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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 P211 B.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.
2、相互融合 E.全部失活 P219,220 3.Dara 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
3、 they decide to proceed with genetic testing.What type of sample would she get from Daras doctor to do this testing?(8.0分)A.Biopsy of the tumor B.Whiteblood cells C.Redblood cells D.Bonemarrow E.Cellline from the tumor A.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.Which of the following types of mutations
4、would you expect to cause cancer when it occurs in an oncogene?(8.0分)A.A loss of function mutation B.Again of function mutation C.Gene amplification 基因增值 D.Aor B E.B or C（原癌基因扩增）5.Jill is concerned about her risk of hereditary breastcancer.Which of the following family histories would be most likely
5、 to be associated with a germline mutation that would predispose Jill to breast cancer(If she inherited that mutation)?(8.0分)A.Breast cancer in Jills paternal aunt at age 40 years and in her paternalgrandmother at age 45 years B.Breast cancer in Jills mother at age 60 years C.Breast cancer in Jills
6、paternal grandmother at age 60 years and in hermaternal grandmother at age 62 years D.Breastcancer in Jills paternal aunt at age 55 years and prostate cancer in her father at age 62 years E.Breastcancer in Jills mother at age 60 years and prostate cancer in her father atage 62 years 6.A 4-year old g
7、irl is seen by a dermatologist.The 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 photos
8、ensitivity?(8.0分)A.Baseexcision repair B.Mismatchrepair C.Non-homologousend joining D.Nucleotideexcision repair.E.SOSrepair 7.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 mod
9、erate cellular dysplasia.DNA analysis is most likely to reveal a mutation in which gene?(8.0分)A.APC 家族性结肠息肉症 P207 B.DCC 家族性非息肉性结肠癌 P223 C.MLH1 FAP 家族性腺瘤性息肉病 D.RAS G Protein E.TP53 Li-Fraumeni Syndromes 8.Jacks father and son were both affected byretinoblastoma when they were children,but Jack himsel
10、f was not.Which of the following is 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 occurred in any of Jacks retinal cells B.Aspontaneous reversion of the RB mutation occurred ear
11、ly in Jacks development C.Jackinherited 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 allele 9.Thus far,two genes have been found that can cause autosomal dominant breast cancer(one on
12、 chromosome 13 and one on chromosome17).This is best described as an example of:(8.0分)A.Linkage B.Allelicheterogeneity C.Synteny D.Linkagedisequilibrium E.Locusheterogeneity 10.Autosomal 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.r
13、elativel yearly age of onset of the disease B.increased incidence of breast cancer in males BRCA1 对男性无影响 p395 C.increased risk of ovarian cancer (卵巢癌)D.increased risk of small cell lung cancer （肺小细胞癌）E.Aand C 11.Which of the following is true of autosomal dominantbreast cancer?(8.0分)A.Itis character
14、ized by locus heterogeneity B.It accounts for nearly half of all breast cancer cases in the United States C.It can be detected by hybridization with a single oligonucleotide probe它可以由一个单一的寡核苷酸探针杂交检测？D.Penetranceis close to 100%,with nearly all gene carriers developing breast cancer by age80 E.Autoso
15、maldominant breast cancer affects females but 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 12.Concerning retinoblastoma,which of the following is not predicted by the two-hit model?(8.0分)P225 A.sporadictumors will be unifocal B.inheritedtumors will be multifocal C.penetranceis incomplete D.two copies of th
16、e gene must be disabled for tumor expression to occur E.imprinting will be observed 13.Phosphorylation of gene product by cyclin-dependentkinases(CDK);binding of gene product to transcription factors such as E2F(8.0分)A.Retinoblastoma B.Achondroplasia C.Neurofibromatosistype 1 D.Huntingtondisease E.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