檢醫題目完整版 醫學六 林立德 1. DNA複製時有關新股DNA中Leading strand的合成下列敘述何者有誤 (A)新股DNA以5`往3`方向合成 (B)朝unwind方向進行合成 (C)不需要DNA ligase參與 (D)會產生Okazaki fragment Ans: (D) bigace 2. Which of the following matching is incorrect? (A) Sickle cell anemia 迳 point mutation inβ-globin chain (B) Chronic myelogenous leukemia 迳translocation between chromosome 9 and 22 (C) Fragile X syndrome 迳increases in trinucleotide repeat (D) Duchenne’s muscular dystrophy 迳deletions with retained reading frame in the gene of dystrophin Ans: D ttmoon 3. 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 kimako 4. 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 檢醫book reading考題(by 蔡萬全) 5. 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 6. 以下何者為是？ B A)分子診斷方法是很強大有用的工具，我們要無限制的推廣應用 B)分子診斷方法選擇的依據主要是對疾病基因的了解和它的異質性(heterogeneity) C)Single-strand conformation polymorphysim(SSCP)可用以診斷點突變，其敏感度(sensitivity)達100% D)當我們採用Linkage analysis時，通常用PCR將檢體放大，再利用特定的探子(probe)直接找出變異的位置。 zimach 7. 以下何者為非？ D A)Epigenetic influence包括imprinting B)Epigenetic influence包括X-chromosome inactivation C)presymptomatic DNA testing可能引發道德爭議 D)carrier screening可以達到100%的篩檢率 thinkingreed 8. 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 9. 以下何者為非？ 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. Jimmy 10. Q: Which of the following was the first disorder whose causative gene was isolated by the process of “reverse genetics” or positional cloning? A. Cystic Fibrosis B. Duchenne Muscular Dystrophy C. Sickle Cell Anemia D. Thalassemia E. Fragile X Syndrome Ans: B Hotchocolate 11. Which of the following statement is false? a) Transcription-mediated amplification (TMA), nucleic acid sequence-based amplification (NASBA), and strand-displacement amplification (SDA) are all isothermal amplification techniques that do not require thermocyclers. b) TMA and NASBA recapitulates the retroviral life cycles in vitro. c) SDA is incapable of detecting trace amounts of DNA or RNA of a particular sequence. d) Initial SDA methodology requires restriction digestion of the sample prior to target amplification. Ans: c --

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