Unit 4 - Ch 13 - Mutations Flashcards

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1
Q

Mutations

A

Change in the DNA nucleotide sequence

  • occur randomly
  • usually harmful
  • analogous to misspelling words
  • are permanent if not lethal to the cell (cell cycle/replication)
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2
Q

Point mutation

A
AKA base-pair substitution, involves a change in only one pair of nucleotides. 
Types:
Missense 
Nonsense
Silent
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3
Q

Missense mutations

A

Replacement of one amino acid for another.

=> cystic fibrosis, sickle c ell anemia

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4
Q

Nonsense mutations

A

Base-pair substitutions that convert an amino acid-specifying codon to a stop codon.
- usually problematic

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5
Q

Silent mutations

A

Base-pair substitutions that have no discernible effect. The mutation does not alter the amino acid sequence.

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6
Q

Frameshift mutation

A

Insert or delete one or more nucleotides of DNA to shift the codon sequence. Results in a bulge in the DNA
- usually serious problems resulting

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7
Q

Somatic mutations

A

Occur in the non-reproductive tissues (somates)

- not transmitted to offspring

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8
Q

Germ mutations

A

Occur in the reproductive tissues (ovaries and testes)

- may be transmitted to offspring (meiosis)

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9
Q

Spontaneous mutation rate

A

Occurs anywhere from 1/1,000 to 1/1,000,000 cells

- humans average 3,000 mutations

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10
Q

Mutagens

A

increase spontaneous mutation rate (10x to 1000x)

=> radiation (gamma, x-ray, UV), chemical compounds (benzpyrene)

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