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PCOL 838 Exam 1 with 100% Correct Answers | Latest Version (2024/2025) Expert Verified
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PCOL 838 Exam 1 with 100% Correct Answers | Latest Version (2024/2025) Expert Verified
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PCOL 838 Exam 1 with 100% CorrectAnswers | Latest Version (2024/2025)
Expert Verified
Whatiareitheipurinesiandipyrimidines?i-iCorrectiAnswer-
purines:iadenine,iguanine
pyrimidines:icytosine,iuracil,ithymine
WhatiareisomeiexamplesiofitheicauseiofimutationsiiniDNA?i-
iCorrectiAnswer-
cellularimetabolism,iUVilightiexposure,iionizingiradiation,ichemicaliexp
osure,ireplicationierrors
WhatihappensiwhenitheiDNAiisidamaged/aimutationioccurs?i-
iCorrectiAnswer-
cellicycleicheckpointiactivation,itranscriptionaliprogramiactivation,iDNA
irepair,iapoptosis
Whatiisitheidefinitioniofiaigene?i-iCorrectiAnswer-
AisegmentiofiDNAiencodesiaiproductiresponsibleiforiaimeasurableitrait.
WhatiareitheicodingiandinoncodingiregionsiofiDNA?i-iCorrectiAnswer-
exons:icodingiregions
,introns:isplicediout
Whatiareitheidifferentitypesiofimutations?i-iCorrectiAnswer-
•iSingleinucleotdeichangei/iSubstitutioni--
>isingleinucleotideipolymorphismi(SNP)
•iInsertioniandideletioni(INDELS)
Chromosomalirearrangement:
•iAneuploidy
•iInversioni
•iTranslocation
Whatiisitheidifferenceibetweeninonsense,isilent,iandimissenseimutatio
ns?i-iCorrectiAnswer-•iNonsenseimutationsiareioftenideleterious.
•iSilentimutationsiandisomeimissenseimutationimaybe
hereditable,iandibecomeianialleleiinitheipopulationi-->
variation
•iMissenseimutation:iAmorphic,ineomorphic,ihypermorphic,
hypomorphic,iAntimorphic
Whatigivesiriseitoialleles?i-iCorrectiAnswer-
singleinucleotideipolymorphismi(SNP)iandiinsertionideletionsi(INDELS)i
giveiriseitoidifferentiversionsiofiaisameigene,iknowniasialleles.
,WhatiareiMetacentric,iSubmetacentric,iAcrocentric,iTelocentricichrom
osomes?i-iCorrectiAnswer-Metacentric:ipiandiqiarmiareitheisame
Submetacentric:ipiarmiisislightlyishorterithanitheiqiarm
acrocentric:iveryilittleip-arm,inormaliqiarm
telocentric:inoipiarm,iqiarmistillipresent
WhatiisiKlinefelterisyndrome?i-iCorrectiAnswer-
mosticommonitypeiofiprimaryihypogonadismi(defectiisiatigonadalilevel)
XXYigenotype
Maleiphenotypeiatibirthibutifailureitoimatureisexually
atipuberty
Atipuberty,itestesibecomeifibroticiandiseminiferousitubules
i
areilargelyidestroyed
Lowitoilow-normalicirculatingitestosteroneilevels
Highiestrogen:androgeniratioicanileaditoifeminization
i
Treatediwithiandrogenireplacemen
Whatiisianeuploidy?iWhatiisiaiconditionithatiisianiexampleiofithis?i-
iCorrectiAnswer-
theipresenceiofianiabnormalinumberiofichromosomesiiniaicell
KlinefelteriSyndrome
, Whatiisiairobertsonianitranslocation?i-iCorrectiAnswer-
theimosticommoniformiofichromosomalirearrangementiwhereitheiparti
cipatingichromosomesibreakiatitheiricentromeresianditheilongiarmsifus
eitoiformiaisingle,ilargeichromosomeiwithiaisingleicentromere
Whatiisitheidifferenceibetweeniparacentriciandipericentriciinversions?i-
iCorrectiAnswer-
Paracentriciinversionsidoinotiincludeitheicentromereiandibothibreaksioc
curiinioneiarmiofitheichromosome.i
Pericentriciinversionsiincludeitheicentromereiandithereiisiaibreakipointii
nieachiarm
Whatiareiisochromosomes?i-iCorrectiAnswer-
twoiidenticaliarmsijoiningitogetheriresultingiinilossiofigeneticimaterial
Whatiisiaicommoniplaceitoiseeigeneiamplification?i-iCorrectiAnswer-
Geneiamplificationiofteniseeniinicancericellsiwhereianioncogeneiisiampli
fiedihundredsiofitimei-->ihigheriexpressioniofioncogenei
-->imalignantitransformation
Whichitypeiofimutationsiareiheritable?iGermlineiorisomatic?i-
iCorrectiAnswer-Germlineimutation
•iMutationitoitheigerminalicellsi(spermi/iovum).
•iGermilineimutationsicanibeipassedidownitoitheinextigeneration.
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