1.6 Criteria Flashcards
Define a mutation:
A change in DNA which may, or may not result in no protein, or an altered protein being produced
Define a single gene mutation:
The alteration of a DNA nucleotide sequence
What are 3 examples of single gene mutations?
Substitution, Insertion and deletion
What are 3 examples of single gene nucleotide substitution mutations?
Missense, Nonsense and splice site
What is a missense mutation?
Where one amino acid is changed for another and the protein produced may be non-functional or there may be no effect
What is a nonsense mutation?
Where a stop codon is produced which results in a shortened protein
What is a splice site mutation?
Where some introns are not cut out and/or some exons not being included in the mature transcript
Nucelotide insertions or deletions result in what?
Frameshift mutations
What do frameshift mutations cause?
All codons and therefore all amino acids after the mutation site to be altered
Do frameshift mutations have a major or a minor effect on protein structure?
Major
What are 4 chromosome structure mutations?
Duplication, deletion, translocation and inversion
What is a duplication mutation?
Where a section of a chromosome is added from its homologous partner
What is a deletion mutation?
Where a section of chromosome is removed
What is a translocation mutation?
Where a section of a chromosome is added to a chromosome that is not a homologous partner
What is an inversion mutation?
Where a section of a chromosome is reversed
