9.8 DNA mutations Flashcards

1
Q

UV radiation can cause chemical binding of adjacent _________. The most common mutant structure of DNA damage is the _________.

A

pyrimidines

thymine dimer

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2
Q

chemical mutagens have a direct effect on the _________ of the base, changing it’s normal base pairing

A

chemical structure

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3
Q

define conservative mis-sense mutation

A

a single amino acid change caused from a single base change, however, it changed to a similar amino acid

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4
Q

mutation called when you have a single amino acid change caused from a single base change. The single base change in the coding region of a gene can alter the codon so it becomes a different amino acid. This can range in severity depending on where the change is.

A

mis-sense mutation

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5
Q

for inversion mutations? what could happen if the break occurs in the middle of a gene? what if it encompasses the entire gene?

A

if in the middle, could be disastrous

if entire gene, could still function normally

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6
Q

in the disease __________ ___________, there are defects in the DNA repair mechanism for thymine dimers from UV damage.

A

Xeroderma pigmentosum

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7
Q

what is the mutation called when you put in new termination codon (NO amino acids beyond this point). Protein synthesis will stop at the new termination codon, truncated polypeptide. Generate premature stop codons.

A

nonsense mutations

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8
Q

addition or deletion of a single base, alter the reading frame

A

frame shift mutation

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9
Q

mutations that generate pre-mature stop codons:

A

nonsense mutations

NO more protein

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10
Q

transposons and retroviruses are an example of _______.

A

insertions

they spontaneously insert themselves into DNA

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11
Q

define non-conservative mis-sense mutation

A

a single amino acid change caused from a single base change, however, it changed to a completely characteristic of amino acid.

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12
Q

what form of large-scale mutations genes occur when there was a break in the DNA - and it got flipped when repair mechanisms came in. Inverted. Scrambled gene

A

inversions

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13
Q

chemical mutagens alter _____ _______

A

base pairing

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14
Q

point mutations contrast from large-scale mutations. what are 3 types of point mutations?

A

mis-sense, nonsense, frameshift

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15
Q

what can cause deletions in DNA?

A

ionizing radiation, X-rays, anything that physically breaks DNA

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16
Q

In Xeroderma pigmentosum, there is a defect in _________ for dimers, leading to a high rate of:

A

DNA repair

skin cell death, high rate of skin cancers

17
Q

what main form of large-scale mutations occurs when after a break, something gets added.

A

insertions

18
Q

Burkitt’s lymphoma is caused by _________ of a proto-oncogene next to a _____________, which is very active

A

translocation

Ig heavy chain gene

19
Q

in insertions, what happens if something is inserted into a coding region or regulatory region?

A

may completely destroy gene function

20
Q

due to UV damage, once ________ are linked, they are no longer able to __________ correctly

A

thymines

base pair

21
Q

what are common sources of radiation exposure?

A

CT (even higher than spending an hour on a power plant)

X-ray is really small

22
Q

________________ is a cancer of lymphocytes, Occurs because during translocation, the c-myc proto-oncogene is ___________ next to Ig heavy chain region. Since the Ig is really active, it activates the myc gene.

A

Burkitt’s

translocated

23
Q

what main form of large-scale mutations occurs when DNA is physically broken and then rejoins?

A

deletions

tens to millions of base pairs can be removed

24
Q

main type of large-scale mutation where a whole piece of the chromosome is added or swapped with a whole piece of another chromosome?

A

translocations.