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CTGN 2nd Shift > UNIT 6: Mutations > Flashcards

UNIT 6: Mutations Flashcards

1
Q

Mutation/Polymorphism:

<1% of population

A

Mutation

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2
Q

Mutation/Polymorphism:

Carrier

A

Mutation

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3
Q

Mutation/Polymorphism:

Diseased

A

Mutation

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4
Q

Mutation/Polymorphism:

> 1% of population

A

Polymorphism

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5
Q

Mutation/Polymorphism:

Not affected

A

Polymorphism

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6
Q

Mutation/Polymorphism:

> 90% Single Nucleotide Polymorphism (SNP)

A

Polymorphism

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7
Q

Genetic polymorphism has at least __ alternate DNA sequences

A

2

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8
Q

T/F: Genetic polymorphism is generally not associated with disease

A

T

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9
Q

Genetic polymorphism may not be associated with disease, but may result to:

Result in ___

A

Phenotype

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10
Q

Genetic polymorphism may not be associated with disease, but may result to:

Be a risk of ___

A

Disease

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11
Q

Genetic polymorphism may not be associated with disease, but may result to:

___ the function or expression level of a protein

A

Alter

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12
Q

A ___ is any heritable change in the amount or structure of genetic material

A

Genetic mutation

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13
Q

Classification of mutations can be based on:

A

Origin
Cell type
Expression
Effect on function
Molecular change and its effects on protein products

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14
Q

Mutation/Polymorphism:

Population attribute

A

Polymorphism

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15
Q

Mutation/Polymorphism:

Presence of more than one allele at a particular locus in a particular population

A

Polymorphism

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16
Q

Single base pair change in the nucleotide sequence

A

Single nucleotide polymorphism

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17
Q

Mutation/Polymorphism:

Human gender, and ABO blood group

A

Polymorphism

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18
Q

Mutation/Polymorphism:

Natural selection does not affect alleles

A

Polymorphism

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19
Q

Mutation/Polymorphism:

Physical event

A

Mutation

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20
Q

Mutation/Polymorphism:

Permanent alteration of a nucleotide sequence of a gene

A

Mutation

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21
Q

Mutation/Polymorphism:

Sickle cell anemia, hemophilia, cystic fibrosis, Klinefelter syndrome, & turner syndrome

A

Mutation

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22
Q

Mutation/Polymorphism:

Natural selection selects the mutations that are best suited for the environment

A

Mutation

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23
Q

The rate at which new mutations appear in a genome is ___ proportional to the so-called effective population size of the species

A

Inversely

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24
Q

___ have the largest populations and lowest mutation rates

A

Microbes

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25
Q

Mutation based on origin:

Occurs in absence of known mutagen

A

Spontaneous

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26
Q

Mutation based on origin:

Statistically random, unpredictable events

A

Spontaneous

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27
Q

Mutation based on origin:

Occurs in presence of known mutagen

A

Known

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28
Q

An agent that changes genetic material

A

Mutagen

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29
Q

Type of mutagen based on effect:

Congenital malformations

A

Teratogens

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30
Q

Type of mutagen based on effect:

Tumor formation, cancer-causing agents

A

Carcinogens

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31
Q

Type of mutagen based on effect:

Chromosomal abnormalities

A

Clastogens

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32
Q

Type of mutagen based on effect:

DNA damage

A

Non-specific

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33
Q

Type of mutagen based on effect:

Thalidomide

A

Teratogens

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34
Q

Type of mutagen (physical/ chemical/ biological):

Ionizing radiations

A

Physical

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35
Q

Type of mutagen (physical/ chemical/ biological):

Non-ionizing radiations

A

Physical

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36
Q

Type of mutagen (physical/ chemical/ biological):

Heat

A

Physical

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37
Q

Type of mutagen (physical/ chemical/ biological):

Alkylating agents

A

Chemical

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38
Q

Type of mutagen (physical/ chemical/ biological):

Deaminating agents

A

Chemical

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39
Q

Type of mutagen (physical/ chemical/ biological):

Intercalating agents

A

Chemical

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40
Q

Type of mutagen (physical/ chemical/ biological):

Virus
Bacteria
Transposons

A

Biological

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41
Q

Mutation based on cell type:

Occurs in nonreproductive cells

A

Somatic

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42
Q

Mutation based on cell type:

Can yield a genotypic mixture (mosaic) of normal and mutant tissue

A

Somatic

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43
Q

Mutation based on cell type:

Most common cancers

A

Somatic

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44
Q

Mutation based on cell type:

Occurs in reproductive cells

A

Germ line

45
Q

Mutation based on cell type:

Inherited

A

Germ line

46
Q

Mutation based on expression:

Expressed only under restrictive condition

A

Conditional

47
Q

Mutation based on expression:

Effect of mutation can be turned on or off by experimenter

A

Conditional

48
Q

Mutation based on expression:

Expressed under permissive conditions as well as restrictive conditions

A

Unconditional

49
Q

Mutation based on effect on function:

Eliminates normal function

A

Loss of function / amorphic

50
Q

Mutation based on effect on function:

Results in complete gene inactivation or in a completely nonfunctional gene product

A

Loss of function / amorphic

51
Q

Mutation based on effect on function:

Deletion of all or part of a gene

A

Loss of function / amorphic

52
Q

Mutation based on effect on function:

Amino acid replacement that inactivates the protein

A

Loss of function / amorphic

53
Q

Mutation based on effect on function:

Reduces normal function, but does not eliminate, the level of expression of a gene or the activity of the gene product

A

Hypomorphic / leaky mutation

54
Q

Mutation based on effect on function:

Individuals may have enough enzyme activity to produce a quasi-normal phenotype

A

Hypomorphic / leaky mutation

55
Q

Mutation based on effect on function:

Increases normal function

A

Gain of function / hypermorphic

56
Q

Mutation based on effect on function:

Produces a greater-than-normal level of gene expression

A

Gain of function / hypermorphic

57
Q

In hypermorphic mutation, mutation changes the regulation of the gene so that the gene product is ___

A

overproduced

58
Q

Mutation based on effect on function:

Expressed at incorrect time or in inappropriate cell types

A

Ectopic expression / neomorph

59
Q

Mutation based on effect on function:

Qualitatively alters the action of a gene

A

Ectopic expression / neomorph

60
Q

Mutation based on effect on function:

Mutant gene product interferes with normal gene product

A

Antimorphic

61
Q

Recessive mutations are usually ___ of function

A

Loss

62
Q

T/F: Dominant mutations can only be caused by a gain of function

A

F (can be loss or gain)

63
Q

Mutation based on molecular change:

Most common type

A

Substitution

64
Q

Mutation based on molecular change:

Replacement of a single nucleotide by another

A

Substitution

65
Q

Replacement by the same type of nucleotide

A

Transition

66
Q

Substitution of a pyrimidine by a purine or vice versa

A

Transversion

67
Q

Transition/Transversion:

More likely to cause disease

A

Transversion

68
Q

T/F: only Adenine to Guanine and Cytosine to Thymine are transitions, everything else are transversion

A

T

69
Q

Transition/Transversion:

Substitution of purine from another purine base or pyrimidine from another pyrimidine

A

Transition

70
Q

Transition/Transversion:

Most common type of point mutation

A

Transition

71
Q

Transition/Transversion:

One possible

A

Transition

72
Q

Transition/Transversion:

Less likely to cause amino acid sequences; remains as a silent mutation

A

Transition

73
Q

Transition/Transversion:

Interchanges of bases within single ring structures or within double ring structures can be observed

A

Transition

74
Q

Transition/Transversion:

Substitution of a purine from a pyrimidine or pyrimidine from a purine

A

Transversion

75
Q

Transition/Transversion:

Less common

A

Transversion

76
Q

Transition/Transversion:

More likely to cause amino acid sequence changes; has a pronounced effect on the resulting protein

A

Transversion

77
Q

Transition/Transversion:

Interchange occurs in a single ring structure with double ring structure or double ring structure with a single ring structure

A

Transversion

78
Q

Mutation based on molecular change:

Involves the loss of one or more nucleotides

A

Deletion

79
Q

Mutation based on molecular change:

Involves the addition of one or more nucleotides into a gene

A

Insertion

80
Q

Deletion pattern:

Deletion of amino acids that may affect protein function or stability

A

Multiple of 3 (codon)

81
Q

Deletion pattern:

Likely to result to frameshift mutation

A

Not multiple of 3

82
Q

Deletion pattern:

May arise through unequal crossover between repeat sequences

A

Large deletion

83
Q

Deletion pattern:

Either partial gene deletion or whole gene deletion

A

Large deletion

84
Q

Three-base deletion in the common ___ ___ allele results in synthesis of a protein that lacks amino acid 508 (phenylalanine)

A

Cystic fibrosis (CF)

85
Q

Mutation based on molecular change:

Expansion of trinucleotide repeat

A

Insertion

86
Q

Insertion pattern:

Amplification of a sequence of three nucleotides, which prevents normal expression of the gene

A

Expansion of trinucleotide repeat

87
Q

Insertion patterns:

Involves dynamic mutations wherein the repeat sequence becomes more unstable as it expands in size

A

Expansion of trinucleotide repeat

88
Q

Possible causes of expansion of trinucleotide repeat

A
  1. Unequal sister chromatid exchange on nonreplicating DNA
  2. Slipped-strand mispairing and polymerase slippage in replicating DNA
89
Q

Identify the repeating insertion pattern:

Fragile X syndrome (FMR1 gene)

A

CGG

90
Q

Identify the repeating insertion pattern:

Huntington disease (HTT gene)

A

CAG

91
Q

Identify the repeating insertion pattern:

Myotonic dystrophy (DMPK gene)

A

CTG

92
Q

Identify the repeating insertion pattern:

Friedrich ataxia (FXN1 gene)

A

GAA

93
Q

Mutation based on effect on protein products:

Silent mutations

A

Synonymous mutations

94
Q

Mutation based on effect on protein products:

Missense mutations
Nonsense mutations
Frameshift mutation

A

Nonsynonymous mutations

95
Q

Mutation based on effect on protein products:

Mutation does not alter the polypeptide product of the gene

A

Synonymous mutations

96
Q

Mutation based on effect on protein products:

Base substitution occurs but does not change the amino acid sequence

A

Silent mutations

97
Q

Mutation based on effect on protein products:

Mutation leads to an alteration in the encoded polypeptide

A

Nonsynonymous mutations

98
Q

Mutation based on effect on protein products:

Likely to result in abnormal function, which is usually associated with disease, or lethality

A

Nonsynonymous mutations

99
Q

Mutation based on effect on protein products:

Base-pair substitutions that produce a change in a single amino acid

A

Missense mutations

100
Q

Mutation based on effect on protein products:

Change in amino acid may affect the protein structure

A

Missense mutations

101
Q

Mutation based on effect on protein products:

Sickle cell anemia: affects the beta-globin chain of hemoglobin

A

Missense mutations

102
Q

Mutation based on effect on protein products:

Base-pair substitutions that produce a stop codon in the mRNA

A

Nonsense mutations

103
Q

Mutation based on effect on protein products:

Result in a premature termination of the polypeptide chain

A

Nonsense mutations

104
Q

Mutation based on effect on protein products:

Unlikely to retain normal biological activity, especially when there is a loss of an important functional domain(s) of the protein

A

Nonsense mutations

105
Q

Mutation based on effect on protein products:

Beta-0 thalassemia: affects the beta-globin chain of hemoglobin

A

Nonsense mutations

106
Q

Mutation based on effect on protein products:

When a mutation involves the insertion or deletion of nucleotides that are not a multiple of three

A

Frameshift mutation

107
Q

Mutation based on effect on protein products:

Resulting amino acid sequence bears no resemblance to the normal sequence and may have an adverse effect on its function

A

Frameshift mutation

108
Q

Mutation based on effect on protein products:

Single-base deletion at the ABO locus, leading the a frameshift mutation responsible for the O allele

A

Frameshift mutation

109
Q

Mutation based on effect on protein products:

Tay-Sachs disease: four-base insertion in the hexasominidase A gene

A

Frameshift mutation

CTGN 2nd Shift (5 decks)

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