Genetics Formative Assessment - Mutation Quiz 5
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Questions and Answers

Which type of mutation results in a change in the amino acid sequence of a protein?

  • Nonsense mutation (correct)
  • Silent mutation
  • Transversion (correct)
  • Neutral mutation
  • What is a characteristic of a gain of function mutation?

  • It leads to a complete loss of protein activity.
  • It can be caused by a translocation event. (correct)
  • It generally occurs due to indel mutations.
  • It results in a more toxic version of the protein. (correct)
  • Which of the following mutations is most likely to produce a frameshift?

  • Transition mutation
  • Missense mutation
  • Nonsense mutation
  • Microdeletion (correct)
  • What type of mutation is characterized by a substitution of a single base pair that does not change the amino acid sequence?

    <p>Silent mutation</p> Signup and view all the answers

    Which mutation would likely lead to a dominant-negative effect?

    <p>A loss of function mutation in a heterozygous condition</p> Signup and view all the answers

    Study Notes

    Genetics Formative Assessment - Quiz 5: Mutation

    • Fill in the Blank (40 points):

      • 1. Transition: Purine to purine or pyrimidine to pyrimidine substitution.
      • 2. Transversion: Purine to pyrimidine or pyrimidine to purine substitution.
      • 3. Indel: Insertion or deletion of nucleotides.
      • 4. Frameshift mutation: Insertion or deletion of nucleotides that alters the reading frame.
      • 5. Missense mutation: Change in a codon resulting in a different amino acid.
      • 6. Non-conservative substitution: Change in a codon resulting in an amino acid that is chemically different from the original amino acid.
      • 7. Neutral mutation: Mutation that does not result in a change in the protein's function.
      • 8. Silent mutation: Change in a codon that does not alter the amino acid.
      • 9. Nonsense mutation: Mutation that creates a stop codon.
      • 10. Gain of function mutation: Mutation in which a protein gains a new or enhanced function.
      • 11. Dominant-negative effect: Mutation that interferes with the function of a wild-type protein.
      • 12. Reverse genetics: Manipulating a gene to see what happens to the organism.
      • 13. Intragenic suppressor: Mutation that reverses the effect of another mutation within the same gene.
      • 14. Germline mutation: Mutation occurring in germ cells (sperm and egg cells).
      • 15. Genomic rearrangement: Major change in a chromosome, involving large portions.
      • 16. Copy number variant: Variation in the number of copies of a DNA segment.
      • 17. Microdeletion: Loss of a small segment of DNA from a chromosome.
      • 18. Translocation: Movement of a chromosomal segment to a different position.
      • 19. Aneuploidy: Abnormal number of chromosomes in a cell.
      • 20. Trisomy: Having three copies of a particular chromosome.
    • Matching (20 points):

      • 1. LOF: Loss of Function
      • 2. LOF: Loss of Function
      • 3. GOF: Gain of Function
      • 4. GOF: Gain of Function
      • 5. LOF: Loss of Function
      • 6. GOF: Gain of Function
      • 7. LOF: Loss of Function
      • 8. LOF: Loss of Function
      • 9. GOF: Gain of Function
      • 10. GOF: Gain of Function

    Application (20 points):

    • (a): mRNA sequence 5′ AUG-GGA-GCU-CGU-UGU-AUU-UGA 3' codes for protein Met-Gly-Ala-Arg-Cys-Ile-*.
    • (b) Mutation 1: A transversion that causes a missense mutation, changing the amino acid from Alanine (Ala) to Leucine (Leu)
    • (c) Mutation 2: A transversion leading to a nonsense mutation, creating a premature stop codon, shortening the protein to Met-Gly-Ala-Arg-*.
    • (d) Mutation 3: An insertion changing the reading frame leading to an in-frame mutation and an amino acid change. The insertion is in the sequence, changing the amino acid to Serine causing the change in amino acid.

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    Description

    Test your knowledge on various types of genetic mutations with this quiz. You will explore transitions, transversions, indels, and more while filling in the blanks. Perfect for students studying genetics and molecular biology.

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