With 100% Correct Answers
TypesTofTDNATVariationT-TCorrectTAnswer--
TsingleTnucleotideTvariantT(SNV)
-TsmallTnucleotideTinsertion/deletion
-TdynamicTmutations
-Tmicrosatellite
-TcopyTnumberTvariationT(CNV)
SingleTNucleotideTVariantsT(SNVs)T-TCorrectTAnswer--
TmostTcommonTtypeTofTsequenceTvariation
-T>3T000T000TperTperson
-TcanTbeTbenignTorTdiseaseTcausing
InitiationTCodonT(StartTCodon)T-TCorrectTAnswer-AUGT(methionine)
StopTCodonsT-TCorrectTAnswer-UGA,TUAA,TUAG
20T-TCorrectTAnswer-numberTofTaminoTacids
64T-TCorrectTAnswer-numberTofTdifferentTcodons
,SNVTEffectsT-TCorrectTAnswer--TnucleotideTsubstitutionsTwithinTgenes
-Tduplications/deletions
TypesTofTNucleotideTSubstitutionsT-TCorrectTAnswer--
TsilentT(synonymous)
-TmissenseT(non-synonymous)
-Tnonsense
-TreadTthrough
Silent/SynonymousTSubstitutionsT-TCorrectTAnswer-
DNATsequenceTchangeTdoesn'tTalterTtheTaminoTacidTcoded
Missense/Non-synonymousTSubstitutionT-TCorrectTAnswer-
DNSTsequenceTchangeTaltersTtheTaminoTacidTcoded
NonsenseTSubstitutionT-TCorrectTAnswer-
DNATsequenceTchangeTresultsTinTaTstopTcodon
Readthrough/NonstopTSubstitutionT-TCorrectTAnswer-
DNATsequenceTchangeTresultsTinTaTstopTcodonTloss
FrameshiftTMutationT-TCorrectTAnswer--
TresultsTfromTsmallTduplications/deletions
-TnumberTofTbasesTisTnotTdivisibleTbyTmultiplesTofT3
, DynamicTMutationsT-TCorrectTAnswer--
TmajorTcauseTofTneurologicalTdisorders
-
TexpansionTofTaTsimpleTrepeatTinTcodingTorTnoncodingTregionsT(repeatT
expansion)
-Treduced-penetranceTallelesT&TvariableTexpressivity
RepeatTExpansionsT-TCorrectTAnswer--TdynamicTmutations
-TDNATsequencesTrepeatedTmultipleTtimesTinTaTrow
AnticipationT-TCorrectTAnswer--
TearlierTageTatTonsetTofTdiseaseTthroughoutTsuccessiveTgenerations
Huntington'sTDiseaseT-TCorrectTAnswer-
showsTanticipationTthroughTpaternalTinheritance
FRAXT&TDM1T-TCorrectTAnswer-
showsTanticipationTthroughTmaternalTinheritance
CMT1AT-TCorrectTAnswer--TlargeTCNVTduplication
-TprogressiveTperipheralTmotorT&TsensoryTneuropathy