverysimilar

totheMissenseMutationonlyintheendafterswitchingoutaDNAbasepairtheresultingprotein becomesshortenedorevennotworkatall(U.S.NationalLibraryofMedicine,2014).Another mutationisknownasDuplication(U.S.NationalLibraryofMedicine,2014).TheDuplication MutationiscausedfromaDNAstrandbeingabnormallycopiedoneormoretimes(U.S.National LibraryofMedicine,2014).Itwouldbelikeabestfriendsforeverheartlocketwhereonesideof theheartdidntfitperfectlyintotheotherformingsomethingdifferentthanwhatitwasmeantto form.

Figure1.TwoDNAstrandsformingthecommondoublehelixshape.Thediagramshowsan exampleofasubstitutionmutation.ThismutationoccurswhenoneoftheDNAsbasepairsis switchedoutwiththewrongcoding.Theeffectofthismutationwillaffectthewaytheprotein, beingmade,willfunctionoreveniftheproteinwillfunctionatall. Understandinggenemutationscanchangeone'sperspectiveonlife.Toknowthatyou're amutantbecause,yourhairturnsbrowninsteadofblondorhavingfrecklesinsteadofa constantskincolor.Thestudyofgeneticmutationscanleadtofargreaterdiscoveriesotherthan concludingwhattypesthereare.Studyingmutationscanleadtodiscoveriesofsolutionstofix mutationsorevenfindwaystocausethemaswell.

Citations: "WhatIsaGeneMutationandHowDoMutationsOccur?"GeneticsHomeReferenceofMedicine. U.S.NationalLibrary,10Feb.2014.Web.13Feb.2014.

"HowCanGeneMutationsAffectHealthandDevelopment?"GeneticsHomeReference.U.S. NationalLibraryofMedication,10Feb.2014.Web.14Feb.2014. "WhatKindsofGeneMutationsArePossible?"GeneticsHomeReference.U.S.NationalLibraryof Medicine,10Feb.2014.Web.14Feb.2014.

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