医学遗传学测试资料：肿瘤遗传学.docx

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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。（60分）A.显性P211B.共显性C.中间显性D.不规则显性E.延迟显性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（）。（60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P219,220Dar

2、a is a 40 year-old woman who has just been found to have breast cancer. Because of additional family history of breast cancer, her sisters are concerned that an inherited mutation is responsible for the cancer. A clinical geneticist discusses these concerns with the family and they decide to proceed

3、 with genetic testing. What type of sample would she get from Dara s doctor to do this testing?（80 分）A.Biopsy of the tumorB.Whiteblood cellsC.Redblood cellsD. BonemarrowE.Cellline from the tumorA.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2. Which of the following types of mutations would you expect to cause canc

4、er when it occurs in an oncogene?（8.0 分）A. A loss of function mutationB.Again of function mutationC.Gene amplification 基因增值D.Aor BE.B or C （原癌基因扩增）3. Jill is concerned about her risk of hereditary breastcancer. Which of the following family histories would be most likely to be associated with a germ

5、line mutation that would predispose Jill to breast cancer（If she inherited that mutation）?（8.0 分）A.Breast cancer in JilFs paternal aunt at age 40 years and in her paternalgrandmother at age 45 yearsB.Breast cancer in Jills mother at age 60 yearsC.Breast cancer in Jills paternal grandmother at age 60

6、 years and in hermaternal grandmother at age 62 yearsD.Breastcancer in JilFs paternal aunt at age 55 years and prostate cancer in her father at age 62 yearsE.Breastcancer in Jilfs mother at age 60 years and prostate cancer in her father atage 62 years4. A 4-year old girl is seen by a dermatologist.T

7、he child has fair skin with many freckled areas and is very sensitive to light.She sunburns easily and does not like to play outdoors.Some of her freckled are asseem large and one is irritated.A defect in which DNA repair process is mos tlikely the cause of her photosensitivity? （8.0 分）A.Baseexcisio

8、n repairB.MismatchrepairC.Non-homologousend joining D.Nucleotideexcision repair. E.SOSrepair5. A colonoscopy on a 20-year-old man reveals several hundred growths on the epithelial surface of the large bowel. Histologic examination of biopsied tissue revealed mild to moderate cellular dysplasia. DNA

9、analysis is most likely to reveal a mutation in which gene? （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.MLH1 FAP家族性腺瘤性息肉病D.RAS G ProteinE.TP53 Li-Fraumeni Syndromes6. Jack* father and son were both affected byretinoblastoma when they were children, but Jack himself was not.Which of the following i

10、s the most likely explanation for the incomplete penetrance of the RB mutation in Jack, who is an obligate carrier of the mutation? （8.0 分）（2 次打击）A.No somatic mutation in RB occuiTed in any of Jacks retinal cellsB.Aspontaneous reversion of the RB mutation occurred early in Jacks development C.Jackin

11、herited a second site mutation that counteracts the RB mutation D.Jackcarries a duplication of his wild-type copy of RB E.Jackcarries a somatic deletion of the mutant RB alleleThus far, two genes have been found that can cause autosomal dominant breast cancer （one on chromosome 13 and one on chromos

12、omel7）.This is best described as an example of: （8.0 分）A.LinkageB .AllelicheterogeneityC.SyntenyD.LinkagedisequilibriumE.LocusheterogeneityAutosomal dominant breast cancer caused by mutationsin the BRCA1 gene （chromosome 17） is characterized by:（8.0 分）中英文书的中文翻译A.relativel yearly age of onset of the

13、diseaseB.increased incidence of breast cancer in males BRCA1对男性无影响p395C.increased risk of ovarian cancer （卵巢癌）D.increased risk of small cell lung cancer（肺小细胞癌）E.Aand CWhich of the following is true of autosomal dominantbreast cancer?（8.0 分）A.Itis characterized by locus heterogeneityBit accounts for

14、nearly half of all breast cancer cases in the United StatesC.It can be detected by hybridization with a single oligonucleotide probe 它可以由 一个单一的寡核甘酸探针杂交检测？D.Penetranceis close to 100%, with nearly all gene carriers developing breast cancer by age80E.Autosomaldominant breast cancer affects females but

15、 not males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Concerning retinoblastoma, which of the following is not predicted by thetwo-hit model? （8.0 分）P225A.sporadictumors will be unifocalB.inheritedtumors will be multifocalC.penetranceis incompleteD.two copies of the gene must be disabled for tumor expression to occu

16、rE.imprinting will be observed7. Phosphorylation of gene product by cyclin-dependentkinases （CDK）; binding of gene product to transcription factors such as E2F （8.0 分）A.RetinoblastomaB. AchondroplasiaC.Neurofibromatosistype 1D.HuntingtondiseaseE.Marfansyndrome由细胞信号、CKI、CDK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一个将细 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。若无进一步的突变，肿瘤细胞可因进一步的分化而停止分裂，肿瘤静止