遗传咨询师考试题库终极版

基因变异Somaticcellgeneticdefectscannotbetransmittedtothenextgeneration.对Accordingtocurrentresearches,Singlenucleotidevariants(SNV)andInsertion–deletionvariants(indels)areeasiertobeinterpretedthanothertypesofvariants.对Variantsinintronsdon’taffectthetranscriptionregulationprocess.错Insomegenes,therearemutationhotspotswhichmaycontributealottothediseasepathogenicity.对Non-homologousequalcrossoveryieldsfusiongenes.错PARTII:FILLINTHEBLANKS.6.Humangeneticvariantscanbeclassifiedintofivecategories.ApartfromInsertion–deletionvariants(indels),Blocksubstitutions,andInversionvariants,whataretheresttwocategories?singlenucleotidevariantsandcopynumbervariants7.Effectsofdisease-causingmutationsonfunctionofgeneproductincludefouraspects,whicharediscribedasfollows:lossoffunction,gainoffunction,acquisitionofnovelproperty,andabnormalexpression:heterochronicorectopic.Amongthem,themajorityofthecauseofpathologyislossoffunctionStrandslippagecanbecausedby()andresultsininsertionsanddeletions.simplesequencerepeats9.Splicingprocessesaffectedbymutationsinintronswhichhappeninthereceptorsitesordonorsitesbringaboutintronretention,exonskippingand()activationofcrypticsplicesites10.()mutationsinexoncodingsequencesalwayscreatetruncatedproteinswhichmayhaveapriortendencytoresultinabnomalproteinfunction.Nonsense致病基因的识别填空题AllelesofSNPsthatareclosetogethertendingtobeinheritedtogethercanbecalledas（haplotype）Transgenicanimalscanbesetformodellingdiseasesandunderstandingof（genefunction）多选题3.The3GenerationHumanGeneticMarkersusedforlinkageanalysiscanbelistedarefollows,pleasesorttheminchronologicalorder:RestrictionFragmentLengthPolymorphism(RFLP)，MicrosatelliteMarkers(CARepeats)，SingleNucleotidePolymorphism(SNP)andHaplotypeSingleNucleotidePolymorphism(SNP)andHaplotype，MicrosatelliteMarkers(CARepeats)，RestrictionFragmentLengthPolymorphism(RFLP)MicrosatelliteMarkers(CARepeats)，RestrictionFragmentLengthPolymorphism(RFLP)，SingleNucleotidePolymorphism(SNP)andHaplotypeSingleNucleotidePolymorphism(SNP)andHaplotype，RestrictionFragmentLengthPolymorphism(RFLP)，MicrosatelliteMarkers(CARepeats)4.Positionalcloningisamethodtocloneagenebasedsimplyonknowingitspositioninthegenomebylinkageanalysiswithoutanyideaofthefunctionofthatgene.Wecancarryoutpositionalcloningby3steps,whichcanbelistedinchronologicalorderarefollows.Finemapping，Diseasemapping，CandidategenesFinemapping，Candidategenes，DiseasemappingCandidategenes，Diseasemapping，FinemappingDiseasemapping,Finemapping，Candidategenes窗体底端5.Mutationscreeningstrategyincludes()RT-PCRSSCP/Heteroduplex/dHPLCSequencing/DNAchip6.ResearchandclinicaltestingofinheritedmonogenicdiseasessuchasLCAcanbecarriedoutby()SinglegenetestingTargetedsequencecapturedpanelWholeexomesequencingWholegenomesequencing是非题7.Familiescollection,linkageanalysisandfunctionalstudyofageneareallimportantforpositiondependentcandidatecloningandtheidentificationofacandidategene.truefalse8.aCGH(ArrayComparativeGenomicHybridization)isamethodoftestingforSNP(SingleNucleotideVariation).truefalse9.TheGenomeWideAssociationapproach(GWAS)isamethodbasedonthewholegenomewhichcanbeappliedmainlyforpolygenicdisease.ResearchershaveidentifiedagreatmanyofsusceptibilitygenesthatmaycontributetodiseasepredispositionbyGWAS.truefalse10.TheidentificationofdiseasecausativemutationscanbelargelyassistedbythereferenceforrelateddatabasessuchasOnlineMendelianInheritanceinMan(OMIM),HumanGeneMutationDatabase(HGMD),etc.truefalse遗传病的分子机理填空题DNAsequencethatishomologouswithaknowngenebutnon-functionalcanbecalledasa(pseudogene).Agroupofadjacentgenesthatareidenticalorrelatedcanbecalledasa(genecluster).选择题3.Theeffectsofgenemutationsonproteinfunctioninclude:A.LossofproteinfunctionB.GainofproteinfunctionC.NovelpropertyaquirementD.HeterochronicorEctopicexpressionorboth4.WhichtypeofhumanglobingenesDOESN’Texpressduringprenatalperiod?A.αB.βC.γD.ξ5.Aindividualwhocarriestheβ0/β0genotypewillpresentaphenotypecalled:A．SicklecellanemiaB．HbBart’ssyndromeC．β-thalassemiatraitD．β-thalassemiamajor6.Diseasescanbeduetomutationsinthefollowingdifferentclassesofproteins:A.TransportandstorageB.StructureofcellsandorgansC.ExtracellularhomeostasisD.DevelopmentalgeneexpressionE.ControlofgrowthanddifferentiationF.Intercellularmetabolismandcommunication判断题7.Thalassemiascanariseinthefollowingtypesofmutations:deletionsandsinglenucleotidevariations(SNV).true8.Themutationspectrumdifferencebetweenα-thalassemiaandβ-thalassemiaisthatα-thalassemiaismainlycausedbypointmutationsandβ-thalassemiaismainlycausedbydeletions.false9.Mutationsindifferentgenesofageneclusterresultinthesamediseasesubtype。false10.Themaintypesofinbornerrorsofmetabolism(IEM)includeAminoAcidsMetabolismDisorders,OrganicAcidemias,FattyAcidOxidationDisorders,CarbohydrateMetabolismDisorders,LysosomalStorageDisordersandPeroxisomalDisorders.AsIEMalwaysresultininbalancedconcentrationsofsubstratesandend-productsorby-producsorintermediates,Wecanroughlydiagnosecertaintypeof1.Moleculargenetictestingcanbeclassifiedintotwocategories,inasymptomaticpersonsthetestingisoftena()testingwhichisusedtoident