Young: Medical Genetics - Extended Matching Questions

Table of Contents

1. Chapter 1
   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: Mutations

Options:

1. Expansion
2. Frameshift
3. In frame
4. Missense
5. Nonsense
6. Silent
7. Transition
8. Transversion

Select the most appropriate term to describe the following mutations from the available options.

1

Scenario 1   Creation of a new stop codon Choose... Expansion Frameshift In frame Missense Nonsense Silent Transition Transversion Nonsense mutations are also known as premature termination mutations, as the creation of a new stop codon leads to a truncated 'nonsense' message. See Page 9.Incorrect. See Page 9.Your answer has been saved.

2

Scenario 2   Substitution of one amino acid for another Choose... Expansion Frameshift In frame Missense Nonsense Silent Transition Transversion Missense mutations can be conservative or non-conservative depending on the effect on protein function. Page 9.Incorrect. See Page 9.Your answer has been saved.

3	Scenario 3   An A to T point mutation Choose... Expansion Frameshift In frame Missense Nonsense Silent Transition Transversion A transversion is a substitution of a purine base (A or G) for a pyrimidine base (C or T) or vice versa. See Page 9.Incorrect. See Page 11.Your answer has been saved.

4

Scenario 4   A 5 base pair deletion in an exon Choose... Expansion Frameshift In frame Missense Nonsense Silent Transition Transversion Any deletion or insertion involving a number of nucleotides not divisible by 3 will disturb the reading frame. See Page 11.Incorrect. See Page 11.Your answer has been saved.

5

Scenario 5   An increase in the size of a triplet repeat Choose... Expansion Frameshift In frame Missense Nonsense Silent Transition Transversion This mutational mechanism accounts for a small but important number of disorders including Huntington's disease and the Fragile X syndrome. See Page 12.Incorrect. See Page 12.Your answer has been saved.