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Test Bank for Human Genetics Concepts and Applications, 14th Edition by Ricki Lewis.pdf

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Test Bank for Human Genetics Concepts and Applications, 14th Edition by Ricki L

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Voorbeeld van de inhoud

Test Bank For Human Genetics, 13th Edition All Chapte
m m m m m m m m



rs -
m




Lecturem1:m-mmmANSWER mm

-mDNAmismpackagedmasmchromatin,mchromosomesmbecomemvisiblemduringmmitosis.m-
mmmANSWER mm




Homologues-m(maternal mandmpaternal mformsmof msamemchromosome)m-mmmANSWER mm

Meiosis:mG1,mS,mG2,mM.mBeforemreplication mphase,mchromosomesmhavemonemchromati
dmandmaftermreplication,mchromosomesmhavem2msistermchromatids,mheldmtogethermatmthe
mcentromere.mEndsmwith m4mdaughtermcellsmwith m1mchromatid meach.m-mmmANSWER mm




Keymdifferencesmfrommmitosis:mHomologsmpairm(ProphasemI),mSistermcentromeresmactma
smamsinglemcentromerem(MetaphasemI),mSistermchromatidsmremainmattachedm(Anaphase
mI),mMeiosismImismamreduction mdivision-

mmeaningmstartmmeiosismImwithm46munitsmandmendmmeiosismImwith m23munitsm(m2mchromati

dsmin meachmhaploidmdaughtermcells),mMeiosismIImismanmequational mdivisionm(identical mtom
mitosis).m-mmmANSWER mm

Recombination moccursminmProphasemI.mCrossingmovermandmrecombmismExchangemofmho
mologousmsegmentsmbetween mnon-sistermchromatids.m-mmmANSWER mm

HomologuesmmovemapartmduringmanaphasemI-
disjunction.m223mpossiblemcombinationsmofmchromosomes.mIn mcytokinesismI,mCellsmdivi
demintomtwomhaploidmdaughtermcells.mOnemcell mreceivesmmostmof mthemcytoplasmmandmth
emothermbecomesmthemfirstmpolarmbodymwhichmdoesn'tmgomthrough mMeiosismII.mMeiosismI
mendsmaftermovulation.mNonmdysjunction minmmeiosismI:mcanmcausemproblemsmlikemTrisom

ym21.m-mmmANSWER mm

-
Brief minterphasembetweenmfirstmandmsecondmmeioticmdivisions.mNomSmphasemoccursmin m
MeiosismII.m-mmmANSWER mm

-
In mthemsecondmmeioticmdivisionmamsecondmpolarmbodymformsmduringmoogenesis.mIn moog
enesis,meggmismarrestedmin mmetaphasemIImuntil mfertilization.m-mmmANSWER mm

AftermMeiosismtheremismamReductionmof mchromosomemnumberm2nn.m(diploidmvs.mhaploid
mcells)-

mNotation m'n'mhasmtomdomwithmamountmofmDNA m(#of mnucleotides),mnotmthemnecessarilymth

em#mof mchromosomes.m-mmmANSWER mm

,Lecturem2:mPatternsmof mInheritancem-mmmANSWER mm

Medelian mInheritance-
mdetermined mbymamsinglemmajormgene.mBasedmonmindependentmassortment.mDihybrid mcr

ossm(2mgenotypes)mwithmry,mRy,mrY,mRymsetmupmonmbothmsidesphenotypicmratiomof m9:3:3:
1-
yellow mround,mgreenmround,myellow mwrinkled,mgreenmwrinkled,mIf mgetm9:3:3:1myoumknow
mthatmsegregation mismindependent.m-mmmANSWER mm




Multifactorial minheritance-multiplemgeneticmandmnon-geneticmfactorsminvolvedm-
mmmANSWER mm




Compoundmheterozygous:mhasmtwomdifferentmmutantmallelesmformamcharacterm-
mmmANSWER mm




Linkage-
2mgenesmphysicallymnearmeachmothermonmamchromosomemwill mnotmassortmrandomlyminmm
eiosis.mTightlymlinked:mwill mgetm2mtypesmof mgametesmex.mPLmandmpl.mUnlinked:mwillmgetm4
mtypesmof mgametesmPL,mPl,mpL,mpl.m-mmmANSWER mm




Themfrequencymofmrecombinationmbetweenmtwomgenesmismproportionalmtomthemdistancem
between mthemgenes.mThemclosermthemgenesmaremonmthemchromosomemthemlessmlikelymcr
ossingmovermoccurs.mLinkagemmap:m1%mrecombinationm=m1mmapmunitm=m1mcentiMorgan
m(cM),mMapmdistancesmaremadditive.m-mmmANSWER mm




Themnon-
randommassociation mbetweenmallelesmatmtwomlocationsmonmamchromosomemismcalledmlin
kagemdisequilibrium.mIf mthemfrequencymof mchromosomesmwith mAB=Ab=aB=abmthenmthem
genesmareminmequilibrium.mIf mfrequencymof m1mallelemismseenmmorem(AmmoremthanmBmforme
x)mthen mgenesmaremin mlinkagemdisequilibrium.m-mmmANSWER mm

Autosomal mdominantminheritancemExamples:m-mmmANSWER mm

Achondroplasia-
mFGFR3 mmutations,mAlwaysmfull mpenetrance mwithmachondroplasia m(somnormal mparentsm

havemamchildmwith maplasiamthenmit'smamnew mmutation).mHeterozygousmb/cmhomozygotes
musuallymdiemin muterom-mmmANSWER mm




Neurofibromatosis-mNF1m(neurofibromin)mandmNF2m(merlin)mmutations.m-mmmANSWERmm

Incompletemdominance-
mmixedmphenotype.mIn mcasesmofmdisease,mDominantmdisordersmaremmoremseveremin mho

mozygotesmthen minmheterozygotesm(termedmalsom"semidominant")mIe.mFamilial mHyperc
holesterolemia.m-mmmANSWER mm

Co-dominance-
mphenotypicmexpression mof mtwomdifferentmallelesmformamlocusmie.mBlood mtype.m-

mmmANSWER mm

,Autosomal mrecessiveminheritance:mExamples:mCysticmfibrosis,mTay-
Sachsmdisease,mSickle-cell mdiseasem-mmmANSWER mm

Pseudodominance:mtheminheritancemof manmautosomal mrecessivemtraitmmimicsmanmautos
omalmdominantmpattern m-mmmANSWER mm

Malesmaremhemizygousmwith mrespectmtomX-linkedmgenes.m-mmmANSWER mm

X-
linkedmdominantminheritance:mAffectedmfemalesmaremtwicemasmcommon masmaffectedmma
lesmbutmmalesmusuallymmoremseverelymaffectedmormthemdisordermmaymbemlethal minmmales
m(Rettmsyndrome).m-mmmANSWER mm




X-
linkedmrecessive:mincidencemismmuchmhigherminmmalesmandmaffectedmmalesmdomnotmusu
allymtransmitmthemdisordermunlessmmothermismamcarrier.mHeterozygotemfemalesmaremusu
allymunaffected,mbutmsomemmaymexpressmthemconditionmwithmvariablemseveritymasmdeter
minedmbymthempattern mofmXminactivation.mAmsignificantmproportionmofmisolatedmcasesmare
mduemtomnew mmutation m(Duchenne mmuscularmdystrophy-DMD).m-mmmANSWER mm




Pseudoautosomal minheritance-
mgroup mof mgenesmonmtheminactive mxmchromosomemaremNOTminactivated.mDiseasesmass

ociatedmwith mthesemgenesmareminheritedmsimilarmtomautosomal minheritance.m-
mmmANSWER mm




Samemamountmof mX-
linkedmgenemproductsmbetweenmmalesmandmfemalesmachievedmthroughmdosagemcompe
nsation.mLyonmHypothesismstatesmthatmtheminactivemXmismNOTmrandomlymchosenminmeac
h mcell mEx.mAmstructurallymabnormal mXmismpreferentiallyminactivated.mInactivationmismNOT
mcomplete-

msomemgenesmcanmescapeminactivation m(ie.mThosemwithmamfunctional mhomologmon mthem

Y).mInactivation mismNOTmpermanent-
mreversed min mdevelopmentmofmgermmcellsm(notmpassedmonmtomgametes).m-mmmANSWER mm




ThemkeymplayermismthemX-
linkedmgenemXIST→mXm(inactive)mspecificmtranscript.mXISTmismtranscribedmtomproducema
mnon-coding mRNA mthatm"coats" mthemX-

chromosomemandminactivatesmit.mXISTmismonlymexpressedmfrommtheminactivemX.mThemhis
tonesmon mthemcoatedmXmundergommethylationmwhichmcausesmthemchromosomemtomcond
ensem(heterochromatin),mformingmamBarrmbody.m-mmmANSWER mm

-
SomemgenesmdomnotmhavemYmhomologuemandmdomnotmundergominactivationm(e.g.msteroi
dmsulfatasemgene)m-mmmANSWER mm

-Random/skewedminactivationmmaymresultminmaffected/totallymhealthymheterozygotes.m-
mmmANSWER mm




Variablemexpression mof mX-
inactivation:mOn mboth mextremes,mamheterozygousmfemalemwith mrecessivemx-

, linkedmdiseasemcouldmmanifestmthemdisease.mIn mamcasemwith mamdominantmX-
linkedmtrait,min mwhichmalmostmallmofmamfemalesmXmchromosomesmwith mmutation misminacti
ve,mmightmnotmmanifestmthismdisease.mIdentical mtwinsmcouldmevenmhavemdiff mphenotype
smduemtomskewedmXminactivation.m-mmmANSWER mm

Mosaicism-
mX mchromosomeminactivation moccursmrandomlymandminactivation mpattern mismpassedmtom

cell mprogeny.mResult:mfunctionalmmosaicismminmwhichmfemalemismammosaicmwithmrespect
mtomexpression mof mgenesmon mX mchrom.mEx.mCalico mCat,mB m-mdominantmorange,mbm-

mrecessive mgenemblack,mGenesmformwhite:mautosomal.m-mmmANSWER mm




GeneticmHeterogeneitymcanmbemthemresultmof mLocusmHeterogeneitym,mAllelicmHeterogen
eity,mandmModifiermLoci.m-mmmANSWER mm

LocusmHeterogeneity-
mamsinglemdisorder,mtrait,mormpattern mofmtraitsmcausedmbymmutationsminmgenesmatmdifferen

tmchromosomal mloci.mEx.mretinitismpigmentosamhasmautosomal mdominant,mautosomal mre
cessive,mandmX-
linkedmorigins.mHowever,monlymonemmutantmlocusmismneededmformthemphenotypemtomman
ifestm-mmmANSWER mm

Allelicmheterogeneitym-
mManymgeneticmlocimpossessmmoremthanmonemmutantmallele.mIn mthemCFTR mgene,mnearly

m1400mmutationsmfound.mSomemmutationsmcausemclassical mCF m+mpancreaticminsufficien

cym+mcongenitalmabsencemofmvasmdeferens,mothersmcausemlungmdiseasemwith mnormal mp
ancreaticmfxn.mOthermcausemonlymmalemsterility.m-mmmANSWER mm

Modifiermgene:mAmgenemthatmaffectsmthemphenotypicmexpressionmof manothermgene.mSpe
cificmallelesmofmonemormmoremgenesm(modifiermgenes)mcan msometimesmdramaticallymmo
difymthemclinical mseveritymof mthemphenotypemproducedmbymmutationsmin mamdisease-
causingmgene.Thismsourcemof mclinicalmheterogeneitymismoftenmreferredmtomasmgeneticmba
ckground.mEx.mTwinsmwithmthemsamemmutationminmcysticmfibrosismbutmonemismseverelymsi
ckmandmonemonlymmoderatelymsick-mexplainedmbymmodifiermgenes.m-mmmANSWER mm

Candidatemloci mactingmasmmodifiersmformCFTR mmutations:TGFB1m(cytokinemtransformi
ngmgrowth mfactormbmandmMLB2m(Mannose-
bindingmlectin).mDifferentmallelesmof mthesemgenesmmodifymthemseveritymof mCFm-
mmmANSWER mm




Clinical/phenotypicmheterogeneity:mmultiplemphenotypesmofmonemsinglemgenemex.mUSH
2Amgene,mcodesmformproteinmimportantminmdevelopmentmof mtheminnermearmandmretina.mC
an mbemblindmandmdeaf m(typemIImUshermsyndrome)mormjustmblindm(RetinitismPigmentosa).m
-mmmANSWER mm

Othermfactorsmaffection mphenotypemincludemenvironmentalmfactorsmie.mG6PD mmutationm
OR msoil mpH mandmhydrangeamcolor.mAlsomSex-
relatedmfactorsmiemHemochromatosis,mAR,mcausedmbymironmoverload,mismlessmcommonm
in mfemalesmduemtomlowermiron mintake/menstrual miron mloss.m-mmmANSWER mm

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