Mutations Flashcards
A mutation is
a change in DNA (which can result in no protein or an altered protein being made)
Substitution, Insertion and Deletion are known as
Single Gene Mutations
The three 3 types of substitution mutations are
Missense, Nonsense and Splice Site
What is a frameshift mutation?
A mutation that alters all the codons and amino acids after the mutation (eg Insertion/Deletion)
What type of substitution results in a premature stop codon being produced?
A Nonsense mutation
What type of substitution results in some introns being included in the mature transcript?
A splice-site mutation
The 4 chromosome structure mutations are
Duplication, Deletion, Inversion and Translocation
Why are Chromosome mutations often lethal?
They lead to substantial changes
Inversion occurs when
a section of chromosome is reversed
Translocation occurs when
a section of chromosome is added to another chromosome (that is not it’s homologous partner)
