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1、1. 癌基因在细胞水平呈。，一个等位基因的突变足以使正常细胞发生恶变。RaS蛋白是一个位于细胞膜内部，存在于细胞膜上信号转导蛋白。当它被细胞外因子激活时，便会从GDP状态变为有活性的GTP状态，产生刺激细胞生长的信号。而突变的RaS蛋白始终处于被激活的GTP活性状态。现已在许多肿瘤中发现了ras基因的点突变。（6.0分）A.显性P211B.共显性C.中间显性D.不规则显性E.延迟显性2. 尽管在大多数情况下，这些家族性肿瘤呈常染色体显性遗传，但其发生需要相应的肿瘤抑制基因的基因座上两个等位基因的。（6.0分）A.一个失活B.一个扩增C.全部扩增D.相互融合E.全部失活P219,2203. Da
2、raisa40year-o1dwomanwhohasjustbeenfoundtohavebreastcancer.Becauseofadditiona1fami1yhistoryofbreastcancer,hersistersareconcernedthataninheritedmutationisresponsib1eforthecancer.Ac1inica1geneticistdiscussestheseconcernswiththefami1yandtheydecidetoproceedwithgenetictesting.Whattypeofsamp1ewou1dshegetfr
3、omDara,sdoctortodothistesting?（8.0分）A.BiopsyofthetumorB.Whiteb1oodce11sC-Redb1oodce11sD.BonemarrowE.Ce111inefromthetumorA.肿瘤活检B.血白细胞C.血红细胞D骨髓E大肠杆菌细胞从肿瘤4. Whichofthefo11owingtypesofmutationswou1dyouexpecttocausecancerwhenitoccursinanoncogene?（8.0分）A.A1ossoffunctionmutationB.AgainoffunctionmutationC.G
4、eneamp1ification基因增值D.AorBE.BorC（原癌基因扩增）5. Ji11isconcernedaboutherriskofhereditarybreastcancer.Whichofthefo11owingfami1yhistorieswou1dbemost1ike1ytobeassociatedwithagerm1inemutationthatwou1dpredisposeJi11tobreastcancer（Ifsheinheritedthatmutation）7（8.0分）A.BreastcancerinJi11,spaterna1auntatage40yearsa
5、ndinherpaterna1grandmotheratage45yearsB.BreastcancerinJi1smotheratage60yearsC.BreastcancerinJi11spaterna1grandmotheratage60yearsandinhermatema1grandmotheratage62yearsD-BreastcancerinJi11spaterna1auntatage55yearsandprostatecancerinherfatheratage62yearsE.BreastcancerinJi11smotheratage60yearsandprostat
6、ecancerinherfatheratage62years6. A4-yearo1dgir1isseenbyadermato1ogist.Thechi1dhasfairskinwithmanyfreck1edareasandisverysensitiveto1ight.Shesunburnseasi1yanddoesnot1iketop1ayoutdoors.Someofherfreck1edareasseem1argeandoneisirritated.AdefectinwhichDNArepairprocessismost1ike1ythecauseofherphotosensitivi
7、ty?（8.0分）A.BaseexcisionrepairB-MismatchrepairC.Non-homo1ogousendjoiningD-Nuc1eotideexcisionrepair.E.SOSrepair7. Aco1onoscopyona20-year-o1dmanrevea1ssevera1hundredgrowthsontheepithe1ia1surfaceofthe1argebowe1.Histo1ogicexaminationofbiopsiedtissuerevea1edmi1dtomoderatece11u1ardysp1asia.DNAana1ysisismos
8、t1ike1ytorevea1amutationinwhichgene?（8.0分）A.APC家族性结肠息肉症P207B.DCC家族性非息肉性结肠癌P223C.M1H1FAP家族性腺瘤性息肉病D.RASGProteinE.TP531i-FraumeniSyndromes8. Jack,sfatherandsonwerebothaffectedbyretinob1astomawhentheywerechi1dren,butJackhimse1fwasnot.Whichofthefo11owingisthemost1ike1yexp1anationfortheincomp1etepenetranc
9、eoftheRBmutationinJack,whoisanob1igatecarrierof,themutation?（8.0分）（2次打击）A.NosomaticmutationinRBoccurredinanyofJacksretina1ce11sB-AspontaneousreversionoftheRBmutationoccurredear1yinJack,sdeve1opmentCJackinheritedasecondsitemutationthatcounteractstheRBmutationDJackcarriesadup1icationofhiswi1d-typecopy
10、ofRBEJackcarriesasomaticde1etionofthemutantRBa11e1e9. Thusfar,twogeneshavebeenfoundthatcancauseautosoma1dominantbreastcancer（oneonchromosome13andoneonchromosome17）.Thisisbestdescribedasanexamp1eof:（8.0分）A.1inkageB.A11e1icheterogeneityC.SyntenyDe1inkagedisequi1ibriumE.1ocusheterogeneity1（）.Autosoma1d
11、ominantbreastcancercausedbymutationsintheBRCA1gene（chromosome17）ischaracterizedby:（8.0分）中英文书的中文翻译A.re1ative1year1yageofonsetofthediseaseBJncreasedincidenceofbreastcancerinma1esBRCA1对男性无影响p395CJncreasedriskofovariancancer（卵巢癌）DJncreasedriskofsma11ce111ungcancer（肺小细胞癌）E.AandC11. Whichof,thefo11owingis
12、trueofautosoma1dominantbreastcancer?（8.0分）A.Itischaracterizedby1ocusheterogeneityB.Itaccountsfornear1yha1fofa11breastcancercasesintheUnitedStatesC.Itcanbedetectedbyhybridizationwithasing1eo1igonuc1eotideprobe它可以由一个单一的寡核苜酸探针杂交检测？D.Penetranceisc1oseto100%,withnear1ya11genecarriersdeve1opingbreastcance
13、rbyage80E-Autosoma1dominantbreastcanceraffectsfema1esbutnotma1es男性和女性都可以遗传和传播常染色体显性遗传的患癌易感性12. Concerningretinob1astoma,whichofthefo11owingisnotpredictedbythetwo-hitmode1?（8.0分）P225A.sporadictumorswi11beunifoca1BJnheritedtumorswi11bemu1tifoca1C.penetranceisincomp1eteD.twocopiesofthegenemustbedisab1e
14、dfortumorexpressiontooccurEJmprintingwi11beobserved13. Phosphory1ationofgeneproductbycyc1in-dependentkinases（CDK）;bindingofgeneproducttotranscriptionfactorssuchasE2F（8.0分）A.Retinob1astomaBAchondropIasiaC-Neurofibromatosistype1D-HuntingtondiseaseE.Marfansyndrome由细胞信号、CKkCDK和细胞周期素、Rb蛋白家族、E2F蛋白、细胞周期相关基因共同组成了个将细胞信号逐级传递给细胞周期相关基因的调节通路，即Rb通路。目前已证实人类所有肿瘤均存在Rb通路的异常。3.视网膜母细胞瘤发生的多阶段性（1）启动阶段：Rb基因经2次突变而失活，启动整个恶变过程,首先形成良性的视网膜细胞瘤。若无进步的突变，肿瘤细胞可因进步的分化而停止分裂，肿瘤静止
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