Sue E. Huether, Kathryn L. McCance -
g g g g g g
Test Bank for Understanding Pathophysiology (6th Ed)-TestBank (
g g g g g g g g
Chapter 1: Genes and Genetic Diseases
g g g g g
MULTIPLEgCHOICE
1. Insertinggbonegmarrowgcellsgintogangindividualgwhogproducesgabnormalgerythrocytesgisgange
xamplegofgwhatgtypegofgtherapy?
a. Somaticgcell c. Geneticgengineering
b. Germgcell d.g RecombinantgDNA
ANS:g A
Genegtherapygcangbegappliedgingtwogways.gTheglessgcontroversialgapproachgisgsomaticgcellgth
erapy,gwhichgconsistsgofginsertinggnormalggenesgintogthegcellsgofgangindividualgwhoghasgaggen
eticgdisease.gIngthisgapproach,gagparticulargtissue,gsuchgasgbonegmarrowgcellsgthatgproducegab
normalgerythrocytes,gisgtreated.gThegcorrectgoptiongisgthegonlygonegthatgaccuratelygidentifiesgt
hegtherapygdescribedgingthegquestion.
PTS:ggg 1 REF:g Pageg137g|gBoxg4-2
2. DNAgreplicationgrequiresgthegenzymegDNAgpolymerasegto:
a. TravelgalonggthegsinglegDNAgstrand,gaddinggthegcorrectgnucleotidegtogthegnewgs
trand
b. MovegalonggthegdoublegstrandgofgDNAgtogunwindgthegnucleotidesgofgthegdoublegh
elix
c. Holdgthegdoublegstrandgapartgwhilegthegcorrectgnucleotidesgaregaddedgtogthegstrand
d. TransportgthegdoublegstrandgofgDNAgfromgthegnucleusgtogthegcytoplasmgforgprotein
formation NURSINGTB.COM
ANS:g A
ThegDNAgpolymerasegenzymegtravelsgalonggthegsinglegDNAgstrand,gaddinggthegcorrectgnuc
leotidesgtogthegfreegendgofgthegnewgstrandg(seegFigureg4-
2,gB).gThegcorrectgoptiongisgthegonlygonegthatgaccuratelygdescribesgthegprocessginvolvedgingD
NAgreplicationgusinggDNAgpolymerase.
PTS:ggg 1 REF:g Pageg137
3. Transcriptiongisgbestgdefinedgasgagprocessgbygwhich:
a. DNAgpolymerasegbindsgtogthegpromotergsitegongribonucleicgacidg(RNA).
b. RNAgdirectsgthegsynthesisgofgpolypeptidesgforgproteingsynthesis.
c. RNAgisgsynthesizedgfromgagDNAgtemplate.
d. Agbasegpairgsubstitutiongresultsgingagmutationgofgthegaminogacidgsequence.
ANS:g C
TranscriptiongisgthegprocessgbygwhichgRNAgisgsynthesizedgfromgagDNAgtemplate.gThegc
, orrectgoptiongisgthegonlygonegthatgaccuratelygdefinesgthegtermgtranscription.
PTS:ggg 1 REF:g Pageg141
4. ThegpurposegofgagstaininggtechniquegofgchromosomesgsuchgasgGiemsagisgto:
a. Permitgthegmitoticgprocessgtogbegfollowedgandgmonitoredgforgvariations.
b. Allowgforgthegnumberinggofgchromosomesgandgthegidentificationgofgvariations.
, c. Identifygnewgsomaticgcellsgformedgthroughgmitosisgandgcytokinesis.
d. Distinguishgthegsexgchromosomesgfromgtheghomologousgchromosomes.
ANS:g B
OnegofgthegmostgcommonlygusedgstainsgisgGiemsagstain.gBygusinggbandinggtechniques,gchro
mosomesgcangbegunambiguouslygnumbered,gandgindividualgvariationgingchromosomegcomp
ositiongcangbegstudied.gMissinggorgduplicatedgportionsgofgchromosomes,gwhichgoftengresultgi
ngseriousgdiseases,galsogcangbegreadilygidentified.gThegcorrectgoptiongisgthegonlygonegthatgacc
uratelygdescribesgthegpurposegofgthegGiemsagstaininggtechnique.
PTS:ggg 1 REF:g Pagesg142-143
5. Angamniocentesisgindicatesgagneuralgtubegdefectgwhengangincreasegingwhichgproteingisge
vident?
a. Chorionic c. Amniotic
b. Alphagfetoprotein d.g Embryonic
ANS:g B
Othergdisordersgcangbegdetectedgwithgthisgprocedure.gThesegincludegmostgneuralgtubegdefect
s,gwhichgcausegangelevationgofgalphagfetoproteingingthegamnioticgfluid,gandghundredsgofgdise
asesgcausedgbygmutationsgofgsingleggenes.gThegcorrectgoptiongisgthegonlygonegthatgaccuratel
ygidentifiesgthegproteingresponsiblegforgagneuralgtubegdefect.
PTS:ggg 1 REF:g Pageg136g|gBoxg4-1
6. Angamniocentesisgisgrecommendedgforgpregnantgwomengwho:
a. Havegaghistorygofgchronicgillness
b. HavegagfamilyghistorygofggenetNicUd
RiSsIoNrG
deTrBs.COM
c. Havegexperiencedgingvitrogfertilization
d. Hadgaglategmenarche
ANS:g B
Amniocentesisgisgrecommendedgonlygforgpregnanciesgknowngtoghavegangelevatedgriskgforgagg
eneticgdiseasegorgingwomengoldergthang30gtog35gyearsgofgage.gThegcorrectgoptiongisgthegonlygo
negthatgaccuratelygdescribesgagcriteriongforgorderinggangamniocentesis.
PTS:ggg 1 REF:g Pageg136g|gBoxg4-1
7. Thegmostgclinicallygusefulgtechniquegforgprenatalgdiagnosisgofgchromosomalgabnormalities
atg3gmonths’g(12gweeks’)ggestationgis:
a. Genegmapping c. Amniocentesis
b. Linkageganalysis d.g Chorionicgvillusgsampling
ANS:g D
Chorionicgvillusgsamplinggconsistsgofgextractinggagsmallgamountgofgvillousgtissuegdirectlygfro
mgthegchorion.gThisgproceduregcangbegperformedgatg10gweeks’ggestationgandgdoesgnotgrequiregi
ngvitrogculturinggofgcells;gsufficientgnumbersgaregdirectlygavailablegingthegextractedgtissue.gThus
gthegproceduregallowsgprenatalgdiagnosisgatgapproximatelyg3gmonths’ggestationgrathergthangatgn
earlyg5gmonths’ggestation.gThegcorrectgoptiongisgthegonlygonegthatgaccuratelygdescribesgthegmost
gusefulgtechniquegforgprenatalgdiagnosisgofgchromosomalgabnormalities.
PTS:ggg 1 REF:g Pageg136g|gBoxg4-1
, PATHOPHYSIOLOGYg8THgEDITIONgMCCANCEgTESTgBANK
8. Thegtermgforgangerrorgingwhichghomologousgchromosomesgfailgtogseparategduringgmeiosisgo
rgmitosisgis:
a. Aneuploidy c. Polyploidy
b. Nondisjunction d.g Translocation
ANS:g B
Aneuploidygisgusuallygthegresultgofgnondisjunction,gangerrorgingwhichghomologousgchromos
omesgorgsistergchromatidsgfailgtogseparategnormallygduringgmeiosisgorgmitosis.gThegcorrectgop
tiongisgthegonlygonegthatgisgusedgtogdescribegangerrorgingchromosomalgseparationgduringgrepro
duction.
PTS:ggg 1 REF:g Pageg145
9. Whichgclinicalgmanifestationsgwouldgbegexpectedgforgagchildgwhoghasgcompletegtrisomygofgt
hegtwenty-firstgchromosome?
a. Widelygspacedgnipples,greducedgcarryingganglegatgthegelbow,gandgsparsegbodyghair
b. AngIQgofg25gtog70,glowgnasalgbridge,gprotrudinggtongue,gandgflat,glow-setgears
c. High-pitchedgvoice,gtallgstature,ggynecomastia,gandgangIQgofg60gtog90
d. Circumoralgcyanosis,gedemagofgthegfeet,gshortgstature,gandgmentalgslowness
ANS:g B
Individualsgwithgthisgdiseasegaregmentallygretarded,gwithgIQsgusuallygranginggfromg25gto
70.gThegfacialgappearancegisgdistinctivegandgexhibitsgaglowgnasalgbridge,gepicanthalgfoldsg(wh
ichgproducegagsuperficiallygAsiangappearance),gprotrudinggtongue,gandgflat,glow-
setgears.gThegcorrectgoptiongisgthegonlygonegthatgaccuratelygdescribesgthegclinicalgmanifestatio
nsgofgthegcompletegtrisomygofgthegtwenty-firstgchromosome.
NURSINGTB.COM
PTS:ggg 1 REF:g Pagesg146-147
10. WhatgisgthegmostgcommongcausegofgDowngsyndrome?
a. Paternalgnondisjunction c. Maternalgnondisjunction
b. Maternalgtranslocations d.g Paternalgtranslocation
ANS:g C
Nondisjunctiongduringgthegformationgofgonegofgthegparent’sggametesgorgduringgearlyge
mbryonicgdevelopmentgoccursgingapproximatelyg97%gofginfantsgborngwithgDowngsynd
rome.gIngapproximatelyg90%gtog95%gofginfants,gthegnondisjunctiongoccursgingthegforma
tiongofgthegmother’sgegggcell.gThegcorrectgoptiongisgthegonlygonegthatgaccuratelygdescrib
esgthegmostgcommongcausegofgDowngsyndrome.
PTS:ggg 1 REF:g Pageg147
11. Whatgsyndrome,gcharacterizedgbygangabsentghomologousgXgchromosomegwithgonlygagsingleg
Xgchromosome,gexhibitsgfeaturesgthatgincludegagshortgstature,gwidelygspacedgnipples,gandgwe
bbedgneck?
a. Down c. Turner
b. Crigdugchat d.g Klinefelter
ANS:g C
NURSINGTB.COM
g g g g g g
Test Bank for Understanding Pathophysiology (6th Ed)-TestBank (
g g g g g g g g
Chapter 1: Genes and Genetic Diseases
g g g g g
MULTIPLEgCHOICE
1. Insertinggbonegmarrowgcellsgintogangindividualgwhogproducesgabnormalgerythrocytesgisgange
xamplegofgwhatgtypegofgtherapy?
a. Somaticgcell c. Geneticgengineering
b. Germgcell d.g RecombinantgDNA
ANS:g A
Genegtherapygcangbegappliedgingtwogways.gTheglessgcontroversialgapproachgisgsomaticgcellgth
erapy,gwhichgconsistsgofginsertinggnormalggenesgintogthegcellsgofgangindividualgwhoghasgaggen
eticgdisease.gIngthisgapproach,gagparticulargtissue,gsuchgasgbonegmarrowgcellsgthatgproducegab
normalgerythrocytes,gisgtreated.gThegcorrectgoptiongisgthegonlygonegthatgaccuratelygidentifiesgt
hegtherapygdescribedgingthegquestion.
PTS:ggg 1 REF:g Pageg137g|gBoxg4-2
2. DNAgreplicationgrequiresgthegenzymegDNAgpolymerasegto:
a. TravelgalonggthegsinglegDNAgstrand,gaddinggthegcorrectgnucleotidegtogthegnewgs
trand
b. MovegalonggthegdoublegstrandgofgDNAgtogunwindgthegnucleotidesgofgthegdoublegh
elix
c. Holdgthegdoublegstrandgapartgwhilegthegcorrectgnucleotidesgaregaddedgtogthegstrand
d. TransportgthegdoublegstrandgofgDNAgfromgthegnucleusgtogthegcytoplasmgforgprotein
formation NURSINGTB.COM
ANS:g A
ThegDNAgpolymerasegenzymegtravelsgalonggthegsinglegDNAgstrand,gaddinggthegcorrectgnuc
leotidesgtogthegfreegendgofgthegnewgstrandg(seegFigureg4-
2,gB).gThegcorrectgoptiongisgthegonlygonegthatgaccuratelygdescribesgthegprocessginvolvedgingD
NAgreplicationgusinggDNAgpolymerase.
PTS:ggg 1 REF:g Pageg137
3. Transcriptiongisgbestgdefinedgasgagprocessgbygwhich:
a. DNAgpolymerasegbindsgtogthegpromotergsitegongribonucleicgacidg(RNA).
b. RNAgdirectsgthegsynthesisgofgpolypeptidesgforgproteingsynthesis.
c. RNAgisgsynthesizedgfromgagDNAgtemplate.
d. Agbasegpairgsubstitutiongresultsgingagmutationgofgthegaminogacidgsequence.
ANS:g C
TranscriptiongisgthegprocessgbygwhichgRNAgisgsynthesizedgfromgagDNAgtemplate.gThegc
, orrectgoptiongisgthegonlygonegthatgaccuratelygdefinesgthegtermgtranscription.
PTS:ggg 1 REF:g Pageg141
4. ThegpurposegofgagstaininggtechniquegofgchromosomesgsuchgasgGiemsagisgto:
a. Permitgthegmitoticgprocessgtogbegfollowedgandgmonitoredgforgvariations.
b. Allowgforgthegnumberinggofgchromosomesgandgthegidentificationgofgvariations.
, c. Identifygnewgsomaticgcellsgformedgthroughgmitosisgandgcytokinesis.
d. Distinguishgthegsexgchromosomesgfromgtheghomologousgchromosomes.
ANS:g B
OnegofgthegmostgcommonlygusedgstainsgisgGiemsagstain.gBygusinggbandinggtechniques,gchro
mosomesgcangbegunambiguouslygnumbered,gandgindividualgvariationgingchromosomegcomp
ositiongcangbegstudied.gMissinggorgduplicatedgportionsgofgchromosomes,gwhichgoftengresultgi
ngseriousgdiseases,galsogcangbegreadilygidentified.gThegcorrectgoptiongisgthegonlygonegthatgacc
uratelygdescribesgthegpurposegofgthegGiemsagstaininggtechnique.
PTS:ggg 1 REF:g Pagesg142-143
5. Angamniocentesisgindicatesgagneuralgtubegdefectgwhengangincreasegingwhichgproteingisge
vident?
a. Chorionic c. Amniotic
b. Alphagfetoprotein d.g Embryonic
ANS:g B
Othergdisordersgcangbegdetectedgwithgthisgprocedure.gThesegincludegmostgneuralgtubegdefect
s,gwhichgcausegangelevationgofgalphagfetoproteingingthegamnioticgfluid,gandghundredsgofgdise
asesgcausedgbygmutationsgofgsingleggenes.gThegcorrectgoptiongisgthegonlygonegthatgaccuratel
ygidentifiesgthegproteingresponsiblegforgagneuralgtubegdefect.
PTS:ggg 1 REF:g Pageg136g|gBoxg4-1
6. Angamniocentesisgisgrecommendedgforgpregnantgwomengwho:
a. Havegaghistorygofgchronicgillness
b. HavegagfamilyghistorygofggenetNicUd
RiSsIoNrG
deTrBs.COM
c. Havegexperiencedgingvitrogfertilization
d. Hadgaglategmenarche
ANS:g B
Amniocentesisgisgrecommendedgonlygforgpregnanciesgknowngtoghavegangelevatedgriskgforgagg
eneticgdiseasegorgingwomengoldergthang30gtog35gyearsgofgage.gThegcorrectgoptiongisgthegonlygo
negthatgaccuratelygdescribesgagcriteriongforgorderinggangamniocentesis.
PTS:ggg 1 REF:g Pageg136g|gBoxg4-1
7. Thegmostgclinicallygusefulgtechniquegforgprenatalgdiagnosisgofgchromosomalgabnormalities
atg3gmonths’g(12gweeks’)ggestationgis:
a. Genegmapping c. Amniocentesis
b. Linkageganalysis d.g Chorionicgvillusgsampling
ANS:g D
Chorionicgvillusgsamplinggconsistsgofgextractinggagsmallgamountgofgvillousgtissuegdirectlygfro
mgthegchorion.gThisgproceduregcangbegperformedgatg10gweeks’ggestationgandgdoesgnotgrequiregi
ngvitrogculturinggofgcells;gsufficientgnumbersgaregdirectlygavailablegingthegextractedgtissue.gThus
gthegproceduregallowsgprenatalgdiagnosisgatgapproximatelyg3gmonths’ggestationgrathergthangatgn
earlyg5gmonths’ggestation.gThegcorrectgoptiongisgthegonlygonegthatgaccuratelygdescribesgthegmost
gusefulgtechniquegforgprenatalgdiagnosisgofgchromosomalgabnormalities.
PTS:ggg 1 REF:g Pageg136g|gBoxg4-1
, PATHOPHYSIOLOGYg8THgEDITIONgMCCANCEgTESTgBANK
8. Thegtermgforgangerrorgingwhichghomologousgchromosomesgfailgtogseparategduringgmeiosisgo
rgmitosisgis:
a. Aneuploidy c. Polyploidy
b. Nondisjunction d.g Translocation
ANS:g B
Aneuploidygisgusuallygthegresultgofgnondisjunction,gangerrorgingwhichghomologousgchromos
omesgorgsistergchromatidsgfailgtogseparategnormallygduringgmeiosisgorgmitosis.gThegcorrectgop
tiongisgthegonlygonegthatgisgusedgtogdescribegangerrorgingchromosomalgseparationgduringgrepro
duction.
PTS:ggg 1 REF:g Pageg145
9. Whichgclinicalgmanifestationsgwouldgbegexpectedgforgagchildgwhoghasgcompletegtrisomygofgt
hegtwenty-firstgchromosome?
a. Widelygspacedgnipples,greducedgcarryingganglegatgthegelbow,gandgsparsegbodyghair
b. AngIQgofg25gtog70,glowgnasalgbridge,gprotrudinggtongue,gandgflat,glow-setgears
c. High-pitchedgvoice,gtallgstature,ggynecomastia,gandgangIQgofg60gtog90
d. Circumoralgcyanosis,gedemagofgthegfeet,gshortgstature,gandgmentalgslowness
ANS:g B
Individualsgwithgthisgdiseasegaregmentallygretarded,gwithgIQsgusuallygranginggfromg25gto
70.gThegfacialgappearancegisgdistinctivegandgexhibitsgaglowgnasalgbridge,gepicanthalgfoldsg(wh
ichgproducegagsuperficiallygAsiangappearance),gprotrudinggtongue,gandgflat,glow-
setgears.gThegcorrectgoptiongisgthegonlygonegthatgaccuratelygdescribesgthegclinicalgmanifestatio
nsgofgthegcompletegtrisomygofgthegtwenty-firstgchromosome.
NURSINGTB.COM
PTS:ggg 1 REF:g Pagesg146-147
10. WhatgisgthegmostgcommongcausegofgDowngsyndrome?
a. Paternalgnondisjunction c. Maternalgnondisjunction
b. Maternalgtranslocations d.g Paternalgtranslocation
ANS:g C
Nondisjunctiongduringgthegformationgofgonegofgthegparent’sggametesgorgduringgearlyge
mbryonicgdevelopmentgoccursgingapproximatelyg97%gofginfantsgborngwithgDowngsynd
rome.gIngapproximatelyg90%gtog95%gofginfants,gthegnondisjunctiongoccursgingthegforma
tiongofgthegmother’sgegggcell.gThegcorrectgoptiongisgthegonlygonegthatgaccuratelygdescrib
esgthegmostgcommongcausegofgDowngsyndrome.
PTS:ggg 1 REF:g Pageg147
11. Whatgsyndrome,gcharacterizedgbygangabsentghomologousgXgchromosomegwithgonlygagsingleg
Xgchromosome,gexhibitsgfeaturesgthatgincludegagshortgstature,gwidelygspacedgnipples,gandgwe
bbedgneck?
a. Down c. Turner
b. Crigdugchat d.g Klinefelter
ANS:g C
NURSINGTB.COM
