GenPath RC Chapter 5

Question 1

What is a point mutation?

Answer 1

Change in which a single base is substituted with a different base

e.g. sickle mutation affecting the beta-globin chain of hemoglobin (CTC or GAT in mRNA) is changed to CAC (or GUG in mRNA) = sickle cell anemia

Question 2

Give an example of a point mutation

Answer 2

Sickle cell anemia

Beta0-thalassemia

Question 3

What is a frameshift mutation?

Answer 3

When the number of base pairs involved is three or a multiple of three the reading frame will remain intact, but when the number is not a multiple of three -> reading frame of the DNA strand is shifted

this typically results in a premature stop codon