Understanding Hemoglobinopathies Mutations
12 Questions
1 Views

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

What type of mutation may result in the acquisition of a novel property by the mutant protein?

  • Deletion mutation
  • Insertion mutation
  • Loss-of-function mutation
  • Gain-of-function mutation (correct)

    • Which condition is caused by a loss of a chromosome?

  • Turner syndrome (correct)
  • Fragile X syndrome
  • α-thalassemia
  • Trisomy 21

    • In Fragile X syndrome, decreased mRNA is caused by the silencing of which gene due to methylation?

  • βAPP gene
  • α-globin gene
  • PMP22 gene
  • FMR1 gene (correct)

    • Which mutation locks hemoglobin in its high oxygen affinity state?

    <p>Missense mutation (bAsp99Asn)</p> Signup and view all the answers

    What is generally the cause of Trisomy 21?

    <p>Duplication of part or all of a chromosome</p> Signup and view all the answers

    Which condition generally results from the duplication of peripheral myelin protein 22 (PMP22)?

    <p>Charcot-Marie-Tooth disease type 1A</p> Signup and view all the answers

    What is the novel property mutation exemplified by sickle cell disease?

    <p>A mutation that alters a protein's normal function</p> Signup and view all the answers

    Which condition arises from mutations associated with heterochronic gene expression?

    <p>Cancer</p> Signup and view all the answers

    What is the primary reason for the benign nature of hereditary persistence of fetal hemoglobin?

    <p>Greater oxygen affinity of fetal hemoglobin</p> Signup and view all the answers

    Which is an example of allelic heterogeneity?

    <p>Thalassemia resulting from mutations in the β-globin gene</p> Signup and view all the answers

    What distinguishes locus heterogeneity from allelic heterogeneity?

    <p>Manifests as different clinical conditions</p> Signup and view all the answers

    How does sickle hemoglobin differ from normal hemoglobin?

    <p>Sickle hemoglobin has higher oxygen affinity</p> Signup and view all the answers

    More Like This

    Use Quizgecko on...
    Browser
    Open
    Browser
    Browser