1.6 - Mutations Flashcards
what is a mutation?
changes in the dna that result in no protein or an altered protein being synthesised
what are the types of single gene mutations
substitution, insertion, deletion of nucleotides
what are the resulting types of mutation from a nucleotide substitution
missense, nonsense, splice-site
what does a missense substitution do to the sequence of amino acids?
1 amino acid being changed for another
what is the effect of a missense substitution on the protein?
a non-functional protein or little effect on protein
what is the effect of a nonsense substitution?
a premature stop codon is produced which results in a shorter protein
what is the effect of a splice-site substitution?
some introns being retained/ some exons not in the mature transcript
what do nucleotide insertion/deletions result in
frameshift mutations
what is a frameshift mutation?
all codons and amino acids after the mutation are changed
what effect does a frameshift mutation have on the structure of the protein?
a major effect
what are the types of chromosome structure mutations?
duplication deletion inversion translocation
chromosome duplication is…
where a section of a chromosome is added from its homologous partner
chromosome deletion is…
where a section of a chromosome is removed
chromosome inversion is…
where a section of chromosome is reversed
chromosome translocation is…
where a section of chromosome is added to a chromosome not its homologous partner
