Exam (elaborations)
PCOL 838 Genetic Disease Exam With 100% Correct Answers 2024
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PCOL 838 Genetic Disease Exam With 100% Correct Answers
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PCOL 838 Genetic Disease Exam With100% Correct Answers
Acrocentrici-iCorrectiAnswer-
Refersitoitheiterminalilocationiofitheicentromereionichromosomesi13,i1
4,i15,i21,iandi22.
Alleliciheterogeneityi-iCorrectiAnswer-
Theisituationiiniwhichimultipleiallelesiatiaisingleilocusicaniproduceioneio
rimoreidiseaseiphenotypes.
Amorphici-iCorrectiAnswer-
Refersitoipathogenicivariantsithaticauseiaicompleteilossiofifunctioniforit
heirespectiveigeneiandithereforeiyielditheisameiphenotypeiasiaicomplet
eigeneideletion.
Aneuploidyi-iCorrectiAnswer-
Aigeneralitermiuseditoidenoteianyiunbalancedichromosomeicompleme
nt.
Antimorphici-iCorrectiAnswer-
Refersitoipathogenicivariantsithat,iwhenipresentiiniheterozygousiformio
ppositeiainonmutantiallele,iwilliresultiiniaiphenotypeisimilaritoihomozyg
osityiforiloss-of-functionialleles.
, Ascertainmentibiasi-iCorrectiAnswer-
Theisituationiiniwhichiindividualsiorifamiliesiiniaigeneticistudyiareinotire
presentativeiofitheigeneralipopulationibecauseiofitheiwayiiniwhichitheyi
areiidentified.
Autosomali-iCorrectiAnswer-Locatedionichromosomesi1-
22iratherithaniXioriY.
CpGiislandi-iCorrectiAnswer-
AisegmentiofiDNAithaticontainsiairelativelyihighidensityiofi5′-CG-
3′idinucleotides.iSuchisegmentsiareifrequentlyiunmethylatediandilocate
dicloseitoiubiquitouslyiexpressedigenes.
Dictyotenei-iCorrectiAnswer-
TheiendiofiprophaseiduringifemaleimeiosisiIiiniwhichifetalioocytesiareiar
restediprioritoiovulation.
Dominanti-iCorrectiAnswer-
Aipatterniofiinheritanceiorimechanismiofigeneiactioniiniwhichitheieffect
siofiaivariantialleleicanibeiobservediinitheipresenceiofiainonmutantiallele
.
Dominantinegativei-iCorrectiAnswer-
Aitypeiofipathophysiologicimechanismithatioccursiwheniaimutantiallelei
interferesiwithitheinormalifunctioniofitheinonmutantigeneiproduct.
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