Mutation Flashcards
What are Mutations?
Mutations are changes in the DNA that
can result in no protein or an altered protein
being synthesised.
What are the three types of gene mutation?
Substitution, Insertion, Deletion
What are the three sub-types of a substitution mutation
Missense, Nonsense, Splice site
What is a Missense 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 nonsense mutation?
Nonsense mutations result in a premature stop codon being produced which results in a shorter protein.
What are splice site mutations?
Splice site mutations result in some introns being retained and/or some exons not being included in the mature transcript.
Nucleotide insertions and deletions result in what?
Frame shift mutations
What are frame shift mutations?
Frame shift mutations cause all of the codons and all of the amino acids after the mutation to be changed. This has a major effect on the structure of the protein produced.
What are the 4 types of Chromosome structure mutations?
Translocation, Inversion, Duplication and Deletion
What is a Duplication chromosome mutation?
Duplication is where a section of a chromosome is added from its homologous partner.
What is a deletion chromosome mutation?
Deletion is where a section of a chromosome is removed.
What is an inversion chromosome mutation?
Inversion is where a section of chromosome is reversed.
What is a translocation chromosome mutation?
Translocation is where a section of chromosome is added to a chromosome, not its homologous partner.
What is the overall effect of chromosome mutations.
These substantial changes in chromosome mutations often make them lethal.
What is the overall effect of chromosome mutations.
These substantial changes in chromosome mutations often make them lethal.
What is an example of a Chromosome deletion mutation?
Cri-du-chat syndrome, caused by deletion of part of the short arm of chromosome 5
What is an example of a chromosome duplication mutation?
Duplication of Oncogenes is a common case of Cancer
What is an example of a chromosome Translocation mutation?
Chronic myeloid leukaemia is caused by a reciprocal translocation of sections of chromosome 22 and chromosome 9.
What is an example of an chromosome inversion mutation?
Haemophillia A can be caused by an inversion within the gene that produces the clotting factor (factor VIII)
What is an example of a Missense substitution?
Phenylketonuria, Sickle cell disease.
What is an example of a nonsense substitution?
Duchenne muscular dystrophy
What is an example of a splice site mutation?
Beta thalassemia
What is an example of Frame shift insertions and deletions?
Tay-Sachs disease
What is an example of a frame-shift deletion?
Cystic Fibrosis
