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genetics > ch 19 gene mutation, dna repair, and recombination > Flashcards

ch 19 gene mutation, dna repair, and recombination Flashcards

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Biology 101 flashcards
1
Q

mutation

A

a permanent change in the genetic material that can be passed from cell to cell or if it occurs in reproductive cells, from parent to offspring

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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 within dna

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4
Q

base substitution

A

a point mutation in which one base is substituted for another

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5
Q

transition

A

a point mutation involving a change of a pyrimidine to another pyrimidine or a purine to another purine

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6
Q

transversion

A

a point mutation in which a purine is interchanged with pyrimidine, or vice versa

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7
Q

silent mutation

A

a mutation that does not alter the amino acid sequence of the encoded polypeptide even though the base sequence has changed

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8
Q

missense mutation

A

a base substitution that leads to a change in the amino acid sequence of the encoded polypeptide

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9
Q

nonsense mutation

A

a mutation that involves a change from a normal codon to a stop codon

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10
Q

frameshift mutation

A

a mutation that involves the addition or deletion of a number of nucleotide not divisible by 3, which shifts the reading frame of the codons downstream from the mutation

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11
Q

neutral mutation

A

a mutation that has no detectable effect on the survival of the organism

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12
Q

up promoter mutation

A

a mutation in a promoter that increases the rate of transcription

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13
Q

down promoter mutation

A

a mutation in a promoter that decreases the rate of transcription

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14
Q

wild type

A

a relatively prevalent genotype in a natural population

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15
Q

mutant allele

A

an allele that has been created by altering a wild-type allele by mutation

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16
Q

reversion

A

(also called a reverse mutation) a mutation that changes a mutant allele back to a wild-type allele

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17
Q

deleterious mutation

A

a mutation that is detrimental with regard to its effect on phenotype

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18
Q

lethal mutation

A

a mutation that produces an allele that results in the death of a cell or an organism

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19
Q

beneficial mutation

A

a mutation that enhances the survival or reproductive success of an organism

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20
Q

conditional mutant

A

a mutant whose phenotype depends on the environmental conditions, such as a temperature-sensitive mutant

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21
Q

suppressor

A

(also called suppressor mutation) a mutation at a second site that suppresses the phenotypic effects of another mutation

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22
Q

intragenic supressor

A

a suppressor mutation that is within the same gene as the first mutation it suppresses

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23
Q

intergenic suppressor

A

a suppressor mutation that occurs in a different gene than the gene that contains the first mutation

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24
Q

breakpoint

A

a region where two chromosomes pieces break apart and rejoin with other chromosome pieces

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25
Q

position effect

A

a change in phenotype that occurs when the location of a gene changes from one chromosomal site to a different one

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26
Q

germ line

A

refers to cells that give rise to gametes (eggs or sperm)

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27
Q

germ-line mutation

A

a mutation in a cell of the germ line

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28
Q

somatic mutation

A

a mutation in a somatic cell

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29
Q

genetic mosaic

A

an individual that has somatic regions that differ genotypically from one another

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30
Q

replica plating

A

a technique in which replicas of bacterial colonies are transferred to new growth plates

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31
Q

random mutation theory

A

according to this theory, mutations are random events–they can occur in any gene and do not require exposure of an organism to an environmental condition that causes specific types of mutations

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32
Q

hot spots

A

regions within a gene that are more likely to mutate than others

33
Q

spontaneous mutation

A

a change in dna structure that results from natural biological or chemical processes

34
Q

induced mutation

A

a change in dna structure caused by an environmental agent

35
Q

depurination

A

the removal of a purine base from dna

36
Q

apurinic site

A

a site in dna that is missing a purine base

37
Q

deamination

A

the removal of an amino group from a molecule; for example, the removal of an amino group from cytosine produces uracil

38
Q

tautoemeric shift

A

a temporary change in chemical structure, such as an alteration between keto and enol forms of the bases that are found in dna

39
Q

tautomers

A

chemically similar forms of certain small molecules, such as bases, which can spontaneously interconvert

40
Q

reactive oxygen species (ROS)

A

products of oxygen metabolism that are produced in all aerobic organism and that can, if they accumulate, damage cellular molecules, including dna, proteins, and lipids

41
Q

oxidative stress

A

an imbalance between the production of reactive oxygen species and an organism’s ability to break them down

42
Q

oxidative dna damage

A

changes in dna structure that are caused by reactive oxygen species

43
Q

trinucleotide repeat expansion (TNRE)

A

a type of mutation that involves an increase in the number of tandemly repeated trinucleotide sequences

44
Q

anticipation

A

the phenomenon in which the severity of an inherited disease tends to get worse in subsequent generations

45
Q

mutagen

A

an agent that can be altered the structure of dna, causing a mutation

46
Q

nitrous acid

A

a type of chemical mutagen that deaminates bases, replacing amino groups with keto groups

47
Q

nitrogen mustard

A

an alkylating agent that can cause mutations in dna

48
Q

ethyl methanesulfonate (EMS)

A

a type of chemical mutagen that alkylates bases (ie attaches methyl or ethyl groups)

49
Q

acridine dye

A

a type of chemical mutagen that intercalates between adjacent base pairs in dna and causes frameshift mutations

50
Q

proflavin

A

an acridine dye

51
Q

5-bromouracil (5BU)

A

a base analog that acts as a chemical mutagen

52
Q

2-aminopurine

A

a base analog that acts as a chemical mutagen

53
Q

thymine dimer

A

two adjacent thymine bases in a dna strand that have become covalently linked

54
Q

mutation rate

A

the likelihood that a gene will be altered by a new mutation

55
Q

mutation frequency

A

the number of mutant genes divided by the total number of copies of a gene within a population

56
Q

ames test

A

a test using strains of a bacterium, salmonella typhimurium, to determine if a substance is a mutagen

57
Q

photolyase

A

an enzyme found in bacteria, fungi, most plants, and some animals that can recognize and split thymine dimers, which returns the dna to its original condition

58
Q

photoreactivation

A

a type of dna repair mechanism of thymine dimers that involves photolyase and requires light

59
Q

alkyltransferase

A

an enzyme that can remove methyl or ethyl groups from guanine bases

60
Q

base excision repair (BER)

A

a type of dna repair in which a modified base is removed from a dna strand; following base removal, a short region of the dna strand is removed and then resynthesized using the complementary strand as a template

61
Q

dna n-glycosylase

A

an enzyme that can recognize an abnormal base and cleave the bond between it and the sugar in the dna backbone

62
Q

ap endonuclease

A

a dna repair enzyme that recognizes a dna region that is missing a base and makes a cut in the dna backbone near the site

63
Q

nucleotide excision repair (NER)

A

a dna repair system in which several nucleotides in the damaged strand are removed from the dna and the undamaged strand is used as a template to resynthesize a normal strand

64
Q

base pair mismatch

A

a dna abnormality in which two bases opposite of each other in a double helix do not conform to the AT/GC rule; for example is A were opposite of C, that would be a mismatch

65
Q

mismatch repair system

A

a dna repair system that recognizes mismatches and repairs the newly made daughter strand that contains the incorrect base

66
Q

homologous recombination repair (HRR)

A

(also called homology-directed repair) mechanism for repairing double-strand breaks that occurs when the dna strands from a sister chromatid are used to repair a lesion in the other sister chromatid

67
Q

nonhomologous end joining (NHEJ)

A

a repair mechanism for double strand breaks in which the ends of the dna are pieced back together

68
Q

translesion synthesis (TLS)

A

the synthesis of dna over a template strand that harbors some type of dna damage; occurs via translesion-replicating polymerases

69
Q

error-prone replication

A

a form of dna replication carried out by translesion-replicating polymerases that results in a high rate of mutation

70
Q

sister chromatid exchange (SCE)

A

the phenomenon in which crossing over occurs between sister chromatids, which thereby exchange identical genetic material

71
Q

genetic recombination

A
  1. the process in which chromosomes are broken and then rejoined to form a novel genetic combination
  2. the process in which alleles are assorted and passed to offspring in combinations that are different from those found in the parents
72
Q

gene conversion

A

the phenomenon in which one allele is converted to the allele on the homologous chromosome due to recombination or dna repair

73
Q

holliday model

A

a model to explain the molecular mechanism of homologous recombination

74
Q

holliday junction

A

a site where an unresolved crossover has occurred between two homologous chromosomes

75
Q

branch migration

A

the lateral movement of a holliday junction

76
Q

heteroduplex

A

a region of double-stranded dna that contains one or more base mismatches

77
Q

resolution

A
  1. the last two steps of homologous recombination, in which the entangled dna strands become resolves into two separate chromosomes
78
Q

double-strand break model

A

a model for homologous recombination in which the event that initiates recombination is a double-strand break in one of two homologous chromatids

79
Q

dna gap repair synthesis

A

the synthesis of dna in a region where part of a dna strand has been previously removed, usually by an dna repair enzyme or by an enzyme involved in homologous recombination

genetics (20 decks)

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