NSG 533 Advanced Pathophysiology Exam 2 Questions With Complete Solutions

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NSG 533 Advanced Pathophysiology Exam 2 Questions With Complete Solutions

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NSG 533 Advanced Pathophysiology Exam 2 Questions With Complete Solutions

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NSGsd533sdPathophysiologysdExamsd2

Whatsdissdgenetics?sd-sdcorrectsdanswer✔ ✔
Studysdofsdinheritedsdtraitssdandsdvariations;sdexaminationsdofsdasdparticular/
smallsdgroupsdofsdgene(s);sdfocused/individualsdpicture

Whatsdissdgenomics?sd-sdcorrectsdanswer✔ ✔
Totalsdgeneticsdcompositionsdofsdorganism/species;sdanalysissdofsdentiresdsp
eciessdgenome;sdbroadsdview

Genesd-sdcorrectsdanswer✔ ✔
Basicsdunitsdofsdhereditysdthatsdcodessdforsdspecificsdproteinsdleadingsdtosdasdc
haracteristicsdorsdfunction

Allelesd-sdcorrectsdanswer✔ ✔
Onesdversionsdofsdasdgenesdatsdasdgivensdlocationsdalongsdasdchromosome

Mutantsdallelessd-sdcorrectsdanswer✔ ✔ Cansdbe:

-diseasesdcausingsdmutations
-polymorphismsd(alterationssdwithsdnormalsdgenesdfunction)
-variantsdofsdunknownsdsignificance

,Phenotypesd-sdcorrectsdanswer✔ ✔
Observablesdphysicalsd/sdbiochemicalsdcharacteristicssdofsdgenesdexpressio
n;sdclinicalsdpresentation

Variabilitysdissdasdgoodsdreasonsdbecausesd-sdcorrectsdanswer✔ ✔ -
maintainssdrobustsdpopulation
-homogeneitysdweakenssdd/tsdinabilitysdtosdadapt
-maysdleavesditsdmoresdvulnerablesdtosdothers

Penetrancesd-sdcorrectsdanswer✔ ✔
Proportionsdofsdindividualssdwithsdmutationsdwhosdexhibitsdclinicalsdsympto
ms

Huntington'ssd=sd100%sdpenetrance

Consanguinitysd-sdcorrectsdanswer✔ ✔
Geneticsdrelatednesssdbetweensdindividualssddescendingsdfromsdatsdleastsdon
esdcommonsdancestorsd

Increasessdautosomalsdrecessivesddiseases

,Anticipationsd-sdcorrectsdanswer✔ ✔
Tendencysdforsddisorderssdinsdsuccessivesdgenerationssdtosdpresentsdatsdansde
arliersdagesdand/orsdwithsdmoresdseveresdmanifestations

Mosaicismsd-sdcorrectsdanswer✔ ✔
Occurrencesdofsdtwosdorsdmoresdcellsdlinessdwithsddifferentsdgeneticsdorsdchro
mosomalsdconstitutions

GenesdDeletionsd-sdcorrectsdanswer✔ ✔
AbsencesdofsdasdDNAsdsegment;sdlikelysdmostsdcriticalsdd/tsdlosssdofsdgenetics
dmaterial

GenesdDuplicationsd-sdcorrectsdanswer✔ ✔
PresencesdofsdansdextrasdDNAsdsegmentsdresultingsdinsdredundantsdportions,s
dansdentiresdgene,sdorsdasdseries

-causedsdbysdunequalsdcrossing-oversdduringsdgenesdreplication

GenesdInversionsd-sdcorrectsdanswer✔ ✔
Chromosomalsdrearrangement;sdsegmentsdhassdinvertedsdandsdreinsertedsda
tsdthesdsamesdbreakagesdsite
-balance:sdusuallysdnosdabnormalities
-unbalanced:sdalmostsdalwayssdabnormal

, GenesdTranslocationsd-sdcorrectsdanswer✔ ✔
Chromosomalsdalteration;sdwhole/segmentsdchromosomesdbecomessdattac
hedsdorsdinterchangedsdwithsdanothersdwhole/segmentsdchromosome

GenesdMutationsd-sdcorrectsdanswer✔ ✔
Anysdalterationsdinsdasdgenesdfromsditssdnaturalsdstate;sddiseasesdcausingsdorsdb
enign

Autosomalsddominantsd-sdcorrectsdanswer✔ ✔
Phenotypesdexpressedsdinsdthosesdwhosdonlysdhavesdonesdcopysdofsdgenesdmut
ation

Autosomalsdrecessivesd-sdcorrectsdanswer✔ ✔
Phenotypesdexpressedsdinsdthosesdwhosdhavesdtwosdcopiessdofsdgenesdmutatio
n

X-linkedsddominantsd-sdcorrectsdanswer✔ ✔
DominantsdtraitsdcausedsdbysdmutationsdinsdXsdchromosome

Expressedsdinsdheterozygoussdfemalessdandsdhemizygoussdmales;sdmoresdseve
resdinsdmales

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Number of pages: 32
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