Test 3- Mutations and Mendelian Genetics Flashcards

(28 cards)

1
Q

point mutations

A
bp substitution
missense mutation
nonsense mutation
neutral mutation
frameshift
forward
reverse
suppressor
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2
Q

bp substitutions

A

transition

transverion

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3
Q

transition

A

AT-GC

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4
Q

transversion

A

AT-TA

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5
Q

missense mutation

A

different aa inserted

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6
Q

nonsense mutation

A

premature stop codon

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7
Q

neutral mutation

A

no change in protein function

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8
Q

silent mutation

A

no change in aa

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9
Q

frameshift mutation

A

changes reading frame w/ addition or deletion

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10
Q

forward mutation

A

wt to mutant

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11
Q

reverse mutation

A

mutant to wt

true: back to wt aa
partial: change that restores partial function

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12
Q

suppressor mutation

A

mutation at another site that diminish or abolish affect of original mutation

intragenic: same gene
intergenic: different gene
- tRNA nonsense suppressor

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13
Q

spontaneous mutations

A

replication errors

  • tautomeric shift
  • insertion/deltion
  • chemical changes (depurination/deamination)
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14
Q

tautomeric shifts

A

AC and TG base pairing

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15
Q

insertion/deletion

A

looping occurs in regions with repeated bp sequence

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16
Q

depurination

A

A or G bond to sugar breaks losing base

17
Q

deamination

A

removes amino group from base

C to U, 5mC to T

18
Q

induced mutation

A
ionizing
-xrays
UV light
chemical mutagens
-base analogs
-base modifiers
-intercalating agent
19
Q

xrays

A

break sugar phosphate backbone

20
Q

UV

A

forms thymine dimers

21
Q

Base analogs

A

5 bromo-uracil (like T)

bp in enol state with G (TA to CG)

22
Q

base modifiers

A
nitrous acid
-deaminates GCA (G no effect)
-causes transition mutations
-can revert
hydroxylamine
-hydoxylates C to pair with A
-cant revert
alkylating agents
-MMS/EMS
-GC to AT
23
Q

intercalating agents

A

proflavin, acridine, ethidium bromide

cause bp insertions/deletions by inserting into helix

24
Q

ames test

A

tests for mutagens

his auxotrophs plated with liver enzymes and potential mutagen to look for revertants as seen by inc. growth

25
dna repair
dna pol 3'-5' exonuclease activity light repair of T^T- photlyase dimer activated by light, splits dimer demethylation of G by methyltransferase base excision (cut out and DNA pol and ligase fill in) nucleotide excision (uvrA and B scan for damage; A released/ C binds; cut; D unwinds; DNA pol I and ligase fill) methyl directed mismatch repair (MutS binds mismatch; MutL and H bind with unmethylated GATC and S; MutH nicks strand, exonuclease removes mismatch; DNA pol III and ligase fill) SOS response (RecA filament kicks off LexA repressor which synthesizes SOS (pol IV or V), pol III synthesizes to mutation, pol IV or V synthesize at mutation, pol III finishes)
26
law of segregation
two members of gene pair segregate from each other during meiosis
27
law of independent assortment
genes on different chromosomes behave independently during meiosis
28
chromosomal theory of inheritance
sutton and boveri- chromosomes transfer like mendels factiors stevens and wilson- x chromosome and sex link morgan- white eyed male fly doesnt fit 3:1 bridges- nondisjunction