Mutations Flashcards

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1
Q

definition of Mutation:

A

random changes to DNA sequences

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2
Q

what is a single gene mutation?

A

a change in a DNA nucleotide sequence in one gene.

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3
Q

what is meant by a missense mutation?

A

one amino acid being changed for another. may result in a non-functional protein or have little effect on the protein.

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4
Q

what is meant by a nonsense mutation?

A

premature stop codon being produced which results in a shorter protein.

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5
Q

what is meant by a splice site mutation?

A

some introns being retained and/or some exons not being included in the mature transcript.

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6
Q

examples of single gene mutations:

A

insertions, deletion, substitution

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7
Q

examples of nucleotide substitutions:

A

missense, non-sense, splice-site.

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8
Q

examples of nucleotide substitutions in insertion and deletion:

A

frame-shift mutation.

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9
Q

what is meant by a frame-shift?

A

after the mutation it causes all the codons and amino acids to be changed.

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10
Q

examples of chromosomes mutations:

A

duplication, deletion, inversion, translocation.

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11
Q
what happens in: 
duplication
deletion
inversion
translocation
A
  1. where a section of chromosome is added from its homologous partner
  2. where a section of chromosomes is removed
  3. where a section of chromosome is reversed
  4. where a section of chromosome is added to a chromosome but not its homologous partner
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12
Q

how are mutations beneficial for evolution?

A

duplication allows potential beneficial mutations to occur in duplicated a gene, while the original gene can still be expressed to produce protein.

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