Genetics and Genomics in Nursing and Health Care
Theresa A. Beery, M. Linda Workman, and Julia A. Eggert
2nd Edition
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,Table of Contents
H H
ChapterH01HDNAHStructureHandHFunction 1
ChapterH02HProteinHSynthesis 9
ChapterH03HGeneticHInfluenceHonHCellHDivision,HDifferentiation,HandHGametogenesis 19
ChapterH04HPatternsHofHInheritance 29
ChapterH05HEpigeneticHInfluencesHonHGeneHExpression 43
ChapterH06HAutosomalHInheritanceHandHDisorders 47
ChapterH07HSexHChromosomeHandHMitochondrialHInheritanceHandHDisorders 55
ChapterH08HFamilyHHistoryHandHPedigreeHConstruction 61
ChapterH09HCongenitalHAnomalies,HBasicHDysmorphology,HandHGeneticHAssessment 68
ChapterH10HEnzymeHandHCollagenHDisorders 74
ChapterH11HCommonHChildhood-OnsetHGeneticHDisorders 84
ChapterH12HCommonHAdult-OnsetHDisorders 95
ChapterH13HCardiovascularHDisorders 103
ChapterH14HTheHGeneticsHofHCancer 110
ChapterH15HGeneticHContributionsHtoHPsychiatricHandHBehavioralHDisorders 119
ChapterH16HGeneticHandHGenomicHTesting 124
ChapterH17HAssessingHGenomicHVariationHinHDrugHResponse 129
ChapterH18HHealthHProfessionalsHandHGenomicHCare 135
ChapterH19HFinancial,HEthical,HLegal,HandHSocialHConsiderations 140
ChapterH20HGeneticHandHGenomicHVariation 144
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HGeneticsHandHGenomicsHinHNursingHandHHealthHCare,H2ndHEditionH(Beery,H2019)
Chapter1: DNA Structure and Function
MULTIPLEHCHOICE
1. InHwhichHbodyHorHcellHareaHareHmostHgenesHinHhumansHlocated?
a. Nucleus
b. Mitochondrion
c. Cytoplasm
d. PlasmaHmembrane
ANS:H H A
MostHgenesHareHpartHofHtheHDNAHlocatedHinHtheHnucleusHofHbodyHcells.HOnlyHaHfewHgenesHareHl
ocatedHinHaHcell’sHmitochondrionHorHmitochondria.HThereHareHnoHgenesHorHDNAHinHeitherHtheHc
ytoplasmHorHtheHplasmaHmembranesHofHanyHcell.
2. WhichHconditionHorHstatementHexemplifiesHtheHconceptHofHgenomicsHratherHthanHgenetics?
a. TheHgeneHforHinsulinHisHlocatedHonHchromosomeH11HinHallHpeople.
b. ExpressionHofHanyHsingleHgeneHisHdependentHonHinheritingHtwoHalleles.
c. Sex-linkedHrecessiveHdisordersHaffectHmalesHmoreHoftenHthanHfemales.
d. OneHalleleHforHeachHgeneHisHinheritedHfromHtheHmother,HandHoneHisHinheritedHfromHt
heHfather.
ANS:H H A
GeneticsHisHtheHstudyHofHtheHgeneralHmechanismsHofHheredityHandHtheHvariationHofHinheritedH
traits.HGenomicsHisHtheHstudyHofHtheHfunctionHofHallHtheHnucleotideHsequencesHpresentHwithinH
theHentireHgenomeHofHaHs p e c i e s , Wi nWcW
l u.d iTn B
g HS
geMn.
esWiS
nHDNAHcodingHregionsHandHDNAHnoncodin
g
regions.HSelectionsHB,HC,HandHDHallHreferHtoHmechanismsHofHheredity.HOnlyHselectionHAHrefers
toHtheHfunctionHofHaHspecificHnucleotideHsequence.
3. WhatHisHtheHpurposeHofHphosphorousHinHaHDNAHstrand?
a. LinkingHtheHnucleotidesHintoHaHstrand
b. HoldingHcomplementaryHstrandsHtogether
c. EnsuringHthatHaHpurineHisHalwaysHpairedHwithHaHpyrimidine
d. PreventingHtheHseparationHofHdouble-strandedHDNAHintoHsingle-strandedHDNA
ANS:H H A
EachHnucleosideHbecomesHaHcompleteHnucleotideHwhenHaHphosphateHgroupHisHattached.HTheH
phosphatesHhaveHmultipleHbindingHsites,HandHeachHoneHcanHlinkHtoHtwoHnucleotides.HTheseHli
nkagesHallowHtheHnucleotidesHtoHbeHconnectedHwhenHplacedHintoHtheHDNAHstrand.HTheHnucl
eotidesHwithinHeachHstrandHareHheldHinHpositionHbyHtheHlinkedHphosphateHgroups,HwhichHactHl
ikeHtheHstringHholdingHaHstrandHofHbeadsHtogether,HformingHaHnecklace.
4. WhatHisHtheHtermHusedHtoHdefineHalternativeHformsHofHaHgeneHthatHmayHresultHinHdiffere
ntHexpressionHofHtheHtraitHcodedHforHbyHthatHgene?
a. Alleles
b. Bases
c. Centromeres
d. Diploids
HANS:H A
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HGeneticsHandHGenomicsHinHNursingHandHHealthHCare,H2ndHEditionH(Beery,H2019)
ForHeachHsingleHgene,HtwoHalternativeHformsHofHthatHgene,HknownHasHalleles,HtogetherHcontrol
HhowHthatHgeneHisHexpressed.HTheHallelesHmayHbeHidenticalHinHtheirHsequenceHbutHdoHnotHhave
HtoHbe.HWhenHaHdominantHalleleHisHpairedHwithHaHrecessiveHallele,HonlyHtheHdominantHalleleHis
Hexpressed,HandHtheHrecessiveHalleleHisHsilent.HWhenHaHdominantHalleleHisHpairedHwithHanothe
rHdominantHallele,HtheyHareHbothHexpressedH(usuallyHequally).HRecessiveHallelesHareHonlyHexp
ressedHwhenHtheyHareHhomozygous.HBasesHareHtheHessentialHpartHofHaHnucleotide,HofHwhichHt
hereHareHmanyHwithinHanyHgeneHregion.HCentromeresHareHtheHpinched-
inHpartHofHaHchromosomeHbetweenHtheHpHarmsHandHtheHqHarms.HTheHtermHdiploidHrefersHtoHth
eHnormalHnumberHofHchromosomeHpairsHwithinHaHcell.HItHisHanHadjective,HnotHaHnoun.HTheref
ore,HtheHpluralHdiploidsHdoesHnotHexist.
5. WhatHpercentageHofHbasesHinHaHstretchHofHdouble-strandedHDNAHthatHcontainsH30%Hguanine
(G)HbasesHwouldHbeHadenineH(A)?
a. 70%
b. 60%
c. 30%
d. 20%
ANS:H H D
BecauseHofHcomplementaryHpairing,HifH30%HofHtheHbasesHareHguanineH(G),HwhichHalwaysHpairsH
withHcytosineHC,HtheseHtwoHbasesHaccountHforH60%HofHtheHtotalHbasesHinHthisHstretch.HTheHrema
iningHbasesHmakeHupH40%HofHtheHtotal.HThisH40%HisHcomposedHofHequalHpercentagesHofHthymin
eH(T)HandHadenineH(A).
6. WhatHisHtheHtermHusedHtoHdescribeHtheHorganizedHpictureHofHtheHpairedHchromosomesHwithin
HaHcellHusedHtoHdetermineHwhetherHchromosomeHnumbers,Hstructures,HandHbandingHpatternsH
are
normal? WWW.TBSM.WS
a. Pedigree
b. Phenotype
c. Karyotype
d. Autotype
ANS:H H C
AHkaryotypeHisHaHpictureHofHanHorganizedHarrangementHofHallHofHtheHchromosomesHwithinHon
eHcellHduringHtheHmetaphaseHsectionHofHmitosis.HTheHchromosomesHareHpairedHandHthenHarran
gedHbyHnumberHaccordingHtoHsizeHandHcentromereHposition.HTheHbandingHpatternHofHeachHpai
rHisHanalyzedHtoHdetermineHwhetherHareasHhaveHbeenHdeleted,Hexpanded,HorHtranslocated.HAHp
edigreeHalsoHisHaHpicture,HbutHitHillustratesHseveralHgenerationsHofHaHfamilyHhistory.
PhenotypesHareHobservableHtraits.HAutotypeHisHnotHaHgeneticHterm.
7. WhatHwouldHbeHtheHsequenceHofHDNAHthatHisHcomplementaryHtoHaHDNAHsectionHwithHtheHba
seHsequenceHofHGGTCAATCCTTAG?
a. GATTCCTAACTGG
b. TTGACCGAAGGCT
c. AACTGGCTTCCGA
d. CCAGTTAGGAATC
HANS:H D
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