Mammalian Final Questions And Answers

Mammalian Final Questions And
Answers
Aberrantttypet2timmune
responsest-tCORRECTttANSWER-associated
withtallergictconditions
characterizedtbytchronic
tissuetinflammation,
includingtatopic
dermatitis

Advantagestoftmicetastmodeltorganismst-tCORRECTttANSWER-Mammal
•tSmalltsizet(25t-t40g)
•t1/10tsizetofttypicaltrat
•tShorttgenerationst(~2t-t2.5tyears)
•t10tweekstfromtbirthttotgivingtbirth
•tBreedtyear-round
•t~19tdaystgestation
•tLargetlitters
•t5t-t10tpupstpertlitter
•tEasetoftmaintenance
•tFewtnutritionaltrequirements
•tSyntenytwiththumans
•tExtensivetmolecularttoolbox

allelet-tCORRECTttANSWER-
atparticulartformtoftthetsequencetoccurringtattatlocust("genetcopy")

APOE4t-tCORRECTttANSWER-genetproductthasthightaffinitytfortbeta-
amyloid.tpresenttintseniletplaquestandtincreasestrisktfortAD

APP,tPSEN1,tPSEN2t-tCORRECTttANSWER-
affecttAß40/Aß42tratiotbytincreasingtthetproportiontoftAß42
•tAß42tistmoretfibrillogenictthantAß40tandtleadsttotearliertoligomer/fibril
formation

associationt-tCORRECTttANSWER-case-controltsampletoftunrelateds,
analyzedtfortalleletfrequencytdifferences

, assortativetmatingt-tCORRECTttANSWER-
thettypetoftmatingtthattoccurstwhentantorganismtselectstatmatingtpartnertthattresemblestitsel
ft-tphenotype.tcreatestLD

atopict(allergic)tdiseaset-tCORRECTttANSWER-consiststoftatopictdermatitist(AD,tattypetof
eczema),tallergictrhinitis,tasthma,tandtfoodtallergy

autosomaltdominanttaortictdissectiont-tCORRECTttANSWER-
Atmissensetmutationtintlysyltoxidaset(LOX)twas
identifiedtastthetmosttlikelytcausetoftdisease

BCR-ABLtnegativetMPNst(PV,tET,tPMF)taretsomewhattmoretcomplex:t-
tCORRECTttANSWER--tSharedthallmarktoftmutationstactivatingtJAK-STATtsignaling,tyet

progressionttotsAMLtmaytrelytontalternatetmechanisms
-tTargetedtinhibitorstoftJAK2tprovidetsymptomatictbenefittbuttdotnot
appearttotmodifytthetunderlyingtdisease
-tSecondarytmutationst(andtthetspecifictordertintwhichttheytaretacquired)
maytmodulatetthetspecifictMPNtphenotype

C90RF72texpansiont-tCORRECTttANSWER--FTD-TDP
-ubiquitintbindtproteintp62tandtTDP43tpathologyt
-tfunctionaltimplicationtistattmRNAtlevelt-
>tpredictedttotdecreasetusetoftendogenoustpromoter

cardinaltprinciplestintethicst-tCORRECTttANSWER-Respecttfortindividualtautonomy:tan
individual'strightsttotcontrolthistorther
medicaltcaretandtmedicalt(incl.tgenetic)
informationt(freetoftcoercion)
Beneficence,tdoingtgood
Avoidancetoftmaleficence,t"firsttoftall,
dotnotharm"t(fromtthetLatin,tprimum
nontnocere)
Justice,tensuringtthattalltindividualstare
treatedtequallytandtfairly
Complextethicaltissuestarisetwhen
thesetprinciplestaretperceivedttotbetin
conflicttwithtonetanother

CHD8t-tCORRECTttANSWER-
foundtinvolvedtintdetnovotmutationstintautism.tphenotypetoftmacrocephaly,tsleeptdisturbanc
es,tGItissues

CMLtistatrelativelytsimpletdisease:t-tCORRECTttANSWER--
tPrimarilytdriventbytatsingletgenetictaberration:tBCR-ABL

-tTherefore,tspecificttargetingtoftBCR-ABLtisthighlyteffectivetclinically
-tAccordingly,tresistancettotABLtTKIsttypicallytoccurstviatthetdevelopment