KA4 Mutations Flashcards
What is an example of a insertion mutation
Tay sachs disease
What is an example of a substitution mutation
PKU
What is an example of a deletion
Cystic fibrosis
What is deletion
When one nucleotide is removed from the DNA sequence
What is insertion
When one nucleotide is added to the DNA sequence
What happens in nonsense
A stop codon could be made
What happens in missense
One amino acid is altered
Could have no impact or could result in non functioning protein
What is splice site
When substitution changes the boundary between introns and exons
What is substitution
When 1 nucleotide is removed and replaced by another single nucleotide
What are features of a single gene mutation
Occur only in one gene
They always alter the order of bases
They can have minor or major impacts
What are the 2 types of mutation
Single gene mutations
Chromosomal structure mutations
What does the order of amino acids determine
The protein being made
What does the order of DNA bases determine
Order of amino acids
What can cause mutations
UV light X rays Cigarettes Viruses Bacteria
What is a mutation
A random change in the genetic material
Changes in DNA can result in no protein or altered protein being synthesised
