Young: Medical Genetics - Extended Matching Questions

Table of Contents

1. Chapter 1
   1. Question 1
   2. Question 2
2. Chapter 2
   1. Question 1
   2. Question 2
3. Chapter 3
   1. Question 1
   2. Question 2
4. Chapter 4
   1. Question 1
   2. Question 2
5. Chapter 5
   1. Question 1
   2. Question 2
6. Chapter 6
   1. Question 1
   2. Question 2
7. Chapter 7
   1. Question 1
   2. Question 2
8. Chapter 8
   1. Question 1
   2. Question 2
9. Chapter 9
   1. Question 1
   2. Question 2
10. Chapter 10
    1. Question 1
    2. Question 2
11. Chapter 11
    1. Question 1
    2. Question 2
12. Chapter 12
    1. Question 1
    2. Question 2
13. Chapter 13
    1. Question 1
    2. Question 2
14. Chapter 14
    1. Question 1
    2. Question 2

Question 1

Instructions: Each group of extended matching questions consists of lettered options followed by a list of numbered problems/questions. For each numbered problem/question select the one lettered option that is most closely answers the question. You can use the lettered options once, more than once, or not at all.

Theme: Haemoglobin gene mutations

Options:

1. Single nucleotide substitution
2. Whole gene deletion(s) on chromosome 11
3. Whole gene deletion(s) on chromosome 16
4. Chain termination mutation
5. Frameshift insertion
6. Fusion gene
7. Inversion

Match the following abnormal haemoglobin or hereditary anaemia with the correct underlying mutation from the available options.

1

Scenario 1   Alpha-thalassaemia Choose... Single nucleotide substitution Whole gene deletion(s) on chromosome 11 Whole gene deletion(s) on chromosome 16 Chain termination mutation Frameshift insertion Fusion gene Inversion Alpha-thalassaemia is usually caused by deletion of one or both of the contiguous α-globin genes on chromosome 16. See Page 159.Incorrect. See Page 159.Your answer has been saved.

2

Scenario 2   Hb Constant Spring Choose... Single nucleotide substitution Whole gene deletion(s) on chromosome 11 Whole gene deletion(s) on chromosome 16 Chain termination mutation Frameshift insertion Fusion gene Inversion Hb Constant Spring is caused by a point mutation in the α-globin gene stop codon, which results in the production of an elongated α-globin chain. See Page 156.Incorrect. See Page 156.Your answer has been saved.

3

Scenario 3   Sickle cell anaemia Choose... Single nucleotide substitution Whole gene deletion(s) on chromosome 11 Whole gene deletion(s) on chromosome 16 Chain termination mutation Frameshift insertion Fusion gene Inversion The classic sickle cell mutation consists of an A to T point mutation (transversion) in the sixth codon of the β-globin gene. See Page 157.Incorrect. See Page 157.Your answer has been saved.

4

Scenario 4   Hb Lepore Choose... Single nucleotide substitution Whole gene deletion(s) on chromosome 11 Whole gene deletion(s) on chromosome 16 Chain termination mutation Frameshift insertion Fusion gene Inversion Hb Lepore is the product of a fusion δβ-globin gene formed by mispairing and unequal crossing-over between the homologous δ and β genes. See Page 155.Incorrect. See Page 155.Your answer has been saved.

5

Scenario 5   DeltaBeta-thalassaemia Choose... Single nucleotide substitution Whole gene deletion(s) on chromosome 11 Whole gene deletion(s) on chromosome 16 Chain termination mutation Frameshift insertion Fusion gene Inversion δβ-thalassaemia is caused by deletion of the contiguous δ and β genes on chromosome 11. See Page 162.Incorrect. See Page 162.Your answer has been saved.