Mutations Flashcards
What are mutations?
Mutations are changed in the DNA that can result in no protein or an altered protein being synthesised
What is the definition of a single gene mutation?
Single gene mutations involve the alteration of a DNA nucleotide sequence as a result of the substitution, insertion, or deletion of nucleotides.
What are examples of single gene mutations?
Insertion
Deletion
Substitution
Single gene mutations alter what?
Single gene mutations alter the NUCLEOTIDE sequence.
What are the 3 types of substitution mutation?
Missense
Nonsense
Splice-Site
What are missense mutations?
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 are nonsense mutations?
Nonsense mutations result in a premature stop codon being produced which results in a shorter protein.
What are Splice-Site mutations?
Splice-Site mutations are mutations that result in some introns being retained and/or some exons not being included in the mature transcript.
What single gene mutations cause frame-shift mutations?
Insertion or Deletion
What are frame shift mutations?
Frame shift mutations are mutations that cause all of the codons and all of the amino acids after the mutation to be changed.
What effect do frame shift mutations have on the structure of protein produced?
A major effect
What are chromosome structure mutations?
Mutations that result in the genes of chromosomes to be changed, deleted or added.
What are the four chromosome structure mutations?
Duplication
Deletion
Inversion
Translocation
Describe the duplication chromosomal mutation
Duplication is where a section of a chromosome is added from its homologous partner
Describe the deletion chromosomal mutation
Deletion is where a section of a chromosome is removed
