Haemoglobin Synthesis and Inherited Diseases

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Questions and Answers

What is the approximate percentage of the world's population affected by mutations in the globin genes?

  • 10%
  • 5%
  • 15%
  • 7% (correct)

Which of the following types of haemoglobin is NOT present in adult blood?

  • Gower 1 (correct)
  • Fetal Hb (Hb F)
  • Haemoglobin A2 (Hb A2)
  • Haemoglobin A

What is the difference between the two types of γ chain?

  • A glycine or alanine amino acid at position 136 (correct)
  • A glycine or alanine amino acid at position 138
  • A glycine or alanine amino acid at position 135
  • A glycine or alanine amino acid at position 137

How many exons are present in each of the globin genes?

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

What is the sequence of nucleotides at the beginning and end of the introns in the globin genes?

<p>G‐T and A‐G (B)</p> Signup and view all the answers

What is the primary function of the locus control region in globin gene expression?

<p>To control genetic activity by opening up the chromatin to allow transcription factors to bind (B)</p> Signup and view all the answers

Which of the following is NOT a function of conserved sequences in globin gene expression?

<p>Catalyzing the polyadenylation of mRNA (A)</p> Signup and view all the answers

What is the result of mutations or deletions of conserved sequences in globin gene expression?

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

What is the switch from fetal to adult haemoglobin characterized by?

<p>Replacement of γ chains with β chains (A)</p> Signup and view all the answers

What is the role of BCL11A in globin gene expression?

<p>A major transcriptional regulator of the switch from fetal to adult haemoglobin (D)</p> Signup and view all the answers

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