遗传学试题资料：期中测试.doc

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1、1.Wichofthefollowingbestexplainsvariableexpressioninmitochondrialdiseases?(2.0分)A.locusheterogeneityB.heterozygosityC.heteroplasmyD.modifierlociE.imprinting2.Someautosomalrecessivediseaseshaveahighprevalenceinlargepopulations,eventhoughtheyareoftenfatal(e.g.,sicklecelldiseaseinAfricans,c

2、ysticfibrosisinEuropeans).Whichofthefollowingisthemostlikelyexplanationforthisphenomeno(2.0分)A.InbreedingB.HighmutationratesinspecificpopulationsC.SurvivaladvantageinheterozygouscarriersD.SurvivaladvantageinindividualswhoarenormalhomozygotesE.Noneoftheabovemechanismsexplainthepattern3.Yo

3、uwouldbelikelytoobservethelowestheritabilityscorein (2.0分)A.Cysticfibrosis囊性纤维化ARB.Spinabifida脊柱裂C.Cleftlip/palate唇裂腭裂1.4/1000D.Mumps腮腺炎E.Congenitalheartdisease先天性心脏病4.Whichofthefollowingwouldyounotexpecttoseeinatypicalmultifactorialdisorder?(2.0分)A.Positivecorrelationbetweenprevalenceof

4、thedisorderinthepopulationandsiblingrecurrencerisk正相关B.RapiddecreaseofrecurrenceriskwithmoreremotedegreesofrelationshipC.Co-occurrenceofthedisorderinfathersandsonsD.Siblingrecurrenceriskof50%E.Higherconcordanceinmonozygotictwinsthanindizygotictwins5.Whichofthefollowingdiseasesisagoodexam

5、pleoflocusheterogeneity? (2.0分)A.Prader-Willisyndrome第15号染色体缺失B.MyotonicdystrophyC.Osteogenesisimperfecta成骨发育不全ADD.DuchennemusculardystrophyDMDE.HemophiliaA血友病6.Mutationsinfibrillingenecancause(2.0分)P80A.RetinoblastomaB.AchondroplasiaC.Neurofibromatosistype1D.HuntingtondiseaseE.Marfansyn

6、drome7.Bobhashypophosphatemicrickets（低磷酸盐血症）.HeandhiswifeJillcometothegeneticsforcounselingbecausetheywouldliketohavechildren.Whatcanyoutellthemaboutthelikelihoodthatanydaughterswillbeaffected?Anysons?(2.0分)A.50%daughters,100%sonsB.100%daughters,50%sonsC.0%daughters,100%sonsD.100%daughte

7、rs,0%sons8.Yourpatientisa5-year-oldgirlwhoappearstohaveDuchennemusculardystrophy.Whatisthemostlikelygeneticexplanationforthisdiseaseinagirl?(2.0分)A.Shehasa46,XYkaryotypewithsexreversal.B.Shehasskewed（偏离的；倾斜的）Xinactivation.C.ShehastwoindependentDMDmutations.D.Shehasadomina