DNA mutations

Question 1

substitution leads to SAME AA

Answer 1

Silent mutation

Question 2

substitution leads to DIFFERENT AA

Answer 2

Missense mutation

Question 3

substitution leads to STOP CODON

Answer 3

Nonsense mutation

Question 4

deletion or insertion of a number of nucleotides NOT DIVISIBLE by 3 - misreading of all nucleotides downstream

Answer 4

Frameshift mutation

Duchenne muscular dystrophy
Tay Sachs disease

Question 5

retention of INTRON – impaired or altered protein function

Answer 5

Splice site mutation

B-thalassemia
Gaucher disease
Marfan syndrome