1.4 Flashcards
what is a mutation
changes in dna that can result in no protein or an altered protein being synthesised
what are nucleotide substitutions
substitution that result in a change that only effects on codon
what is a missense mutation
this results in one amino acid being changed for another resulting in a non functional protein or it will have little effect
what is a nonsense mutation
this results in a premature stop codon being produced which results in a shorter protein
what is a splice site mutation
affects the boundaries between exons and introns . resulting in some introns being retained and / or some exons not being included it mature transcript
what are insertion and deletion mutations
mutations which results in a frame shift , causing all the codons and all the amino acids after the mutation . having a major effect on the structure
what are chromosome structure mutations
alterations that affect the whole chromosome and whole genes rather than just individual nucleotides
what is a duplication mutation
where a section of a chromosome is added from its homologous partner
what is a chromosome deletion mutation
where a section of chromosome is removed
what is an inversion mutation
where a section if chromosome is reversed
what is a translocation mutation
where a section of a chromosome is added to a chromosome that is not its homologous partner
