Mutations Flashcards
definition of Mutation:
random changes to DNA sequences
what is a single gene mutation?
a change in a DNA nucleotide sequence in one gene.
what is meant by a missense mutation?
one amino acid being changed for another. may result in a non-functional protein or have little effect on the protein.
what is meant by a nonsense mutation?
premature stop codon being produced which results in a shorter protein.
what is meant by a splice site mutation?
some introns being retained and/or some exons not being included in the mature transcript.
examples of single gene mutations:
insertions, deletion, substitution
examples of nucleotide substitutions:
missense, non-sense, splice-site.
examples of nucleotide substitutions in insertion and deletion:
frame-shift mutation.
what is meant by a frame-shift?
after the mutation it causes all the codons and amino acids to be changed.
examples of chromosomes mutations:
duplication, deletion, inversion, translocation.
what happens in: duplication deletion inversion translocation
- where a section of chromosome is added from its homologous partner
- where a section of chromosomes is removed
- where a section of chromosome is reversed
- where a section of chromosome is added to a chromosome but not its homologous partner
how are mutations beneficial for evolution?
duplication allows potential beneficial mutations to occur in duplicated a gene, while the original gene can still be expressed to produce protein.