Key Area 4 Flashcards
What is a mutation?
A change in the DNA
What can a mutation result in?
No protein being synthesized
An altered protein being synthesized
What are the 2 main types of mutation?
Single gene
Chromosomal
What is a single gene mutation?
An alteration of a DNA sequence
What 3 things can result in a single gene mutation?
Substitution of a nucleotide
Insertion of a nucleotide
Deletion of a nucleotide
What type of mutation can a substitution result in?
Missense
Nonsense
Splice site
What is a missense mutation?
One amino acid is changed for another
may result in a non functional protein or have little effect on the protein
What is a nonsense mutation?
results in a premature stop codon being produced
a shorter protein is produced
What is a splice site mutation?
Some introns are retained or exons are not included in the mature transcript
What type of mutation can an insertion or deletion of a nucleotide result in?
Frame shift mutation
What is a frame shift mutation?
All codons and amino acids after the mutation are changed. This has a major impact on the structure of the protein being produced
What are the 4 types of chromosome structure mutations?
- Duplication
- Deletion
- Inversion
- Translocation
What is a duplication mutation?
When a section of the chromosome is added from its homologous partner
What is a deletion mutation?
A section of chromosome is removed
What is an inversion mutation?
A section of the chromosome is reversed
