Types of mutation Flashcards

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1
Q

What are nonsense mutations?

A
  • nonsense mutations result in a codon becoming a stop codon instead of coding for an amino acid
  • this results in a shortned protein being synthesised
    • usually non-functional
  • usually negative or harmful effects on phenotypes
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2
Q

What are missense mutations?

A
  • result in the incorportation of an incorrect amino acid (or amino acids)
  • into the primary structure when the protein is synthesised
  • the result depends on the role the amino acid plays in the structure and therefore the function of the protein synthesised
  • couldbesilent, benefecial, or harmful
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3
Q

What is a conservative mutations?

A
  • occurs when the amino acid change leads to an amino acid being coded for whcih has similar properties to the original
  • this means the effect of the mutations is less severe
  • can also be a non-conservative mutation (different properties cba to make new flashcard more likely to cause disease x)
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4
Q

What is an example of a recent mutation?

A
  • ability to digest lactose,
  • thought to be the result of a relatively recent mutation
  • most mammals in the world become lactose intolerant after they cease to suckle
  • found primarily in European populations
    • who are more likely to farm cattle
  • helps prevent osteoprosis
  • prevents starvation during famines
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5
Q

What are the different changes in chromosome structure?

A
  • deletions
    • a section of chromosome breaks off and is lost within the cell
  • duplication
    • sections get duplicated on a chromosome
  • translocation
    • a section of one chromosome breaks off and joins another non-homologous chromosome
  • inversion
    • section of chromosome breaks off, is reversed, and then join back onto the chromosome
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