Understanding Hemoglobinopathies Mutations
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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) (C)</p> Signup and view all the answers

What is generally the cause of Trisomy 21?

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

Which condition arises from mutations associated with heterochronic gene expression?

<p>Cancer (C)</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 (B)</p> Signup and view all the answers

Which is an example of allelic heterogeneity?

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

What distinguishes locus heterogeneity from allelic heterogeneity?

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

How does sickle hemoglobin differ from normal hemoglobin?

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

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