Mutations Flashcards

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1
Q

what is a mutation

A

changes in DNA that MAY OR MAY NOT affect phenotype

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2
Q

what are the 2 causes of mutations

A
  1. spontaneous
    - arise from errors in replication
  2. induced
    - forced by mutagens
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3
Q

what is a mutagen

A

an agent that DIRECTLY causes mutations
- carcinogens, radiation

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4
Q

what are the common causes of DNA mutation

A
  1. base mismatch
  2. single-strand break
  3. double strand break
  4. interstand crosslinks
  5. bulky adducts/intrastrand crosslinks
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5
Q

what are germ line cells

A

cells that become gametes

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6
Q

what happens if a mutation occurs in a germ line cell? what is that mutation called

A

gametic mutation
- significant in germ line cells because it is passed down to offspring
- new allele can be created

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7
Q

what is an allele

A

a gene or different version of a gene that gives you different amino acid sequence

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8
Q

what type of mutations cannot be passed down

A

somatic mutations
- occur in NON SEX cells (body tissues)

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9
Q

what are the types of mutations

A
  1. point mutations
  2. chromosomal mutations
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10
Q

point mutations

A

occur and involve only a SMALL number of NUCLEOTIDES
- substitutions
- insertions/deletions

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11
Q

chromosomal mutations

A
  • deletions of BIG CHUNKS of CHROMOSOMES
  • chromosomes swapping sections
  • inversions…can make a new dna
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12
Q

what are the outcomes of mutations

A
  1. silent
  2. missense
  3. nonsense
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13
Q

silent mutation

A

no change to amino acid sequence

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14
Q

missense

A
  1. conservative: amino acid seq properties conserved (dont change)
    - non polar a.a switched with another non polar a.a (wont change much, conformation will be the same)
  2. nonconservative: a.a seq properties changed
    - non polar a.a switched with polar a.a
    - conformation changes
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15
Q

nonsense

A

early STOP codon
- protein doesnt really do anything

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16
Q

what are the values of mutations

A
  1. beneficial
  2. neutral
  3. harmful