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补充: 刚刚接到学姊的电话,说我们给他的档案只有五题 = = 所以明天要再把题目给她喔。 检医book reading考题(by 蔡万全) Which of the following statements is False? A. Analysis of the mutations in tumor suppressor and DNA repair genes is more complex than that of oncogene because disease-causing mutations in former genes are numerous and widespread, sometimes unique to a particular family, and often necessitate a costly search of multiple DNA sequences until the mutation is found. B. In many cases, functional studies of the putative disease-causing mutation are not possible or are impractical, and the potential significance of the mutation can only be assessed by large clinical population studies carried out over long periods of time. C. Periodic colonoscopy and removal of polyps is effective in preventing colorectal cancer in mutation-positive individuals with hereditary nonpolyposis colon cancer. D. Mutations in HFE impair modulating enteric absorption of dietary iron and lead to excess iron absorption and storage in tissues, eventually development of hemochromatosis. E. Mitochondrial DNA is transmitted strictly by paternal inheritance, since the mitochondria of a ovum are not incorporated into the zygote. Ans: E yubear 以下何者为是? B A)分子诊断方法是很强大有用的工具,我们要无限制的推广应用 B)分子诊断方法选择的依据主要是对疾病基因的了解和它的异质性(heterogeneity) C)Single-strand conformation polymorphysim(SSCP)可用以诊断点突变,其敏感度 (sensitivity)达100% D)当我们采用Linkage analysis时,通常用PCR将检体放大,再利用特定的探子(probe)直 接找出变异的位置。 zimach 以下何者为非? D A)Epigenetic influence包括imprinting B)Epigenetic influence包括X-chromosome inactivation C)presymptomatic DNA testing可能引发道德争议 D)carrier screening可以达到100%的筛检率 thinkingreed Which of the following is incorrect? C (a) To detect fragile X syndrome, a Southern blot of EcoR/EagI-digested DNA from a normal (homozygous) woman shows two bands. (b) Sizing of trinucleotide repeat by gel electrophoresis following PCR is able to resolve alleles differing in size by just one repeat unit. (c) Prader-Willi syndrome/Angelman syndrome are most caused by point mutation. (d) Southern blotting with methyl-sensitive retriction enzyme cannot distinguish between deletional or uniparental disomy mechanisms of Prader-Willi syndrome. brett 以下何者为非? D (A) In liquid hybridization assay, both the sample and probe interact in solution. (B) Southern hybridization combines electrophoretic separation of test nucleic acid with transfer to a solid support and subsequent hybridization. (C) RFLP assay utilizes the sequence recognition property of restriction enzymes to demonstrate variations or polymorphism in the DNA sequence of two samples. (D) Dot/Blot hybridization is simply detection of specific genetic information within a morphologic context. 医学六 林立德 DNA复制时有关新股DNA中Leading strand的合成下列叙述何者有误 (A)新股DNA以5`往3`方向合成 (B)朝unwind方向进行合成 (C)不需要DNA ligase参与 (D)会产生Okazaki fragment Ans: (D) Which of the following matching is incorrect? (A) Sickle cell anemia ' point mutation inβ-globin chain (B) Chronic myelogenous leukemia 'translocation between chromosome 9 and 22 (C) Fragile X syndrome 'increases in trinucleotide repeat (D) Duchenne's muscular dystrophy 'deletions with retained reading frame in the gene of dystrophin Ans: D Which of the following about PCR is true? a)PCR cycle consists of specifically designed primers, targeted DNA & heat-labile DNA polymerase and processes with three steps: denaturation, annealing, extension. b)Nested PCR can increase both the sensitivity and specificity of PCR and decrease the rate of contamination. c)Real-time PCR describes methods by which the target amplification and detection step occur simultaneously in the same tube. d)cPCR is the coamplification in the same reaction tube of two different templates of equal or similar lengths and with the different primer binding sequences. ans:c Choose the correct one. A. It does not need a thermostable DNA polymerase to fill the short gap of gapped LCR. B. In the invader technology, the overlap in the invader probe need more than one base pair, so point mutation is not easily detected by invader probe. C. To use iso-C and iso-G in branched DNA is to increase the background signal. D. In signal amplification methods, the increased analytical sensitivity comes from increasing the concentration of label molecules attached to the target nucleic acid, not the increased concentration of probe or target. Ans:D 还有几个人的有缺我这边没有,待补充。 --



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