遗传学试题资料：Medical genetics.docx

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1、1. 外显子与内含子接头序列为_______。 (6.0分)A. 5’GT-AT3’B. 5’GT-AG3’C. 5’GG-AT3’D. 5’AG-GT3’2. Whichofthefollowingstatementaboutpolymorphysimis not correct? (6.0分)A. MinisatellitesandMicrosatellitesarenottherepeatDNAsequenceinthehumangenomeandbothcannotbeusedaspolymorphysi

2、mmarker.B. RFLPisthe1stgenerationofmarkersusedinhumansC.Singlenucleotidepolymorphisms(SNPs)occuraboutonceevery500-1000bpinthe humangenome.  D. RestrictionRFLPMappingcanbecombinedwithSouthernBlotAnalysistodetectthedifferencesinDNAsamples.3. ThehypotheticalSout

3、hernblotshowbelowillustratesaDNA“fingerprinting”analysistoexaminepaternity,wherematernal(M),child(C),andpaternal(F)DNAsampleshavebeenrestricted,blotted,andhybridizedsimultaneouslytotheprobeD1S220andD7S123.(DNAmarkeristhestandardladder).Thedistributionsofrestr

4、ictionfragmentallelessuggest  (6.0分)A. ThechildisadoptedB. Falsematernity(i.e.babyswitchedinthenursery)C. FalsepaternityD. CorrectmaternityandpaternityE. Noneoftheabove4. Geneissplit,alternatewiththeexonsandtheintrons. (6.0分)A. Intronsarethenon-encodingsequen

5、cesandthecorrespondingRNAsequencewillberemovedfrommRNA.TheirmutationsdonotinfluencethesplicingofRNAandaffecttheproductionofmRNAB. ExonsaretheencodingsequencescorrespondingtothesequenceofmRNAandtheirmutationswillinfluencetheformationofproteins.C. Thenumbersofe

6、xonsandintronsinageneareN+1andNrespectively.Exonsarevariableandintronsareconserved.D. Splicesiteislocatedinthejunctionregionofintronandexon,whereintronalwaysstartsatATandendsatCG.（P30，A中情况只是一般的，也有例外。内含子GT——AG）5.  Anucleotidesubstitutioncannotcausewhichofthefo

7、llowing? (6.0分)A. nonsenseB. FrameshiftC. missenseD. samesense6. IfthesequenceofnucleotidesinageneisT-T-A-C-G-A-G,thesequenceofnucleotidesinmRNAsynthesizedbyitis (6.0分)A. T-T-A-C-G-A-GB. A-A-U-G-C-U-CC. A-A-T-G-C-T-CD. A-A-T-G-C-T-GE. T-T-U-G-C-U-G7. Meiosis1

8、isknownasthe (6.0分)(减数分裂)A. reductiondivisionB. diploiddivisionC. sexualdivisionD. equilibrationdivision8. Thehereditarycharacteristicsaretransmittedasunitswasdiscoveredby (6.0分)A. Mendel