Higher 4-7 Topic 1 Flashcards
What is a mutation?
A random change in dna that happens that can result in altered gene or no protein synthesised
Single gene mutation?
Involves the change of dna nucleotide
- Substitution
- insertion
- deletion
Nucleotides?
Bases
Single nucleotide substitution
Changing one dna nucleotide for another
There’s 3 types
- missense
- nonsense
- splice site mutation
Substitution
Missense?
Results in one amino acid being changed for another
Doesn’t have much change
(The base changes)
Substitution
Nonsense?
When a amino acid gets changed for a premature stop codon which
can shorten protein
Substitution
Splice site
When some introns stay/ get removed or exons get removed/kept.
Frame shift mutation?
- deletion
- insertion
Change the main structure of transcript
Deletion?
frame shift
Removal of a nucleotide
(Of a base making it shorter)
Insertion?
frame shift
Addition of nucleotide
(Making the transcript longer)
Chromosome structure mutations?
Chromosome mutations not genes
- Duplication
- Deletion
- Inversion
- Translocation
What is duplication?
chromosome
Section of chromosome is added from its homologous partner
Deletion?
chromosome
Section of chromosome is removed
Inversion?
chromosome
Section of chromosome is reversed
Translocation
chromosome
Part of dna is added from chromosome that’s NOT its homologous partner
What is a genome?
It’s entire hereditary information encoded in dna
Hereditary = the transfer / passing of genes to one generation to another