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Bio 140 > Lecture 02: Mutations > Flashcards

Lecture 02: Mutations Flashcards

1
Q

what is mutation?

A

changes in the sequence of the DNA

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2
Q

in eukaryotes, mutations can occur in: ________ and _________

A

somatic and germline cells

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3
Q

types of mutation

A
  • according to size
  • effect on gene function
  • effect on DNA
  • effect on protein
  • direction
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4
Q

what are the types of mutation according to size?

A
  • point
  • segmental
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5
Q

types of mutation that has an effect on gene function

A
  • loss of function
  • gain of function
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6
Q

type of mutation that has an effect on DNA

A
  • structural
  • spatial
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7
Q

what is structural mutation?

A

change in nucleotide content

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8
Q

different DNA structural mutation

A
  • substitution
  • deletion
  • insertion
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9
Q

types of substitution mutation

A
  • transition
  • transversion
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10
Q

which type of substitution mutation is more usual in nature?

A

transition

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11
Q

types of DNA spatial mutation

A
  • inversion
  • translocation
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12
Q

it is the inability to clot blood

A

Hemophilia

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13
Q

in what clotting factor are Hemophilia A and B deficient in?

A

VIII and IX respectively

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14
Q

types of mutations that have an effect on protein

A
  • silent
  • nonsense
  • missense
  • neutral
  • frameshift
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15
Q

what is nonsense protein mutation?

A

normal codon to a stop codon

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16
Q

what is missense protein mutation?

A

change in amino acid that changes protein function

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17
Q

sickle cell anemia is what type of mutation?

A

missense mutation; Glu to Val

18
Q

types of mutations based on direction

A
  • forward
  • reverse
19
Q

what are the origins of mutation?

A
  • spontaneous
  • error-prone replication bypass
  • errors in DNA repair
  • induced
20
Q

what is spontaneous origin of mutation?

A

mutation due to molecular decay

21
Q

types of spontaneous origin of mutation

A
  • tautomerism
  • depurination
  • deamination
  • slipped strand mispairing
22
Q

what is tautomerism?

A

base change due to repositioning of H

23
Q

what is depurination?

A

hydrolysis of a purine (A or G)

24
Q

what is deamination?

A

removal of amine group in C or A, resulting in U or hypoxanthine, respectively

25
Q

what is slipped strand mispairing?

A

denaturation of the new strand from replication then renaturation in a different spot

26
Q

what is error-prone replication bypass?

A

an origin of mutation that allows the DNA replication machinery to replicate past DNA lesions

27
Q

what is mutation caused by errors in DNA repair?

A

repair in double strands breaks in DNA that sometimes lead to errors

28
Q

pathway involved in mutation caused by errors in DNA repair

A

non-homologous end joining pathway

29
Q

what is induced origin of mutation?

A

mutation caused by mutagenic agent or environment

30
Q

types of induced origin of mutation

A
  • non-ionizing radiation
  • ionizing radiation
  • chemicals
31
Q

example of non-ionizing radiation?

A

UV light

32
Q

describe ionizing radiation as origin of mutation

A

results in deletions or insertions in DNA

33
Q

examples of chemicals that cause mutations

A
  • base analogs
  • intercalating agents
  • alkylating agents
  • oxygen radicals
34
Q

different repair mechanisms for mutations

A
  • photoreactivation
  • excision repair
  • mismatch repair
  • SOS repair
35
Q

what is photoreactivation repair mechanism?

A

removal of damaged DNA by light-dependent enzyme

36
Q

gene that encodes the enzyme that removes the damaged DNA via photoreactivation

A

phr gene

37
Q

what is excision repair?

A

excision of damaged part

38
Q

enzyme involved in excision repair

A

DNA pol I

39
Q

what is SOS repair?

A

allows DNA replication to bypass lesions or errors in the DNA

40
Q

these are the regions in the genome that are more prone to mutations than others

A

hotspots

41
Q

what is pseudogene?

A

resembles functional genes but contain defects that prevent it from being expressed

42
Q
A

Bio 140 (2 decks)

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