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genetics > chapter 15 and 17 > Flashcards

chapter 15 and 17 Flashcards

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Biology 101 flashcards
1
Q

mutation

A

variants arise from heritable genetic changes

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1
Q

spontaneous mutation

A

error in DNA synthesis (10^-8)

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2
Q

induced mutation

A

errors provoked by base analogs, radiation (10^-5)

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3
Q

forward mutation

A

change from wild type (more likely than reverse)

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4
Q

reverse mutation

A

change from mutant back to WT

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5
Q

mutation rate

A

number of mutations per cell (usually mutation per cell division)

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6
Q

mutation frequency

A

number of mutant individuals per total number of organisms in population

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7
Q

somatic mutations

A

occur in nonreproductive cells, NOT inheritable

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8
Q

germinal mutations

A

occur in reproductive tissue, can be passed onto gametes and inherited

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9
Q

morphological mutations

A

phenotypic affect
cause change in form, used to study metazoans

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10
Q

biochemical/metabolic mutations

A

phenotypic affects
used to study microbes that aren’t common

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11
Q

2 types of biochemical/metabolic mutations

A

resistance mutation (ability to grow in presence of inhibitor) and metabolic mutation (prototrophs vs autotrophs)

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12
Q

lethal mutation

A

you dead fr

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13
Q

conditional mutation

A

phenotypical, phenotypes only conferred under specific conditions (restrictive but not permissive)

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14
Q

DNA Level

A

molecular defect, insertions and deletions

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15
Q

Protein Level

A

missense and nonsense

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16
Q

regulatory site mutation

A

mutation in noncoding sequence (promotors, ribosome binding sites, splice sites, etc)

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17
Q

splice site mutation

A

DNA mutation that affect splice sites

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18
Q

Luria and Delbruck Experiment (1943)

A

e.coli resistance to T1 udes to determine if phage induced physiological change or random mutation

physiological: similar resistance in all cultures
random mutation: exponential increase in resistant e.coli

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19
Q

Luria and Delbruck determined

A

determined that mutations are random!

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20
Q

Luria and Delbruck issue

A

they grew cells in T1 which is unreliable

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21
Q

lederbergs (1952)

A

used master and replica plate to demonstrate that utations are random

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22
Q

mutagens

A

radiation, chemicals, error prone conditions

used to increase mutation rate

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23
Q

Selection

A

when you have cells that are susceptible to something and use that to pick certain cells

only MARKED cells survive

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24
Q

selection step by step

A

1) Mutagenize cells
2) spread 10^8 cells on medium with pheromone
3) recover the mutant cells that form colonies
4) determine how many genes have been identified with complimentation

25
Q

screen

A

both WT and mutants can grow but can be PHENOTYPICALLY distinguished

26
Q

screen steps

A

1) mutagenize cells
2) spread 10^5 cells on rich medium
3) replica plate to medium w/o leucine
4) recover colonies that don’t grow on leucine from master plate
5) determine how many genes have been identified with complimentation

27
Q

large changes in chromosome structure affect…

A

gene position, copy number, and integrity

28
Q

methods to detect chromosomal rearrangement

A

cytologically and genetic analysis

29
Q

cytologically

A

viewing structures under microscope

30
Q

genetic analysis

A

heritable phenotypes resulting from structural changes

31
Q

how rearrangements occur

A
  • chr crossing over btwn repeated sequences
  • broken ends are highly reactive and bind with other broken pieces
  • alterations in chr affects pairing and segregation
32
Q

deletion (cytological consequence)

A

small deletions are sometimes viable in norm homo chr, visualized as deletion loop in meiosis

33
Q

deletion (genetic consequences, homozygous deletions)

A

INTRAGENIC HOMO DELETE: lethal if in essential gene
MULTIGENIC HOMO DELETE: Always lethal, you dead fr

34
Q

deletion (genetic consequences, heterozygous deletions 3 EFFECTS)

A
  1. phenotypes due to LOSS OF GENETIC BALANCE (dosage affect)
  2. Psuedodominance (expression of recessive allele in single copy)
  3. cannot revert to normal
35
Q

adjacent duplication

A

next to eachother on same chr, either tandem repeats or reverse orientation

36
Q

insertional dupes

A

located elsewhere in genome

37
Q

duplication cytological consequences

A

looping out unpaired region in meisos when homolog pairs synapse

38
Q

duplication genetic consequences

A

phenotypical abnormalities

39
Q

inversion (cytological consequences)

A

inversion loops (one chr twists at the ends of the inverted part to pair with untwisted)

40
Q

inversion genetic consequenes

A

reduction in recombo frq, partial sterility

41
Q

reciprocal translocation

A

when non homolog chr exchange parts

42
Q

euploidy

A

organisms with whole number multiples of n

43
Q

paraploid

A

euploid with more than 2 sets (more than diploid)

44
Q

haploid

A

number of chr in one gamete (n)

45
Q

polyploid

A

multiple sets of chromosomes (common in plants)

46
Q

autopolyploids

A

composed of multiple sets of chr from one species

47
Q

autotetraploids

A

arise by accidentally doubling 2n to 3n by colchicine, used for commercial crops FERTILE

48
Q

allopolyploids

A

composed of multiple chr sets from 2 highly related species

49
Q

karpenchenko

A

got viable cabbage/raddish and fused, but bc they had different chr they were sterile (gametes are n1 + n2)

50
Q

how can sterile sometimes by fertile (by chance)

A

spontaneous doubling of chr to even number

51
Q

triploids

A

arise in nature by crossing 2n and 4n (usually sterile)

52
Q

aneupliod

A

cell that lost or gained particular chr

53
Q

monosomic

A

lost one of two homologs 2n -1

54
Q

trisomic

A

gained extra chr so there are three homologs 2n +1

55
Q

nullisomic

A

lost both membeers of chr pair 2n

56
Q

double trisomic

A

2n+1+1

57
Q

disomic

A

n+1

58
Q

aneuploidy caused by __

A

nondisjunction

59
Q

disjunction

A

normal separation of chr during nuclear division

60
Q

nondisjunction

A

failure in normal separation

genetics (13 decks)

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