Point Mutation: Transition, Transversion

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Questions and Answers

Which of the following best describes a transition mutation at the DNA level?

  • A change from a purine to a pyrimidine base.
  • An insertion or deletion of a single nucleotide base.
  • A change between two purines or between two pyrimidines. (correct)
  • A change from a pyrimidine to a purine base.

A mutation occurs where a codon for serine (UCU) is changed to a codon for proline (CCA). What type of point mutation is this?

  • Nonsense mutation
  • Silent mutation
  • Missense mutation (correct)
  • Transition mutation

Which type of mutation results in a premature stop codon within the mRNA sequence?

  • Silent mutation
  • Transversion mutation
  • Nonsense mutation (correct)
  • Missense mutation

What is the most likely effect of a frameshift mutation resulting from the insertion of a single nucleotide base in the middle of a coding sequence?

<p>The amino acid sequence after the insertion will be altered. (C)</p>
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A silent mutation is least likely to alter which of the following?

<p>The amino acid sequence of the protein. (B)</p>
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Which of the following is a characteristic of a transversion mutation?

<p>It involves the substitution of a purine for a pyrimidine. (C)</p>
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In the context of protein function, what characterizes a 'partially acceptable' missense mutation?

<p>The resulting protein’s function is somewhat affected. (B)</p>
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How does the degeneracy of the genetic code influence the occurrence of silent mutations?

<p>It allows for nucleotide changes that do not alter the amino acid sequence. (C)</p>
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What is the primary consequence of deleting three consecutive nucleotides within the coding region of a gene?

<p>It results in the deletion of one amino acid from the protein. (D)</p>
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Which scenario is most likely to result from the insertion of a single nucleotide near the beginning of the coding sequence of a gene?

<p>A protein with a significantly altered amino acid sequence. (C)</p>
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Which type of mutation is least likely to have a significant effect on the phenotype of an organism?

<p>Silent mutation (C)</p>
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If a mutation causes a change in the codon from GAU to GAC, what is the likely effect on the protein, considering both codons code for aspartic acid?

<p>There will be no change in the protein. (C)</p>
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A scientist discovers that a point mutation in a gene results in a protein that is twice as long as the normal protein. What type of mutation is the most likely cause?

<p>A frameshift mutation within the termination sequence. (B)</p>
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Which of the following mutations would likely have the least severe impact on protein function?

<p>A missense mutation in a non-critical region of the protein. (D)</p>
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What would be the effect of a mutation that disrupts the normal termination codons?

<p>Elongation of the protein beyond its normal length. (C)</p>
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A mutation in the coding sequence of a gene changes a single nucleotide, but the resulting protein sequence is identical to the wild-type protein. This is an example of what type of mutation?

<p>Silent mutation (A)</p>
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A researcher is studying a protein and discovers that a mutation has caused one of the original alanine amino acids to be replaced by a valine. What is the most likely type of mutation that caused this change?

<p>Missense (B)</p>
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A scientist is investigating a bacterial strain with a mutation that arose due to the insertion of one pyrimidine base in the DNA. What kind of mutation is this?

<p>Frameshift (C)</p>
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Which of the following statements best characterizes the effects of insertion?

<p>It is the same effects as deletion. (B)</p>
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A scientist discovers that a mutation has occurred during the deletion of 3 consecutive nucleotides. What is its effect on amino acids?

<p>It results in a protein with a missed amino acid. (A)</p>
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Flashcards

Mutation Definition

A change in the nucleotide sequence of DNA.

Point Mutation

A mutation affecting a single base in the DNA sequence.

Transition Mutation

A type of point mutation where a pyrimidine changes to another pyrimidine, or a purine changes to another purine.

Transversion Mutation

Mutation where a purine changes to a pyrimidine, or vice versa.

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Silent Mutation

A mutation that does not alter the amino acid sequence due to genetic code redundancy.

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Missense Mutation

A mutation that results in a different amino acid being coded for.

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Nonsense Mutation

A mutation that results in a stop codon, leading to premature termination of translation.

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Frameshift Mutation

Mutation due to insertion or deletion of nucleotide(s) that shifts the reading frame of the gene.

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Deletion (mutation type)

A type of frameshift mutation where a nucleotide is removed from the DNA sequence.

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Insertion (mutation type)

A type of frameshift mutation where a nucleotide is added to the DNA sequence.

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Study Notes

  • Mutation is a change in the nucleotide sequence of DNA
  • There are two types of mutations: point and frame shift

Point Mutation

  • This involves single base changes, where one base is substituted for another
  • There are two types of point mutations: transition and transversion

Transition Mutation

  • This occurs when a pyrimidine changes to another pyrimidine, or a purine changes to another purine

Transversion Mutation

  • This occurs when a purine changes to either of the two pyrimidines, or when a pyrimidine changes to either of the two purines

Effects of Point Mutation

  • Silent, missense and nonsense mutations can occur

Silent Mutation

  • The codon with the changed base still codes for the same amino acid
  • This is due to the degeneracy of the genetic code
  • The changed base is the third base of the codon
  • Hemoglobin Bristol has aspartic acid at position 67, coded by codons GAU and GAC

Missense Mutation

  • The codon with the changed base codes for a different amino acid
  • The effect of the mistaken amino acid protein function may be acceptable, partially acceptable, or unacceptable
  • Acceptable occurs when the resulting protein is not distinguishable from the normal one, like Hb Hikari
  • Partially acceptable occurs when the protein function is partially affected, like Hb S
  • Unacceptable occurs when the protein is non-functioning, like Hb M

Nonsense Mutation

  • This occurs when the codon with the changed base becomes a termination codon
  • This may lead to premature termination of translation and a short protein

Frameshift Mutation

  • This is produced by deletion or insertion of nucleotides from the coding strand of a gene

Deletion

  • If there is deletion of a single nucleotide, this may lead to garbled translation of the mRNA distal to the single nucleotide deletion
  • Nonsense codons may result from deletion, leading to premature termination of translation
  • If there is deletion of 3 nucleotides or a multiple of 3 from the coding region, this results in a protein with a missed amino acid or acids
  • If there is deletion of one or two nucleotides within the termination sequence, the reading of the normal termination codons is disturbed
  • This may lead to reading through a termination signal until another nonsense codon is reached

Insertion

  • Give the same effects of deletions

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