Unit 4 - Mutations Flashcards
what are mutations
Mutations are changes to DNA which can result in no protein or an altered protein to being synthesised
what is involved in a single gene mutation
(DIGS) - (Deletion, insertion, substitution). single gene mutations involves the alteration of a DNA nucleotide sequence as a result of DIGS.
what is included in nucleotide substitutions
missense, nonsense and splice site mutations are included in substitution of a nucleotide.
what is a missense mutation
a missense mutation result in one amino acid being changed for another resulting in a non functioning protein or have very little effect on the protein
what is a nonsense mutation
a nonsense mutations result in a premature stop codon being produced which results in a shorter protein being produced
what is a splice site mutation
a splice site mutation results in some introns being retained or some exons not being included in the mature transcript
what does nucleotide insertion or deletions result in
nucleotide insertion or deletions result in a frame shift mutation
what is a frame shift mutation
a frame shift mutation causes all of the codons and amino acids after the mutation to be changed. this results in a major change of the protein produced.
what is involved in a chromosome mutation
(DICTD) - (Deletion, inversion, translocation, duplication of a chromosome). chromosome mutations include the deletion, inversion, translocation, and duplication of a chromosome.
what is a duplication mutation
a duplication mutation is the result of a section of chromosome being added from its homologous partner.
what is an inversion mutation
an inversion mutation is where a section of chromsome is reversed
what is a deletion mutation
a deletion mutation is where a section of a chromosome is removed
what is a translocation mutation
a translocation mutation is where a section of a chromosome is added from another chromosome which is not from its homologous partner.
what is the difference between a single gene mutation and a chromosome mutation.
single gene mutations will effect a single nucleotide often affecting protein production whereas chromsome mutations will involve the breakage of one or more chromosomes which is often lethal or fatal
what is an example of a condition that is caused by a chromosome mutation
phenylketonuria
