Point Mutations Flashcards

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1
Q

What is a point mutation?

A

A mutation affecting single nucleotide change

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2
Q

What are the two ways a point mutation can be classified?

A
  • Mutations reffering to what happens to base sequence
  • Mutations reffering to what happens to amino acid formed
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3
Q

What is a Point Mutation - Deletion?

A
  • A nucleotide is lost from DNA sequence
  • Results in a frameshift
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4
Q

What is a frameshift?

A

When reading frame is moved (the section of 3 bases)

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5
Q

What is the effect of a Deletion Point Mutation?

A
  • Codons not being read properly
  • Because bases are read in triplets, and all subsequent bases would shift by one base
  • Usually amino acid sequence will be enitirely different
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6
Q

Desrcibe seriousness of Deletion Point Mutation

A
  • Very Serious mutations
  • Because lots of amino acids are changed
  • So, protein will have a different shape
  • Will likely be non-functional
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7
Q

What is another name of Insertion Point Mutations?

A

Adition Point Mutation

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8
Q

What is an Addition Point Mutation?

A
  • When a nucleotide is added to DNA sequence
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9
Q

What are the effects and seriousness of Insertion Point Mutation?

A

Same as Deletion

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10
Q

What is a Substitution Point Mutation?

A

Substitution mutations result in change of one base

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11
Q

What are effects of Substitution Point Mutation?

A
  • No frameshift occurs
  • Only 1 amino acid potentially changed
  • So, protein may still be functional as before
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12
Q

What is a mis-sense mutation?

A
  • Occurs when a change in base leads to different amino acids being coded for
  • Polypeptide will have a single amino acid that is different

Mutation reffering to amino acid change

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13
Q

How serious is a mis-sense mutation?

A
  • Not as serious as other mutations
  • Only 1 amino acid changed
  • Protein may still function as before
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14
Q

What is a nonsense mutation?

A
  • Occurs when substitution of base leads to a premature stop-codon being coded for
  • This leads to premature end to synthesis of polypeptide

FInal protein formed is refered to as truncated protein

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15
Q

Describe seriousness of Nonsense Mutation

A
  • Successfull synthesis of final proetin is very unlikely
  • Almost certainly not be able to function normally
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16
Q

What is a Silent Mutation?

A

Occurs when substitution of base still codes for same amino acid as original base

17
Q

How are silent mutations possible and what are the effects?

A
  • Possible due to degenerate code
  • No effect on production of final polypeptide
18
Q

What is Degenerate Code?

A

Multiple codons code for same amino acid