EXAM 4 - Chapter 15, Mutation, DNA Repair, Cancer Flashcards

1
Q

Mutation are…

A

permanent and heritable changes to the DNA

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2
Q

Point mutations

A

changes to nucleotide sequence of individual genes

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3
Q

3 major types of point mutations

A

substitution, addition, deletion

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4
Q

Chromosomal mutations

A

changes to the entire gene order on chromosomes

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5
Q

(Substitution Mutations)…

A

replace one nucleotide with another

when single base is changed, leads to different mRNA and then different protein

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6
Q

There are ___ types of substitution mutations

A

three

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7
Q

The three types are

A
  • missense (changes one amino acid)
  • nonsense (change to a stop codon)
  • silent (no affect/change)
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8
Q

(Substitution Mutations) the first mutation missense causes….

A

one DNA nucleotide to be substituted for another, which means one codon in the resulting RNA will be altered

this will typically alter one amino acid in the resulting protein

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9
Q

(Substitution Mutations) The changes of one amino acid could…

A

produce little to no effect, or a lethal one

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10
Q

Example of very harmful substitution mutation is…

A

sickle cell anemia

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11
Q

(Substitution Mutations) The second mutation nonsense is when…

A

the codon is changed to a stop codon, this would most likely destroy the protein’s function

the earlier in the chain you stop, the worse it is

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12
Q

(Substitution Mutations) the third silent mutation is when…

A

because or redundancy of the genetic code, that new codon would code for the same amino acid

protein would not be changed and function normally

since there are a few different combos for the same protein, no affect to polypeptide

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13
Q

Addition mutations is when…

A

add one or more nucleotides to a gene

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14
Q

Deletion mutation is when…

A

delete one or more nucleotides from a gene

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15
Q

Both deletion and addition result on…

A

frameshift mutations

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16
Q

Frameshift mutation

A

shifts the triplet reading frame of the codons

since all codons read in 3’s, so adding just one shifts everything and its messed up

many amino acids after addition will be different, meaning everything is messed up

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17
Q

Mutation outside coding regions…

A

for the nucleotides can also have effects

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18
Q

mutation on promoter…

A

may increase or decrease the rate of transcription

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19
Q

mutation at Splice junctions

A

may alter the ability of the pre-mRNA to be properly spliced

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20
Q

mutation on Intergenic region (space between the genes)

A

not as likely to have an effect on gene expression

21
Q

(germ vs somatic) Only mutations in the…

A

germ line cells will be passed on to individuals of next generation

22
Q

(germ vs somatic) Mutations in….are not passed on

A

somatic cells

23
Q

(germ vs somatic) somatic mutations…

A

like cancers, can have serious health effects for the individual but ONLY INDIVIDUAL, NOT their children

24
Q

Mutations can be result of…

A

natural causes or outside facots

25
Q

natural causes called

A

spontaneous

26
Q

outside factors called

A

induced

27
Q

Causes of mutations are

A

mutagens

28
Q

Mutagens are…

A

chemicals or physical factors that alter the structure of DNA

29
Q

Nucleic Acids are…

A

chemicals and can enter into reactions which convert them to something other than the four normal bases of DNA

30
Q

Nitrous Oxide is found in….and can…

A

smoke meats….can remove the amino groups from Cytosine or Adenine, replacing it with a carbonyl group to produce Uracil and Hypoxanthine

31
Q

Cytosine normally pairs with Guanine, but…

A

When converted to uracil, pairs with adenine

32
Q

So a C-G pair is converted to…

A

U-A (T-A) pair, which is A SUBSTITUTION MUTATION

33
Q

A normally pairs with T, but…

A

when converted to Hypoxanthine, it pairs with cytosine

SO A-T pair in converted to H-C (G-C), another SUBSTITUTION METHOD

34
Q

One cause of mutation is…

A

base analogues

35
Q

Base analogues are…

A

similar enough to the “real” DNA bases to be incorporated into DNA, BUT they dont have the same faithfulness in pairing

36
Q

The base analogues produce

A

substitution mutations

37
Q

Another cause on mutations is…

A

x-rays

38
Q

X-rays (ionizing radiation)…

A

physically cut DNA which may not be repaired correctly

bases could be removed, strand could be cut

39
Q

Third cause of mutations is…

A

UV light

40
Q

UV light…

A

has hgih enough energy to promote convalent linkages between adjacent Pyrimidine bases of the backbone

DNA Polymerase does not recognize the dimer as a normal base and will randomly insert a different one on new strand

so this promotes substitution replications

41
Q

______ is a solution to mutations

A

DNA repair

42
Q

__________ is one of the more widspread and better understood mechanisms of DNA repair

A

Nucleotide Excision Repair

Excision is cutting something out

43
Q

there is a complex called ____ that…

A

UvrABA that scans DNA looking for error, such as thymine dimers

it is an enzyme

44
Q

When a mutation is found…

A

UvrB releases the UvrA’s and recruits UvrC

45
Q

The UvrC…

A

cuts the sugar phosphate backbone on BOTH sides of the mutation

46
Q

Then…

A

UvrD (a helicase) is recruited to remove the damaged section from one cut to the other

47
Q

Then..

A

DNA Polymerase then replaces the damaged/removed section, using intact/undamaged strand as template

48
Q

Finally…

A

DNA ligase connect (closes the gap)the new strand to the original