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Haemoglobin Synthesis and Inherited Diseases

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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%

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?

Three Signup and view all the answers

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

G‐T and A‐G Signup and view all the answers

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

To control genetic activity by opening up the chromatin to allow transcription factors to bind Signup and view all the answers

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

Catalyzing the polyadenylation of mRNA Signup and view all the answers

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

Thalassaemia Signup and view all the answers

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

Replacement of γ chains with β chains Signup and view all the answers

What is the role of BCL11A in globin gene expression?

A major transcriptional regulator of the switch from fetal to adult haemoglobin Signup and view all the answers