Chapter 11 Mutation Study Questions

Chapter 11 Mutation
Study Questions 1. The most common cause of the blood clotting disorder, factor XI deficiency, is a(n): A. Missense mutation B. Translocation C. Expanding triplet repeat D. Nonsense mutation E. Point mutation that does not affect the amino acid sequence 2. Huntington disease is caused by a(n): A. Deletion B. Translocation C. Expanding triplet repeat D. Point mutation E. RNA induced silencing complex 3. Fragile X syndrome is caused by a(n): A. Deletion B. Translocation C. Expanding triplet repeat D. Point mutation E. Brittle nucleotides 4. Aortic aneurysm is a serious connective tissue disorder caused by a(n): A. Deletion B. Translocation C. Expanding triplet repeat D. Point mutation E. Missing aorta 5. A chemical or physical agent that causes mutations is called a: A. Mutator B. Tautomer C. Teratomer D. Mutagen E. Triplet codon 6. Estimates of spontaneous or de novo, mutation rates are made using dominant disorders because: A. They will never be detected B. They will not affect offspring C. They are often obvious in the phenotype D. They can be identified by DNA sequencing E. All of these

Chapter 11 Mutation Study Questions

7. Which of the following has the highest rate of spontaneous mutation? A. A virus B. A bacterium C. A mouse D. A human E. An aardvark 8. Mutational hot spots occur most often where the DNA is: A. Unwound and stretched B. Repetitive or symmetrical C. Highly coiled D. Bound by RNA polymerase E. Replaced with RNA in the genome 9. Palindrome sequences are often found at mutation hotspots. Which of the following is a palindrome? A. AAAATTTT B. ATATGCGC C. GATCCTAG D. GATCGATC E. UCGUGGCCUU 10. Copy number variants (CVNs) may affect gene expression, phenotype and health. A. True B. False 11. A mutation that changes the third position in a CUU codon to a C would: A. Profoundly change the protein's conformation B. Result in a frameshift mutation C. Shorten the protein D. Have no effect on the protein E. Also change the first two positions 12. A germline mutation: A. Occurs only in microbes B. Affects a particular subset of cells C. Affects all cells of an individual D. Are expressed only in embryos E. Occurs in bacteria or viruses 13. A somatic mutation: A. Occurs only in microbes B. Affects a particular subset of cells C. Affects all cells of an individual D. Are expressed only in embryos E. Affects sleep cycles
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Chapter 11 Mutation Study Questions

14. Which disease is the result of a somatic mutation? A. Retinoblastoma B. Neurofibromatosis C. Down syndrome D. Huntington's disease E. Bird flu 15. A point mutation alters: A. A single base B. 3 bases C. An amino acid D. A chromosome arm E. Sticky ends 16. Which of the following is a transition mutation? A. ACC CCA B. A G C. GG CC D. A T 17. Which of the following is not a transversion? A. A T B. G C C. C T D. T G E. T A 18. Which type of mutation substitutes one amino acid for another? A. Nonsense B. Missense C. Sense D. Presence E. All of these 19. A mutation that changes the codon GAA to UAA is a _______ mutation. A. Missense B. Nonsense C. Frameshift D. Truncation E. Viral

Chapter 11 Mutation Study Questions

20. Which addition to a DNA sequence would not cause a frameshift mutation? A. T B. GC C. GCT D. GGCT E. AAAAA 21. A nonfunctional gene near a similar but functional gene is called a(n): A. Pseudogene B. Expanded gene C. Phenocopy D. Transposon E. Autosome 22. The fact that myotonic dystrophy worsens with each generation is due to: A. A second somatic point mutation B. An increasing number of repeated short DNA sequences C. A translocation between two chromosomes D. Family members perceiving their symptoms as worse E. Declining economic factors 23. Transposable elements: A. Are found only in viruses B. Cannot mutate C. Move D. Are rare E. Are deleted in meiosis 24. For the sequence GTCCTTATTCA, which is a duplication mutation? A. GTCCCA B. GTCCTGATTATTCA C. GTCCTTATATTCA D. GTCCACTTATT 25. A mutation expressed only under certain conditions is: A. Germinal B. Somatic C. De novo D. Conditional E. The worst kind

Chapter 11 Mutation Study Questions

26. Which of the following is not a collagen disorder? A. Osteogenesis imperfecta B. Chondrodysplasia C. Ehlers-Danlos syndrome D. Alport syndrome E. Stickler syndrome 27. Ultraviolet light damages DNA by causing: A. Purine rings B. Strand breaks C. Pyrimidine dimers D. Radioactivity E. Night blindness 28. DNA damage caused by ultraviolet light can usually be repaired by: A. DNA ligase B. Photoreactivation C. Ionizing radiation D. DNA replication E. Chromatin remodeling 29. Which of the following disorders does not involve faulty DNA repair? A. Xeroderma pigmentosum B. Trichothiodystrophy C. Ataxia telangiectasis D. Marfan syndrome E. Hereditary nonpolyposis colon cancer 30. Individuals with _______ develop numerous skin cancers when exposed to sunlight. A. Ataxia tetangiectasis B. Cockayne syndrome C. Werner syndrome D. Xeroderma pigmentosum E. Hereditary nonpolyposis colon cancer 31. Which of the following types of radiation are non-ionizing? A. Gamma radiation B. Ultraviolet light C. Alpha radiation D. Beta radiation E. All of these

Chapter 11 Mutation Study Questions

32. A mutation is a change in the nucleotide base sequence of a gene. A. True B. False 33. A mutation can: A. Prevent the production of a protein B. Cause a protein to be overexpressed C. Impair a protein's function D. Slow the production of a protein E. All of these 34. Some mutations may not affect the phenotype. A. True B. False 35. The best test of the mutagenic potential of a substance would be: A. A family pedigree B. The Ames test C. Beryllium screening D. Karyotype analysis 36. Which of the following neurologic conditions can be both inherited and acquired? A. Alzheimer's disease B. Creutzfeldt-Jakob disease C. Fatal familial insomnia D. Huntington's disease 37. Missense mutations cause large deletions when they: A. Alter a protein's shape and affect its function B. Change a triplet codon that does not affect the reading frame C. Alter an intron splicing site so that an entire exon is deleted D. Invert a segment of a chromosome E. Create a ring chromosome 38. A missense mutation causes sickle cell anemia by: A. Altering the protein's shape and affecting its function B. Changing a triplet codon that does not affect the reading frame C. Altering an intron splicing site so that an entire exon is deleted D. Inverting a segment of a chromosome E. Creating a ring chromosome

Chapter 11 Mutation Study Questions

39. Which of the following would support the hypothesis that a form of Becker muscular dystrophy is caused by a point mutation in the dystrophin promoter? A. The dystrophin protein is found to be normal in affected individuals B. Fewer mRNAs for dystrophin are found in the cells of affected individuals C. Lower levels of dystrophin are linked to muscle weakness D. Site directed mutagenesis in the dystrophin promoter produces a similar condition in mice E. All of these 40. One study of early-onset Alzheimer disease identified a mutation on chromosome 14. The mutation caused an A-to-T change at the first position of codon 146 which resulted in leucine (leu) being substituted for methionine (met). This would be an example of a: A. Transition mutation B. Transversion mutation C. Nonsense mutation D. Conditional mutation E. Change in reading frame