AnayelliVasquez

Vasquez1

4thPeriodBiology
November282014
GeneticMutation

GeneticMutationisapermanentchangeintheDNAsequenceinageneticstructure.
Theseaccidentalchangescancausedrasticandlongtermeffectsonthehumanbody.Indiseases
thatarecausebylittleharmarehardtotreatbecauseyouwouldneedtofixthebrokengeneor
stopitfromhappening.Mutationshappenduringcelldivisionorthemakingofanewbodycell.
TheDNAgetsduplicatedandotherfactorsincludeharmfuleffectslikeUVradiations,chemicals
andviruses.Ifthishappensduringtheprocessofmeiosisorhypermutationthesemutationcanbe
dividedintogermlinemutationswhichmeansitcanbepasseddowntofurthergenerationsnew
genesarecreated.OnemajorwaysareduringnormalDNA.Approximately6billioncellsare
goodatcatchingtheerrors.TheCellsDNAstartsreplicatingsinceafetusandpeopleage
increasebecauseofgeneticdamage.Radiationcancauseharmfuldamage,joiningtoeachother
andthedimerdimercausesmistake.Pointmutationshavethreeeffectsanditiswhenasingle
pairisaltered.YoucanhavechangesintheDNAsurfaces.SilentNonsensebasesubstitutions.
Mutationsdonthavebadeffectbecauseofreductanteffectsonthegeneticcode.

Vasquez2

ThisalldependsonhowDNAandGenomeareorganized.Therearetwotypesof
mutations.Theirispointmutationsthatcausereplacementofthenucleotide.There's
nonsynonymousmutation.Thismeansthattheaminoacidischanged.Synonymousmutationsor
calledsilentmutationsoccurinsequencesthatcodeforaminoacids.Theydon'tchangethe
encodedaminoacid.Changesusuallyoccurinthethirdcodon.Theyhappenbecauseofamino
acidsencodedbymanycodons(multiple).Iftheyarelocatedintheintronsitcausesdiverse
regulatingproperties.Thesequencesarebeingkeptduringpurifyingselection.Indelsarethe
lengthdifferencesbetweentwoorinsertionofbasesintheDNAofanorganism.Insertionsor
deletionscanbeinvolvedwithgeneticmutationbecausetheyhavethegreatesteffectbecauseit
causesaframeshift.Wholechromosomesandcopiescantranslocateentiresectionsofa
chromosphere.Disruptioninthegenecancausethisbecauseofdifferenttypeoftransportable
elements.

ThegenesinthesectionsofDNA.Wecanthinkofthisasthealphabet.Genesarewords
andthechromosomesareafullsentence.These46chromosomesmakeanewbooktoread.
Eachgeneisgivenawaytoidentifyitselfthatwayitcanbeeasiertotellwhatwastheeffect.
Chromosomescomeinparisinthecellsnucleus.The46chromosomesmeanweallhave23
pairsofchromosomes.Letsnamethese22chromosomesnumbers122.Achromosomecomes
fromparentAandtheotherchromosomesformfromparentB.Wellwhatdoesthe23rdpair

do?The23rdchromosomedeterminesthecellsfetus'sgender.AmalewouldhaveanXandY
chromosome.

Vasquez3
ThishappensbecausetheygetanXchromosomefromtheirmotherandaY
chromosomefromtheirfatherandafemalewouldhaveXXsbecausetheywouldgetoneX
fromeachparent.TheXlinkeddisordersaredisordersaffectingfemalesandmalesnotthesame.
TheycomefromtheXchromosomeandaffectmalesbecausefemaleshaveXXsmeaningthey
wouldhaveabackup.AutosomalconditionsmeaningthegeneticmutationIDsonone
autosome.Thismutationcanbeoccurredevenifonepersonhasitandtheotheronedoesnot.
Thisisaapproximatelya50%chance.Autosomalrecessivemeaningthatitwouldtakeboththe
motherandfathertocarrythegene.Youwouldneedtwoofthesetohaveageneticdisorder.
Carrierofthedisordersarethepresenceofacorrespondinggenes.Thatiswhytheyshowno
symptomsofitatall.TakeforanexampletwoparentsthathavethegeneCTRF.Letssaysthe
couplehasfourchildren.Theirwouldbea25%thatoneofthekidswillhaveCysticFibrosis.
Onekidwouldbenormalandtheothertwowouldbecarriers.Iftheyarecarriersitwouldmean
thattheycanhaveachildwiththediseaseonlyiftheygetpairedupwithsomeonewiththesame
inheritedgene.Overtheyearstherehavebeentreatmentsofferedforpeoplewiththesekindof
diseasesandinthefuturetherewouldbemoreresearchdoneandcures.

WorksCited
______________________________________________________________________

Clanzy,Suzanne,andNatureEducation."GeneticMutation."
Nature.com
.NaturePublishing
Group,2008.Web.08Jan.2015.

MutationsandDisease
.TheTechTheTechMuseumofInnovation,2013.Web.06Jan.2015.

CysticFibrosis

Date:1/9/15
Class:Biology
Overview:
OurDNAismadeupofmillionsofDNAnucleotides.Ifoneofthosesinglenucleotide
becomesmutatedithasaseriouseffect.TheseeffectsincludediseaseslikeCysticFibrosis
(adiseasethatisinheritedgenetically).Notallmutationshaveeffectslikethese.Agenetic
mutationisanerrorintheDNAsequence.InthisprojectIwillbeworkingandresearching
moreaboutgeneticmutation.Theresearchwillbeneatlydisplayedandopentothepublicif
possible.ForthepeoplewhohaveCFitshardatfirstbutinthefuturetheystarttorealizetheir
newlife.

Purpose
:
ThepurposeofthisassignmentistocreateanappthathelpspeoplewithCysticFibrosis.
ThisappwillbecreatedonXcode.Awebsitewillbecreatedandbetitled65Roses.The
websitewilltalkaboutthediseaseandhaveimportantinformationon:
Recognizingthedisease
Factsaboutthedisease

Finalproduct

WebsiteThiswebsitewillbecalled65roses(anothernameforthedisease)andtalkmore
aboutupdatesaboutnewmedicationsandaboutthedisease.

APPThisappwilleitherbeagameorbeusedtotrackakidwithCFsprocessexample:
beingabletochecktheirweightprogress.

Thiswillbeabackupplanforiftheappdoesnotwork

3peerreviewed(journaloruniversitybased)sources

Interview1doctorpossiblyapulmonologist(pediatric)withquestionsaboutyourresearch.
Thepapermustbenoshorterthan6pagestotal(2%perpage).

EssentialQuestions

Whatnewtreatmentsarebeingresearchednowforthefuture?
Questionsfortheinterview:

WhatisthemostcommongenefoundinpeoplewithCF?

Whatnewtreatmentsarebeingresearchednowforthefuture?