Genetics Ch.16: Gene Mutation

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Genetics Ch.16: Gene Mutation
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2011-12-06 13:38:17
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Genetics Ch.16 : Gene Mutation
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  1. Ames test
    a test using strains of a bacterium, Salmonella typhimurium, to determine if a substance is a mutagen.
  2. anticipation
    the phenomenon in which the severity of an inherited disease tends to get worse in future generations.
  3. base substitution
    a point mutation in which one base is substituted for another base.
  4. chromosome mutation
    a substatial change in a chromosome structure that may affect more than a single gene.
  5. DNA-N-glycosylases
    an enzyme that can recognige an abnormal base and cleave the bond between it and the sugar in the DNA backbone.
  6. forward mutation
    a mutation that changes the wild-type genotyoe into some new variation
  7. frameshift mutation
    a mutation that involves the addition or deletion of nucleotides not in a multiple of three and thereby shifts the reading frame of the amino acid sequence downstream from the mutation.
  8. genome mutation
    a change in chromosome number
  9. hot spot
    sites within a gene that are more likely to be mutated than other locations
  10. induced mutation
    a mutation caused by environmental agents
  11. missense mutation
    a base substitution that leads to a change in the amino acid sequence of the encoded polypeptide
  12. mutagen
    an agent that causes alterations in the structure of DNA
  13. mutation
    a permanent change in the genetic material that can be passed from cell to cell or from parent to offspring.
  14. mutation frequency
    the number of mutant genes divided by the total number of genes within the population
  15. mutation rate
    the likelihood that a gene will be altered by a new mutation
  16. nutral mutation
    a mutation that has no detectable effect on protien funtion and/or no detectable effect on the survival of the organism.
  17. nick translation
    a phenomenon in which DNA polymerase uses its 5' to 3' exonuclease activity to remove a region of DNA and, athe the same time, replaces it with new DNA
  18. nonsense mutation
    a mutation that involves a change from a normal codon to a stop codon.
  19. point mutation
    a change in a single base pair within DNA
  20. position effect
    a change in phenotype tha occurs when the position of a gene is changed from one chromosomal site to a different location.
  21. reversion
    a mutation that returns a mutant allele back to the wild-type allele
  22. silent mutation
    a mutation that does not alter the amino acid sequence of the encoded poloypeptide even though the nucleotide sequence has changed.
  23. somatic cell
    refers to any cell of the body that is not a gamete
  24. spontaneous mutation
    a change in DNA structure that results from random abnormalities in biological processes
  25. suppressor
    a mutation at a second site that suppresses the phenotypic effects os another mutation
  26. thymine dimer
    a mutation involving a covalent linkage between two adjacent thymine bases in a DNA strand
  27. transition
    a point mutation involving a change og a pyrimidine to another pyrimidine (e.g., C -> T), or a puringe to another purine
  28. transversion
    a point mutation in which purine is interchanged with a pyrimidine
  29. trinucleotide repeat expansion
    a type of mutation that involves an increase in the number of tandemly repeated trinucleotide sequences
  30. variant
    individuals of the same species who exhibit different traits. An example is tall and dwarf peas.
  31. wild type
    the allel that is most prevalent in a natural population. For polymorphic genes, there may be more than one wild-type allele
  32. Mutations:
    a) Are permanent changes in the DNA sequence or structure.
    b) Produce allelic variation
    c) Are more likely to be harmful than beneficial.
    d) All of the above.
    e) None of the above
    d) All of the above
  33. A frameshift mutation could be cause by:
    A) None of these.
    B) A deletion of 3bp.
    C) All of these.
    D) A transversion
    E) A transition
    A) None of these.
    (this multiple choice question has been scrambled)
  34. Because the only affect a single amino acid, missense mutations do not have a significant effect on protien function.
    a) True
    b) False
    b) False
  35. Which of the following point mutations would be most likely to affect protien function?
    A) CTT to CTC
    B) AGG to AGA
    C) TAA to TGA
    D) All of these are likely to affect protien function.
    E) CAA to TAA
    E) CAA to TAA
    (this multiple choice question has been scrambled)
  36. A wild type allele:
    A) Is the most favorable allele in the population.
    B) Is the allele that is the most common in the population.
    C) Is the allele with the highest level of functional protien.
    d) All of the above.
    e) None of the above.
    B) Is the allele that is the most common in the population.
    (this multiple choice question has been scrambled)
  37. The mutation which cause sickle cell anemia in humans:
    a) Is a base substitution.
    b) Is a deleterious mutation.
    c) Is a missense mutation.
    d) All of the above.
    e) None of the above.
    d) All of the above.
  38. The gene that is mutated in cases of cystic fibrosis encodes an ion transporter
    protein normally expressed in the respiratory and digestive tracts along with
    other locations. Individuals homozygous for the most common mutation in this
    gene (ΔF508) died at very early ages prior to the advent of advanced medical
    intervention. Despite this, the mutation exists at relatively high frequency in
    populations of European descent. One potential explanation is that heterozygotes
    for such mutations may be relatively immune to the lethal effects of diseases
    such as typhoid fever. Which statement below is most accurate?
    A) The ΔF508 cystic fibrosis mutation is a neutral mutation.
    B) The ΔF508 cystic fibrosis mutation is a conditional mutation
    C) The ΔF508 cystic fibrosis mutation is a suppressor mutation.
    D) The ΔF508 cystic fibrosis mutation is a beneficial mutation.
    E) The ΔF508 cystic fibrosis mutation is a lethal mutation.
    E) The ΔF508 cystic fibrosis mutation is a lethal mutation.
    (this multiple choice question has been scrambled)
  39. In Himalayan rabbits, the ears, feet, and muzzle are pigmented while the rest of
    the body is white. This is because they express an enzyme variant that is
    ineffective at body temperature but functions at the lower temperatures
    experienced by cells of the extremities. This is an example of:
    A) A suppressor mutation.
    B) A wild type allele.
    C) A lethal mutation.
    D) A conditional mutation.
    D) A conditional mutation.
    (this multiple choice question has been scrambled)
  40. A splice site mutation leading to loss of an exon can affect production of
    regions of the protein encoded in downstream exons even if they are spliced
    correctly.
    a) True
    b) False
    a) True
  41. Provided the number of base pairs is a multiple of three, insertion of
    additional DNA in the coding region of a protein is unlikely to have a dramatic
    effect on protein function.
    a) True
    b) False
    b) False
  42. A woman with mild symptoms of myotonic muscular dystrophy has a daughter with a
    very severe form of the disease. Which of the following statements is most
    correct?
    a) The daughter probably has a mutation with the same number of repeats as her
    mother.
    b) The mother probably has a mutation with a larger number of repeats than the
    daughter.
    c) This must be an X-linked dominant condition.
    d) This is an example of anticipation.
    d) This is an example of anticipation.
  43. Chromosomal rearrangements are unlikely to produce an obvious phenotype, since
    they do not remove any DNA.
    a) True
    b) False
    b) False
  44. Which of these is NOT a mechanism by which a chromosome rearrangement could
    affect gene function?
    A) A gene is moved near a locus control region.
    B) None (all of these may be caused by rearrangements and affect gene function).
    C) The breakpoint is in the middle of the coding region.
    D) The breakpoint is between the coding region and the regulatory elements.
    E) The new arrangement puts a gene near new regulatory elements.
    B) None (all of these may be caused by rearrangements and affect gene function).
    (this multiple choice question has been scrambled)
  45. Which of the following would be an example of a germline mutation?
    a) Exposure to excessive UV radiation causes changes in the DNA of a skin cell,
    leading to basal cell carcinoma (skin cancer).
    b) In a very early human embryo, a mistake in mitosis causes loss of a Y chromosome
    in one daughter cell. The resulting child is a fertile male who is chromosomally
    partially male (XY) and partially female with Turner's syndrome (XO).
    c) A man with normal chromosomes has a hip X-ray without a protective shield. Ten
    months later, his wife gives birth to a child with a chromosomal deletion.
    d) An embryo missing one copy of the third chromosome is miscarried very early in
    pregnancy.
    c) A man with normal chromosomes has a hip X-ray without a protective shield. Ten months later, his wife gives birth to a child with a chromosomal deletion.
  46. Mitochondrial DNA polymerase does not have an error checking mechanism such as
    that of nuclear DNA polymerase. This would be expected to lead to a higher rate
    of which type of mutation in mitochondrial DNA?
    A) Induced mutations.
    B) Spontaneous mutations.
    C) None of these.
    D) All of these.
    E) Deletions.
    B) Spontaneous mutations.
    (this multiple choice question has been scrambled)
  47. The Luria-Delbrück fluctuation test was designed to differentiate between
    appearance of a trait due to random, spontaneous mutations vs. appearance of the
    trait due to adaptation to environmental conditions.
    a) True
    b) False
    a) True
  48. Based on the physiological adaptation theory, bacterial populations that had not
    been exposed to T1 infection:
    a) Should have a high level of resistance to T1 phage.
    b) Should be completely susceptible to infection by T1 phage.
    c) Should replicate more rapidly in the presence of T1 phage.
    d) All of the above.
    e) None of the above.
    e) None of the above.
  49. The main difference between the physiological adapation theory and the random
    mutation theory is:
    A) The effect of the mutation on the phenotype.
    B) The heritability of the trait.
    C) The chemical nature of the mutagens.
    D) The cause of the mutation.
    D) The cause of the mutation.
    (this multiple choice question has been scrambled)
  50. In a haploid organism, lethal alleles would be expected to:
    a) Have a high mutation frequency.
    b) Have a high mutation rate.
    c) Be caused only by induced mutations.
    d) All of the above.
    e) None of the above.
    e) None of the above.
  51. In which situation would you expect the mutation frequency to increase over time?
    A) The deleterious effect of the mutation is balanced with the mutation rate.
    B) A neutral allele is created at low mutation rate.
    C) A lethal allele is created at a high mutation rate.
    d) All of the above.
    e) None of the above.
    B) A neutral allele is created at low mutation rate.
    (this multiple choice question has been scrambled)
  52. Examples of environmental mutagens:
    A) Alkylating agents, which chemically modify bases.
    B) Ionizing radiation.
    C) None of these.
    D) Nucleotide base analogues.
    E) All of these.
    E) All of these.
    (this multiple choice question has been scrambled)
  53. A bacterial cell experiences a mutation as a result of exposure to nitrogen
    mustard and then divides several times to produce a total of eight cells. How
    many of the resulting cells would you expect to contain the mutation?
    A) Eight
    B) Two
    C) There is no way to tell.
    D) One
    E) Four
    E) Four.
    (this multiple choice question has been scrambled)
  54. In the Ames test:
    a) Mutagens cause lethal mutations, reducing the number of colonies.
    b) Mutagens cause mutations that disrupt the ability of the cell to produce
    histidine.
    c) Mutagens will cause an increase in the number of revertants.
    d) Only mutagens that cause transitions can be identified.
    c) Mutagens will cause an increase in the number of revertants.
  55. DNA repair systems typically work in three major steps: detection of the error,
    removal of the abnormality, and replacement of the removed DNA.
    a) True
    b) False
    a) True
  56. Individuals with Cockayne syndrome are more likely to:
    A) Have an increased rate of germ line mutation,
    B) Have an increased rate of somatic mutation.
    C) Have a decreased rate of spontaneous mutation.
    D) Have a decreased rate of induced mutation.
    B) Have an increased rate of somatic mutation.
    (this multiple choice question has been scrambled)
  57. A new chemical pesticide developed for agricultural use was subjected to the
    Ames test. The rate of mutation seen in samples treated with the pesticide and
    liver extract was approximately half that of the samples treated with the liver
    extract alone; in samples treated with only pesticide, the mutation rate was
    about the same as that of untreated samples. Which of the following statements
    could you make about this pesticide?
    a) The pesticide is modified by liver enzymes.
    b) The pesticide is unlikely to be a mutagen.
    c) The pesticide may be protective against spontaneous mutation.
    d) All of the above.
    e) None of the above.
    d) All of the above.
  58. Increasing environmental levels of mutagen is likely to lead to increasing
    frequency of deleterious alleles.
    a) True
    b) False
    a) True
  59. The increase in number of ClB daughters that could not produce sons was
    due to the fact that X rays caused mutations
    A) In the somatic cells of the fathers of the ClB daughters
    B) In the germ cells of the fathers of the ClB daughters
    C) In the germ cells of the fathers of the ClB daughters
    D) In the somatic cells of the ClB daughters
    B) In the germ cells of the fathers of the CIB daughters
    (this multiple choice question has been scrambled)
  60. The female flies that could not produce living sons
    A) Carried two recessive, lethal, X-linked mutations
    B) Carried two recessive, lethal, autosomal mutations
    C) Carried one recessive, lethal, X-linked mutation
    D) Carried one recessive, lethal, autosomal mutation
    A) Carried two recessive, lethal, X-linked mutations
    (this multiple choice question has been scrambled)
  61. According to the data, in approximately 90 cases, X rays caused
    A) A recessive, lethal, autosomal mutation
    B) A recessive, lethal, X-linked mutation
    C) A dominant, lethal, autosomal mutation
    D) A dominant, lethal, X-linked mutation
    B) A recessive, lethal, X-linked mutation
    (this multiple choice question has been scrambled)
  62. If the dosage of X-rays was decreased by 50%, we would expect
    A) Fewer ClB daughter that would survive
    B) Fewer ClB daughters that would be unable to produce sons
    C) The same results
    D) More ClB daughters that would be unable to produce sons
    B) Fewer ClB daughters that would be unable to produce sons
    (this multiple choice question has been scrambled)
  63. As described in Chapter 8, inversion heterozygotes produce strange chromosomes
    if a crossover occurs in the inverted region. The gametes produced from such a
    crossover usually produce offspring that cannot survive. (Refer back to
    pericentric and paracentric inversions). The inversion on the ClB
    chromosome thereby prevents the formation of viable offspring if a crossover
    occurs in the region that contains the lethal allele. Consider what would happen
    if this inversion were not present and a crossover occurred in the region
    between the lethal allele on the lB chromosome and the lethal allele
    caused by X rays on the homologous X chromosome. If such a crossover occurred,
    what would be the results?
    A) Half of the male offspring would survive.
    B) Half of the female offspring would die.
    C) All of the female offspring would die.
    D) All of the male offspring would die.
    A) Half of the male offspring would survive.
    (this multiple choice question has been scrambled)

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