Splice Site Mutations Quiz
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Questions and Answers

What percentage of genetic diseases are caused by mutations affecting RNA splicing?

  • 5%
  • 10%
  • 15% (correct)
  • 20%

Which type of mutation in the haemoglobin gene causes β0 thalassemia?

  • Point mutation in the coding sequence
  • Heterozygous mutation in the 5' intronic splice junction sequence
  • Homozygous mutation in the 5' intronic splice junction sequence
  • Homozygous mutation in the 3' intronic splice junction sequence (correct)

What is the result of a point mutation that changes the polyadenylation signal site of the hemoglobin gene from AAUAAA to AACAAA?

  • Hemophilia
  • Sickle cell anemia
  • β0 thalassemia
  • β+ thalassemia (correct)

What is the consequence of homozygous mutations in the 5' intronic splice junction sequences of the haemoglobin gene?

<p>β0 thalassemia (A)</p> Signup and view all the answers

What is the consequence of homozygous mutations in the 3' intronic splice junction sequences of the haemoglobin gene?

<p>β0 thalassemia (D)</p> Signup and view all the answers

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