医学遗传学复习资料.doc

《医学遗传学复习资料.doc》由会员上传分享，免费在线阅读，更多相关内容在工程资料-天天文库。

1、2007级临床医学5班医学遗传学复习资料20050419名词解释：FISH荧光原位杂交遗传异质性染色体多态性探针基因组分子病标记染色体基因治疗基因簇易感性问答题：1、脆性X染色体综合征的临床表现和分子机制2、以镰刀形细胞贫血症为例，说明分子病的致病机理3、某常染色体隐性疾病的患病率为10-6，问a.随机婚配的发病风险b.一个携带者和一个正常人婚配的发病风险c.二级表兄妹(从表兄妹)婚配的发病风险4、计算题：某女子的家族中有多个成员患有DMD(XD)，她的姨妈的儿子和舅父都是死于该病，她生有两个正常的儿子，问再生一个孩子患病的概率是多少？20080630(八年制)名词解释：核型分析同源染色体致癌

2、基因遗传多态性Depletiontreatmentforgeneticdiseases易患性Mosaicism分子病单体型Priorprobabilities(inBayesiananalysis)选择题：1.Whichofthefollowingprenataldiagnosisprocedurescanbeperformedearliest?A.CordocentesisB.MaternalserumscreeningofAFPC.AmniocentesisD.ChorionicVillusSampling2.Therearefourdiseasesbelow,indicatetheone

3、canNOTcuredbybonemarrowtransplantationA.SCID(severcombinedimmuneodeficiency)B.SicklecelldiseaseC.ThalassemiaD.Downsyndrome3.Whichofthefollowingcouldbeacausefor“graft-versus-hostdisease”A.BonemarrowtransplantationB.ProteinreplacementC.DietaryrestrictionD.VitaminB6administration1.Selecttheonecurrently

4、canNOTbeusedasavectorofDNAforgenetherapyA.RetrovirusB.AdenovirusC.LiposomeD.E.coli2.WhichofthefollowingdiseasescanNOTbedetectedbyMSStripletestA.SCIDB.DownSyndromeC.NTDD.Trisomy183.WhichofthefollowingmethodisNOTsuitableforDNAanalysisinprenataldiagnosisA.DNAsequencingB.Immune-assayC.SSCPD.MLPA4.Whicho

5、fthefollowingshouldNOTbetoldbythegeneticcounselingprofessionalsA.RisksofcertaingeneticdiseaseB.RecommendationsonprenataldiagnosisC.OrdertoterminatethecurrentpregnancyD.Explanationsontheresultofprenataldiagnosis5.WhichofthefollowingshouldNOTbeaskedbythegeneticcounselingprofessionalsA.Familyhistoryofc

6、ertaingeneticdiseasesB.AnnualsalaryC.HealthreportsD.Ultrasoundresults6.WhichofthefollowingistheleadingindicationfortakingprenataldiagnosisA.MaternalageB.PreviousmiscarriagehistoryC.OccupationofparentsD.Socialbehavior7.IndicatethesamplestakenfromfollowingprocedurescanNOTbeusedforchromosomalanalysis.A

7、.AminocentesisB.CVSC.CordocentesisA.MSS单选答案：1-5DDADA6-10BCBAD问答题：1、白化病近亲婚配患病风险的估计2、p53基因的功能及其激活机制3、分子病的6个机制4、YouareaddressingaNeurofibromatosisAssociationparents’meeting.Aseverelyaffectedwoman,32years