DNA Mutation And Repair Flashcards

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1
Q

physical agents (mutagens)

A

Ionizing radiation, ultraviolet light

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2
Q

Chemical agents (mutagen)

A

Reactive Oxygen Species (ROS): peroxide, superoxide, and hydroxyl radical

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3
Q

T or F. All mutagens change DNA

A

True

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4
Q

T or F. Mutagens are a subtype of carcinogens

A

False. Carcinogens are a subtype of mutagens

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5
Q

Mutations that occur without exposure to mutagenic agents. These often arise during DNA replication

A

Spontaneous mutations

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6
Q

Mutation mechanisms

A

Substitution, insertion, deletion

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7
Q

Base pair substitution 3 effects

A

Silent mutations- No change
Missense mutations- different amino acid
Nonsense mutations- stop codon

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8
Q

What does it mean to say that the genetic code is degenerate

A

Multiple codons can code for the same amino acid

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9
Q

The new and original amino acid have similar structures.

A

Conservative missense mutation

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10
Q

The new and original amino acid have different structures

A

Nonconservative missense mutation

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11
Q

What are the 3 stop codons

A

UGA, UAA, UAG

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12
Q

This mutation causes the protein production to stop prematurely and therefore, truncates or shortens the protein, typically rendering it entirely nonfunctional

A

Nonsense mutation

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13
Q

Insertion and deletion can have enormous impacts when this occurs?

A

Frameshift

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14
Q

T or F. All insertions and deletions are frameshift mutations.

A

False, if the nucleotides added or deleted are multiple of 3, it won’t shift the frame

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15
Q

Point mutations can be?

A

Substitution, insertion, or deletion

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16
Q

Mutations that partially or entirely prevent a protein from functioning properly

A

Loss of function mutations

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17
Q

Mutations that cause proteins to take on a new function

A

Gain of Function

18
Q

Chromosomal abnormalities include?

A

Deletion, duplication, inversion, insertion, translocation, and aneuploidy

19
Q

Which of the chromosomal abnormalities take place on a single chromosome

A

Deletion, duplication, and inversion

20
Q

T or F. Deletion in a segment of gene in one chromosome may not be detrimental if the other chromosome can compensate for this loss.

A

True

21
Q

This chromosomal abnormality does not change gene dosage and therefore, most have no noticeable effects

A

Inversion

22
Q

These 2 chromosomal abnormalities tend to effect 2 chromosomes

A

Insertion and translocation

23
Q

This is when a segment of one chromosome is exchanged with genetic material in the other.

A

Translocation

24
Q

When the translocation does not result in a loss or gain of extra genes and is typically harmless it is called?

A

Balanced translocation

25
Q

While an individual may not be affected by translocation, its child could. The child could have what kind of translocation

A

Unbalanced

26
Q

This when a segment of one chromosome transfers to the other only.

A

Insertion

27
Q

These are generally non-coding genetic elements that can initiate their own movement form chromosome to chromosome

A

Transposons

28
Q

Transposons comprise what percentage of the genome

A

40%

29
Q

T or F. Transposition is not the same as translocation as the movement is one way and no exchanging occurs

A

True

30
Q

An abnormal number of copies of chromosome in the cell

A

Aneuploidy

31
Q

This chromosomal abnormality typically results form nondisjunction

A

Aneuploidy

32
Q

T or F. The risk of aneuploidy increases with maternal age .

A

True

33
Q

The ability to proofread the growing strand is also known as

A

3’ -> 5’ exonuclease

34
Q

Occurs immediately after DNA replication and continues through the G2 stage of the cell cycle.

A

Mismatch repair

35
Q

T or F. The old strand of the DNA strand is methylated more than new strand

A

True

36
Q

T or F. Mismatch repair functions only to repair errors introduced during DNA replication

A

True

37
Q

2 repair pathways that can repair errors throughout the cell cyle

A

Base excision repair and nucleotide excision repair

38
Q

This removes one base and is this type of repair can only fix relatively small scale errors such as mismatched pairs, oxidized bases, or maybe the mistaken inclusion of uracil in DNA

A

Base excision repair

39
Q

This DNA repair can remove multiple bases, allowing it to fix larger mutations such as pyrimidine dimers

A

Nucleotide excision repair

40
Q

What can cause pyrimidine dimers

A

UV light

41
Q

What are the pyrimidine bases

A

Thymine and cytosine