Mutations Flashcards
what is a mutation?
mutations are changes in the DNA that can result in no protein or an altered protein being made.
what are the 2 categories of mutations?
single gene mutations and chromosomal structure mutations.
what is a single gene mutation?
it involves the alteration of DNA nucleotide sequence as a result of the substitution, insertion or deletion of nucleotide’s.
what are the 3 categories of substitution mutations.
missence, nonsense and splice site mutations.
what is a missence mutation?
Missense mutations result in one amino acid being changed for another. This may result in a non-functional protein or have little effect on the protein.
what is a nonsence mutation?
Nonsense mutations result in a premature stop codon being produced which results in a shorter protein.
what is a splice cite mutation?
Splice-site mutations are when some introns being retained and/or some exons not being included in the mature transcript.
what is something both insertions and deletions are?
frame shift mutations.
what is meant by frame shift mutations?
this means mutations that change all codons and therefore amino acids after the point of mutation. this has a major effect on the protein being produced and often makes it non-functional.
what is the acronym SID TIDD?
substitution, insertion, deletion (single gene mutations) and translocation, inversion, deletion and duplication (chromosomal structural mutations)
what is a duplication mutation?
Duplication is where a section of a chromosome is added from its homologous partner
what is a deletion mutation (chromosomal)
where a section of a chromosome is removed. leading to a shorter chromosome lacking lots of genes.
what is an inversion mutation?
where a section of a chromosome is reversed
what is a translocation mutation?
where a section of a chromosome is added to another but not from its homologous partner.
because chromosomal mutations are such a substantial change this makes them more…
lethal
