DNA mutations Flashcards
1
Q
substitution leads to SAME AA
A
Silent mutation
2
Q
substitution leads to DIFFERENT AA
A
Missense mutation
3
Q
substitution leads to STOP CODON
A
Nonsense mutation
4
Q
deletion or insertion of a number of nucleotides NOT DIVISIBLE by 3 - misreading of all nucleotides downstream
A
Frameshift mutation
Duchenne muscular dystrophy
Tay Sachs disease
5
Q
retention of INTRON – impaired or altered protein function
A
Splice site mutation
B-thalassemia
Gaucher disease
Marfan syndrome
