Mutations Flashcards
What is a mutation?
A change in the DNA
What is the possible result of a mutation?
No protein being made or an altered protein being synthesised
What do we call mutations that involve the alteration of a DNA nucleotide sequence?
SIngle gene mutation
State the 3 types of single gene mutation.
deletion, insertion, substitution
Describe a deletion mutation.
One or more nucleotides are removed.
Describe an insertion mutation.
One or more nucleotides are added.
Describe a substitution mutation.
Where on nucleotide is replaced with another.
Which of the single gene mutations are described as frameshift?
deletion and insertion
What does a frameshift mutation result in?
Potentially every amino acid after the mutation is changed.
What do we call a mutation where one amino acid is replaced with another?
missense
What is the end result of a missense mutation?
non-functional protein or little effect on the protein
What is a nonsense mutation?
premature stop codon therefore shorter protein
Name the sections that are removed during RNA splicing?
introns - IN the bIN
Name the sections that are EXpressed after RNA splicing.
EXons
What is a splice site mutation?
When some introns are retained and/or some exons are removed
