chapter 15 and 17

Question 1

mutation

Answer 1

variants arise from heritable genetic changes

Question 1

spontaneous mutation

Answer 1

error in DNA synthesis (10^-8)

Question 2

induced mutation

Answer 2

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

Question 3

forward mutation

Answer 3

change from wild type (more likely than reverse)

Question 4

reverse mutation

Answer 4

change from mutant back to WT

Question 5

mutation rate

Answer 5

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

Question 6

mutation frequency

Answer 6

number of mutant individuals per total number of organisms in population

Question 7

somatic mutations

Answer 7

occur in nonreproductive cells, NOT inheritable

Question 8

germinal mutations

Answer 8

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

Question 9

morphological mutations

Answer 9

phenotypic affect
cause change in form, used to study metazoans

Question 10

biochemical/metabolic mutations

Answer 10

phenotypic affects
used to study microbes that aren’t common

Question 11

2 types of biochemical/metabolic mutations

Answer 11

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

Question 12

lethal mutation

Answer 12

you dead fr

Question 13

conditional mutation

Answer 13

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

Question 14

DNA Level

Answer 14

molecular defect, insertions and deletions

Question 15

Protein Level

Answer 15

missense and nonsense

Question 16

regulatory site mutation

Answer 16

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

Question 17

splice site mutation

Answer 17

DNA mutation that affect splice sites

Question 18

Luria and Delbruck Experiment (1943)

Answer 18

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

Question 19

Luria and Delbruck determined

Answer 19

determined that mutations are random!

Question 20

Luria and Delbruck issue

Answer 20

they grew cells in T1 which is unreliable

Question 21

lederbergs (1952)

Answer 21

used master and replica plate to demonstrate that utations are random

Question 22

mutagens

Answer 22

radiation, chemicals, error prone conditions

used to increase mutation rate

Question 23

Selection

Answer 23

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

only MARKED cells survive

Question 24

selection step by step

Answer 24

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

Question 25

screen

Answer 25

both WT and mutants can grow but can be PHENOTYPICALLY distinguished

Question 26

screen steps

Answer 26

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

Question 27

large changes in chromosome structure affect...

Answer 27

gene position, copy number, and integrity

Question 28

methods to detect chromosomal rearrangement

Answer 28

cytologically and genetic analysis

Question 29

cytologically

Answer 29

viewing structures under microscope

Question 30

genetic analysis

Answer 30

heritable phenotypes resulting from structural changes

Question 31

how rearrangements occur

Answer 31

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

Question 32

deletion (cytological consequence)

Answer 32

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

Question 33

deletion (genetic consequences, homozygous deletions)

Answer 33

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

Question 34

deletion (genetic consequences, heterozygous deletions 3 EFFECTS)

Answer 34

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

Question 35

adjacent duplication

Answer 35

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

Question 36

insertional dupes

Answer 36

located elsewhere in genome

Question 37

duplication cytological consequences

Answer 37

looping out unpaired region in meisos when homolog pairs synapse

Question 38

duplication genetic consequences

Answer 38

phenotypical abnormalities

Question 39

inversion (cytological consequences)

Answer 39

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

Question 40

inversion genetic consequenes

Answer 40

reduction in recombo frq, partial sterility

Question 41

reciprocal translocation

Answer 41

when non homolog chr exchange parts

Question 42

euploidy

Answer 42

organisms with whole number multiples of n

Question 43

paraploid

Answer 43

euploid with more than 2 sets (more than diploid)

Question 44

haploid

Answer 44

number of chr in one gamete (n)

Question 45

polyploid

Answer 45

multiple sets of chromosomes (common in plants)

Question 46

autopolyploids

Answer 46

composed of multiple sets of chr from one species

Question 47

autotetraploids

Answer 47

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

Question 48

allopolyploids

Answer 48

composed of multiple chr sets from 2 highly related species

Question 49

karpenchenko

Answer 49

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

Question 50

how can sterile sometimes by fertile (by chance)

Answer 50

spontaneous doubling of chr to even number

Question 51

triploids

Answer 51

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

Question 52

aneupliod

Answer 52

cell that lost or gained particular chr

Question 53

monosomic

Answer 53

lost one of two homologs 2n -1

Question 54

trisomic

Answer 54

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

Question 55

nullisomic

Answer 55

lost both membeers of chr pair 2n

Question 56

double trisomic

Answer 56

2n+1+1

Question 57

disomic

Answer 57

n+1

Question 58

aneuploidy caused by __

Answer 58

nondisjunction

Question 59

disjunction

Answer 59

normal separation of chr during nuclear division

Question 60

nondisjunction

Answer 60

failure in normal separation