Genetic Variants and Mutations: Structural Classification
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Questions and Answers

Which type of mutation involves the replacement of one nucleotide with another?

  • Nonsense mutation
  • Duplication mutation
  • Deletion mutation
  • Missense mutation (correct)
  • What is the term for a sequence change where one or more nucleotides are lost compared to a reference sequence?

  • Deletion mutation (correct)
  • Duplication mutation
  • Substitution mutation
  • Synonymous mutation
  • Which type of mutation introduces a premature stop codon?

  • Nonsense mutation (correct)
  • Point mutation
  • Synonymous mutation
  • Missense mutation
  • What is the term for mutations that affect coding sequences or splice sites?

    <p>Point mutations</p> Signup and view all the answers

    Which type of mutation results in the modification of a codon without changing the coded amino acid?

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

    What is the definition of a duplication mutation?

    <p>A sequence change where a copy of one or more nucleotides is inserted directly 3' of the original copy of that sequence.</p> Signup and view all the answers

    Which type of mutation involves the insertion of one or more nucleotides that are not a copy of a sequence immediately 5'?

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

    What is the characteristic of an in-frame mutation?

    <p>It does not alter the reading frame</p> Signup and view all the answers

    What is the effect of a null or amorphic mutation on gene activity?

    <p>No product - mRNA or protein; no function</p> Signup and view all the answers

    In a recessive mutation, when are the mutant phenotype observed?

    <p>In an individual carrying two mutant alleles</p> Signup and view all the answers

    Study Notes

    Types of Mutations

    • Point mutation: involves the replacement of one nucleotide with another.
    • Deletion: a sequence change where one or more nucleotides are lost compared to a reference sequence.
    • Nonsense mutation: introduces a premature stop codon.
    • Missense mutation: affects coding sequences or splice sites.

    Mutation Effects

    • Silent mutation: results in the modification of a codon without changing the coded amino acid.
    • Duplication mutation: a type of mutation that results in the duplication of a sequence.
    • Insertion mutation: involves the insertion of one or more nucleotides that are not a copy of a sequence immediately 5'.
    • In-frame mutation: a type of mutation that maintains the original reading frame of the sequence.

    Mutation Consequences

    • Null or amorphic mutation: completely eliminates gene activity.
    • Recessive mutation: the mutant phenotype is observed only when an individual is homozygous for the mutation (has two copies of the mutated gene).

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    Description

    Test your knowledge of gene variants, mutations, and their structural classifications with this quiz. Explore the different types of DNA sequence alterations, including deletions, duplications, and chromosomal rearrangements.

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