SB3e - Genetic Variants and phenotypes

Question 1

What are the three outcomes from a mutation?

Answer 1

1. Remains the same meaning the mutation had no affect
2. Decrease , This is known as a harmful mutation.
   3, Becomes more efficient , This is known as a
   beneficial mutation

Question 2

Name the disease that is caused by a mutation in the non coding region.

Answer 2

beta-thalassaemia

Question 3

What are the three TYPES of mutation?

Answer 3

Substitution
insertion
deletion

Question 4

What are some symptoms of beta-thalassaemia?

Answer 4

Tiredness, weakness and shortness of breath