Genetic Variants and Mutations: Structural Classification

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to Lesson

Podcast

Play an AI-generated podcast conversation about this lesson

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 (D)</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 (A)</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. (C)</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 (D)</p> Signup and view all the answers

What is the characteristic of an in-frame mutation?

<p>It does not alter the reading frame (D)</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 (A)</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 (B)</p> Signup and view all the answers

Flashcards are hidden until you start studying

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).

Studying That Suits You

Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

Quiz Team

More Like This

DNA Variants and Genetic Disorders Quiz
10 questions
Genetic Variants in Autophagy and Aging
10 questions
Genetic Variants Overview
5 questions

Genetic Variants Overview

FineLookingAquamarine248 avatar
FineLookingAquamarine248
Use Quizgecko on...
Browser
Browser