DNA mutations Flashcards

1
Q

what is a silent mutation?

A

when a nucleotide substitution results in a different codon that still encodes the same amino acid

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2
Q

what is the consequence of a silent mutation?

A

the protein is unaffected so their is no function difference

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3
Q

what is a missense mutation?

A

nucleotide substitution results in a codon that encodes a different amino acid

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4
Q

what is the consequence of a missense mutation?

A

the primary protein sequence is altered which can be radical or conservative:
radical- new amino acid R group different in charge or size= potential altered secondary or tertiary structure affecting function
conservative- similar amino acid R group size and charge = similar protein shape and function

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5
Q

what is a nonsense mutation?

A

nucleotide substitution results in a stop codon that stops translation

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6
Q

what is the consequence of nonsense mutations?

A
  • protein truncated and so may not function properly or at all
  • Nonsense Mediated Decay (NMD)
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7
Q

what is nonsense-mediated decay?

A

process during translation that detects transcripts with premature stop codons and degrades them

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8
Q

what are insertion mutations?

A

changes the number of nucleotides in a gene by adding a piece of DNA

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9
Q

what is the consequence of a insertion mutation?

A

FRAMESHIFT MUTATION
Every nucleotide in the gene is shifted along by one downstream from the insertion, therefore the resulting mRNA will be shifted one. Different amino acids will be incorporated so the gene may not function.

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10
Q

what is a deletion mutation?

A

removes a piece of DNA

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11
Q

what is the consequence of a deletion mutation?

A

FRAMESHIFT MUTATION
every nucleotide is shifted up one therefore different amino acids are incorporated resulting in potential alter of function

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