2.15 DNA Mutations Flashcards

0
Q

What is a nonsense mutation

A

When a termination codon has been placed in the middle of the gene that results in premature termination

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1
Q

Many DNA Polymerase have what type of activity to reduce error?

A

Exonuclease activity that can go in either direction. This helps Proofread.

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2
Q

What mutation is a single amino acid replacement in the protein

A

Missense mutation

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3
Q

What is a frameshift mutation

A

The addition or deletion of one or two base pairs

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4
Q

Describe the DNA damage of Mispairing

A

One mis-paired base will result in complete change of sequence after multiple replications

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5
Q

What type of DNA damage occurs during the lost of the purine base and therefore the nucleotide

A

Depurination

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6
Q

What type of DNA damage occurs when the structure is completely changed to a different base?

A

Deamination

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7
Q

What occurs to the DNA during UV damage?

A

Produces Thymine dimers which are covalent bonds between adjacent pyrimidines particularly Thymine

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8
Q

Name the three strategies of DNA repair

A
  1. Direct Reversal
  2. Base Excision Repair
  3. Nucleotide Excision Repair
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9
Q

What is the product of the deamination of Adenine

A

Hypoxanthine

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10
Q

Deamination product of Guanine?

A

Xanthine

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11
Q

Deamination production of Uracil

A

Cytosine

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12
Q

Deamination product of Thymine

A

No deamination

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13
Q

T or F, A number of carcinogens are mutagenic because they add bulky chemical groups to the DNA which distort the molecule

A

True

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14
Q

Describe Direct Reversal

A

A methylated base can be demethylated by an enzyme that transfer the methyl group to a cysteine residue within its core

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15
Q

Describe Base Excision repair

A

When a base is damaged through deamination or depurination (etc.), the base is removed as well as the sugar. DNA polymerase adds new nucleotide and DNA ligase seals the hole

16
Q

Describe Nucleotide excision Repair

A

A group of nucleotides are excised and repaired by DNA polymerase and DNA ligase

17
Q

What type of double stranded DNA break repair methods fixes the break WITHOUT losing nucleotides?

A

Homologous end joining

18
Q

What occurs during Non-homologous end joint fixing?

A

The accidental break is cleaned up by Nuclease
Ligase reattaches broken ends
There is a deletion of DNA sequence that was damaged

19
Q

What disease is characterized by a defect in the Nucleotide Excision Repair system

A

Xeroderma Pigmentosum