module 10 Flashcards

1
Q

mutation

A

heritable change in the genetic material

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2
Q

homologous recombination

A

the exchange of identical or similar DNA segments between homologous chromosomes

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3
Q

point mutation

A

a change in a single base pair

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4
Q

base substitution transition

A

a change of a C/T–>T/C or A/G–>G/A

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5
Q

base substitution transversion

A

a change of a C/T–>A/G or A/G–>C/T

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6
Q

silent mutations

A

base substitutions that do not alter the amino acid sequence of the polypeptide

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7
Q

missense mutation

A

base substitutions in which an amino acid change does occur

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8
Q

nonsense mutation

A

base substitutions in which causes an early stop codon occurs

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9
Q

frameshift mutation

A

an addition or subtraction of nucleotides that isn’t in a group of three

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10
Q

forward mutation

A

changes the wild-type genotype into some new variation

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11
Q

reverse mutation

A

changes a mutant allele back to the wild-type

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12
Q

suppressor mutation

A

reverse the phenotypic effects of another mutation

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13
Q

chromosomal breakpoint

A

site of breaking and rejoining

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14
Q

position effect

A

when a gene is left intact but its expression may be altered because of its new location

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15
Q

germ-line mutations

A

those that occur directly in a sperm or egg cell

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16
Q

somatic mutations

A

those that occur directly in a body cell that is not apart of the germ-line

17
Q

spontaneous mutations

A

result from abnormalities in cellular/biological processes

18
Q

induced mutations

A

caused by environmental agents

19
Q

depurination

A

the removal of a G or A from the dna (apurinic site)

20
Q

deamination

A

removal of an amino group from the cytosine base

21
Q

tautomeric shift

A

a temporary change in base structure

22
Q

reactive oxygen species

A

Hydrogen peroxide, superoxide, hydroxyl radical

23
Q

oxidative stress

A

an imbalance between the production of ROS and an organism’s ability to break them down

24
Q

oxidative DNA damage

A

ROS over-accumulation causes a transversion mutation

25
trinucleotide repeat expansion
when the length of a trinucleotide repeat has increased above a certain critical size
26
mutagens
agents that alter the structure of DNA and thereby cause mutations
27
base modifiers
covalently modify base structure, disrupt pairing by alkylating bases
28
intercalating agents
directly interfere with replication process
29
base analogues
incorporate into DNA and disrupt structure, tautomerize at a high rate
30
mutation rate
the likelihood that a gene will be altered by a new mutation
31
mutation frequency
the number of mutant genes divided by the total number of genes in a population
32
ames test
evaluates mutagenicity
33
Nucleotide excision repair (NER)
can repair thymine dimers, missing bases, and some types of crosslinks
34
NER mechanism
1. uvra,b,c,d recognize and remove a short segment of damaged DNA 2. DNA polymerase and ligase finish the repair job
35
translesion synthesis
specialized enzymes assist DNA pol to go over aberrant structures in the templet strand
36
gene conversion
when one of the alleles is converted to the other