UNIT 6: Mutations Flashcards
(109 cards)
1
Q
Mutation/Polymorphism:
<1% of population
A
Mutation
2
Q
Mutation/Polymorphism:
Carrier
A
Mutation
3
Q
Mutation/Polymorphism:
Diseased
A
Mutation
4
Q
Mutation/Polymorphism:
> 1% of population
A
Polymorphism
5
Q
Mutation/Polymorphism:
Not affected
A
Polymorphism
6
Q
Mutation/Polymorphism:
> 90% Single Nucleotide Polymorphism (SNP)
A
Polymorphism
7
Q
Genetic polymorphism has at least __ alternate DNA sequences
A
2
8
Q
T/F: Genetic polymorphism is generally not associated with disease
A
T
9
Q
Genetic polymorphism may not be associated with disease, but may result to:
Result in ___
A
Phenotype
10
Q
Genetic polymorphism may not be associated with disease, but may result to:
Be a risk of ___
A
Disease
11
Q
Genetic polymorphism may not be associated with disease, but may result to:
___ the function or expression level of a protein
A
Alter
12
Q
A ___ is any heritable change in the amount or structure of genetic material
A
Genetic mutation
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
14
Q
Mutation/Polymorphism:
Population attribute
A
Polymorphism
15
Q
Mutation/Polymorphism:
Presence of more than one allele at a particular locus in a particular population
A
Polymorphism
16
Q
Single base pair change in the nucleotide sequence
A
Single nucleotide polymorphism
17
Q
Mutation/Polymorphism:
Human gender, and ABO blood group
A
Polymorphism
18
Q
Mutation/Polymorphism:
Natural selection does not affect alleles
A
Polymorphism
19
Q
Mutation/Polymorphism:
Physical event
A
Mutation
20
Q
Mutation/Polymorphism:
Permanent alteration of a nucleotide sequence of a gene
A
Mutation
21
Q
Mutation/Polymorphism:
Sickle cell anemia, hemophilia, cystic fibrosis, Klinefelter syndrome, & turner syndrome
A
Mutation
22
Q
Mutation/Polymorphism:
Natural selection selects the mutations that are best suited for the environment
A
Mutation
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
24
Q
___ have the largest populations and lowest mutation rates
A
Microbes
25
Mutation based on origin:
Occurs in absence of known mutagen
Spontaneous
26
Mutation based on origin:
Statistically random, unpredictable events
Spontaneous
27
Mutation based on origin:
Occurs in presence of known mutagen
Known
28
An agent that changes genetic material
Mutagen
29
Type of mutagen based on effect:
Congenital malformations
Teratogens
30
Type of mutagen based on effect:
Tumor formation, cancer-causing agents
Carcinogens
31
Type of mutagen based on effect:
Chromosomal abnormalities
Clastogens
32
Type of mutagen based on effect:
DNA damage
Non-specific
33
Type of mutagen based on effect:
Thalidomide
Teratogens
34
Type of mutagen (physical/ chemical/ biological):
Ionizing radiations
Physical
35
Type of mutagen (physical/ chemical/ biological):
Non-ionizing radiations
Physical
36
Type of mutagen (physical/ chemical/ biological):
Heat
Physical
37
Type of mutagen (physical/ chemical/ biological):
Alkylating agents
Chemical
38
Type of mutagen (physical/ chemical/ biological):
Deaminating agents
Chemical
39
Type of mutagen (physical/ chemical/ biological):
Intercalating agents
Chemical
40
Type of mutagen (physical/ chemical/ biological):
Virus
Bacteria
Transposons
Biological
41
Mutation based on cell type:
Occurs in nonreproductive cells
Somatic
42
Mutation based on cell type:
Can yield a genotypic mixture (mosaic) of normal and mutant tissue
Somatic
43
Mutation based on cell type:
Most common cancers
Somatic
44
Mutation based on cell type:
Occurs in reproductive cells
Germ line
45
Mutation based on cell type:
Inherited
Germ line
46
Mutation based on expression:
Expressed only under restrictive condition
Conditional
47
Mutation based on expression:
Effect of mutation can be turned on or off by experimenter
Conditional
48
Mutation based on expression:
Expressed under permissive conditions as well as restrictive conditions
Unconditional
49
Mutation based on effect on function:
Eliminates normal function
Loss of function / amorphic
50
Mutation based on effect on function:
Results in complete gene inactivation or in a completely nonfunctional gene product
Loss of function / amorphic
51
Mutation based on effect on function:
Deletion of all or part of a gene
Loss of function / amorphic
52
Mutation based on effect on function:
Amino acid replacement that inactivates the protein
Loss of function / amorphic
53
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
Hypomorphic / leaky mutation
54
Mutation based on effect on function:
Individuals may have enough enzyme activity to produce a quasi-normal phenotype
Hypomorphic / leaky mutation
55
Mutation based on effect on function:
Increases normal function
Gain of function / hypermorphic
56
Mutation based on effect on function:
Produces a greater-than-normal level of gene expression
Gain of function / hypermorphic
57
In hypermorphic mutation, mutation changes the regulation of the gene so that the gene product is ___
overproduced
58
Mutation based on effect on function:
Expressed at incorrect time or in inappropriate cell types
Ectopic expression / neomorph
59
Mutation based on effect on function:
Qualitatively alters the action of a gene
Ectopic expression / neomorph
60
Mutation based on effect on function:
Mutant gene product interferes with normal gene product
Antimorphic
61
Recessive mutations are usually ___ of function
Loss
62
T/F: Dominant mutations can only be caused by a gain of function
F (can be loss or gain)
63
Mutation based on molecular change:
Most common type
Substitution
64
Mutation based on molecular change:
Replacement of a single nucleotide by another
Substitution
65
Replacement by the same type of nucleotide
Transition
66
Substitution of a pyrimidine by a purine or vice versa
Transversion
67
Transition/Transversion:
More likely to cause disease
Transversion
68
T/F: only Adenine to Guanine and Cytosine to Thymine are transitions, everything else are transversion
T
69
Transition/Transversion:
Substitution of purine from another purine base or pyrimidine from another pyrimidine
Transition
70
Transition/Transversion:
Most common type of point mutation
Transition
71
Transition/Transversion:
One possible
Transition
72
Transition/Transversion:
Less likely to cause amino acid sequences; remains as a silent mutation
Transition
73
Transition/Transversion:
Interchanges of bases within single ring structures or within double ring structures can be observed
Transition
74
Transition/Transversion:
Substitution of a purine from a pyrimidine or pyrimidine from a purine
Transversion
75
Transition/Transversion:
Less common
Transversion
76
Transition/Transversion:
More likely to cause amino acid sequence changes; has a pronounced effect on the resulting protein
Transversion
77
Transition/Transversion:
Interchange occurs in a single ring structure with double ring structure or double ring structure with a single ring structure
Transversion
78
Mutation based on molecular change:
Involves the loss of one or more nucleotides
Deletion
79
Mutation based on molecular change:
Involves the addition of one or more nucleotides into a gene
Insertion
80
Deletion pattern:
Deletion of amino acids that may affect protein function or stability
Multiple of 3 (codon)
81
Deletion pattern:
Likely to result to frameshift mutation
Not multiple of 3
82
Deletion pattern:
May arise through unequal crossover between repeat sequences
Large deletion
83
Deletion pattern:
Either partial gene deletion or whole gene deletion
Large deletion
84
Three-base deletion in the common ___ ___ allele results in synthesis of a protein that lacks amino acid 508 (phenylalanine)
Cystic fibrosis (CF)
85
Mutation based on molecular change:
Expansion of trinucleotide repeat
Insertion
86
Insertion pattern:
Amplification of a sequence of three nucleotides, which prevents normal expression of the gene
Expansion of trinucleotide repeat
87
Insertion patterns:
Involves dynamic mutations wherein the repeat sequence becomes more unstable as it expands in size
Expansion of trinucleotide repeat
88
Possible causes of expansion of trinucleotide repeat
1. Unequal sister chromatid exchange on nonreplicating DNA
2. Slipped-strand mispairing and polymerase slippage in replicating DNA
89
Identify the repeating insertion pattern:
Fragile X syndrome (FMR1 gene)
CGG
90
Identify the repeating insertion pattern:
Huntington disease (HTT gene)
CAG
91
Identify the repeating insertion pattern:
Myotonic dystrophy (DMPK gene)
CTG
92
Identify the repeating insertion pattern:
Friedrich ataxia (FXN1 gene)
GAA
93
Mutation based on effect on protein products:
Silent mutations
Synonymous mutations
94
Mutation based on effect on protein products:
Missense mutations
Nonsense mutations
Frameshift mutation
Nonsynonymous mutations
95
Mutation based on effect on protein products:
Mutation does not alter the polypeptide product of the gene
Synonymous mutations
96
Mutation based on effect on protein products:
Base substitution occurs but does not change the amino acid sequence
Silent mutations
97
Mutation based on effect on protein products:
Mutation leads to an alteration in the encoded polypeptide
Nonsynonymous mutations
98
Mutation based on effect on protein products:
Likely to result in abnormal function, which is usually associated with disease, or lethality
Nonsynonymous mutations
99
Mutation based on effect on protein products:
Base-pair substitutions that produce a change in a single amino acid
Missense mutations
100
Mutation based on effect on protein products:
Change in amino acid may affect the protein structure
Missense mutations
101
Mutation based on effect on protein products:
Sickle cell anemia: affects the beta-globin chain of hemoglobin
Missense mutations
102
Mutation based on effect on protein products:
Base-pair substitutions that produce a stop codon in the mRNA
Nonsense mutations
103
Mutation based on effect on protein products:
Result in a premature termination of the polypeptide chain
Nonsense mutations
104
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
Nonsense mutations
105
Mutation based on effect on protein products:
Beta-0 thalassemia: affects the beta-globin chain of hemoglobin
Nonsense mutations
106
Mutation based on effect on protein products:
When a mutation involves the insertion or deletion of nucleotides that are not a multiple of three
Frameshift mutation
107
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
Frameshift mutation
108
Mutation based on effect on protein products:
Single-base deletion at the ABO locus, leading the a frameshift mutation responsible for the O allele
Frameshift mutation
109
Mutation based on effect on protein products:
Tay-Sachs disease: four-base insertion in the hexasominidase A gene
Frameshift mutation
