Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MT 6315 > UNIT 6: GENETIC MUTATIONS > Flashcards

UNIT 6: GENETIC MUTATIONS Flashcards

1
Q

alteration in the chromosome structure or chromosome number

A

Chromosomal mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

<1% of population

A

Mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

> 1% of population

A

Polymorphism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

A wobble has a maximum of ___ permissible changes.

A

1/3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

At least two alternate DNA sequences; generally not assoc. with diseases

A

Genetic polymorphism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

any heritable change in the amount or structure of genetic material

A

Genetic mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Classification of mutations can be based on

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Choice of testing for genetic mutations

A

Probing using molecular tests like FISH and CGH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Test for chromosomal mutation

A

Karyotyping

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

For polymorphism, single base pair change in the nucleotide sequence is called a

A

Single nucleotide polymorphism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

For mutation, single base pair change in the nucleotide sequence is called a

A

Point mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

the DNA polymerase’s ability to correct changes in the DNA

A

Fidelity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

rapidly dividing cells are more prone to have a mutation due to

A

Adaptability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Based on Origin

A

Spontaneous / Induced

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Occurs in the absence of known mutagen
Statistically random, unpredictable events

A

Spontaneous

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Occurs in presence of known mutagen
Usage of offending agent

A

Induced

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Mutagens based on effect

A

Teratogens
Carcinogens
Clastogens
Non-specific

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

an agent that changes genetic material

A

Mutagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Teratogens result in

A

Congenital malformation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Rapid, uncontrollable proliferation of cells

A

Cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

There is a limitation on how we can control mutation and its e ffect on environmental or population genetics.

A

Drift-barrier hypothesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Teratogens affect the overall structure because they target __________ stem cells

A

pluripotent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Carcinogens result in

A

Tumor formation
Cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Clastogens result in

A

Chromosomal abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Nonspecific mutagens result in

A

DNA Damage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

3 Classifications of Mutagens

A

Physical
Chemical
Biological

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Physical mutagens

A

I Hate Nothing
- Ionizing radiation
- Heat
- Non-ionizing radiation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

are like bullets; cause double stranded breaks
ex. X-rays, Cosmic rays, Gamma rays

A

Ionizing radiations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

high-energy enough to cause thymine dimerization
ex. UV rays

A

Non-ionizing radiations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Part of atomic decay
ex. Alpha particle, Beta particle, Fast neutron, Thermal neutron

A

Heat

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Chemical mutagens

A

ADI agents
- Alkylating agents
- Deaminating agents
- Intercalating agents

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Stain that can cause cancer
would get inside the double stranded DNA

A

Ethidium Bromide (EtBr)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Biological Mutagens

A

BB agents
- Biological agents
- Biological infectious agents

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Examples of Biological agents

A

Virus
Bacteria
Transposons

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Natural elements of DNA that jump

A

Transposons

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

In cases of sunburn, what is removed from the DNA by the corrective mechanism of the body?

A

Thymine dimer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Most energetic type of UV light

A

UV C

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Hydrocarbon involved in smoking

A

Polycyclic Aromatic Hydrocarbons (PAH)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Hydrocarbons involved in smoking

A

Polycyclic Aromatic Hydrocarbons (PAH)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

In smoking, bulky DNA adducts at _______

A

guanines

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Hydrogen peroxide is reversed by

A

Vitamins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Hydrogen peroxide is reversed by

A

Vitamins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

mostly harmful to the body but useful in neutrophils

A

Oxygen free radicals

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Transformation of structure
ex. C to 5mC

A

Tautomerization

45
Q

corrects dipyrimidine photoproducts in some organisms
not present in humans

A

Photolyases

46
Q

mimics the bases
similar but not exactly the same

A

Base analogs

47
Q

chemotherapy medication used to treat various types of cancer, including leukemia, lymphoma, neuroblastoma, and Wilms tumor

A

Vincristine

48
Q

chemotherapy medication, typically used with other medications, to treat a number of types of cancer including Hodgkin’s lymphoma, non-small-cell lung cancer, bladder cancer, brain cancer, melanoma, and testicular cancer

A

Vinblastine

49
Q

Based on Cell type

A

Somatic and Germ line

50
Q

Occurs in nonreproductive cells
Can yield a genotypic mixture (mosaic) of normal and mutant tissue
Most common cancers

A

Somatic

51
Q

Occurs in reproductive cells
Inherited
Can be de novo from the parent passed to the offspring

A

Germ line

52
Q

Sperms are associated with germ line mutations because

A

they are more prone to errors in mutation

53
Q

paternal : genetic mutation
maternal: ___________

A

aneuploidy

54
Q

Examples of Germ line mutation

A

Sickle cell anemia, cystic fibrosis, and color blindness

55
Q

Based on Expression

A

Conditional
Unconditional

56
Q

Expressed only under restrictive conditions (ex. high temperature)
Effect of mutation can be turned on or off by experimenter

A

Conditional

57
Q

Expressed under permissive conditions as well as restrictive condition
Expressed all the time with no preconditions

A

Unconditional

58
Q

Based on Effect on Function

A

Loss of function (amorphic and hypomorphic)
Gain of function (hypermorphic, neomorph, antimorphic)

59
Q

Based on Effect on Function

A

Loss (amorphic and hypomorphic) and Gain (hypermorphic, neomorphic, and antimorphic)

60
Q

other name for amorphic mutation

A

knockout or null mutation

61
Q

Eliminates normal function
Results in complete gene inactivation or in a completely nonfunctional gene product

A

Amorphic

62
Q

other name for Hypomorphic mutation

A

leaky mutation

63
Q

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

A

Hypomorphic

64
Q

Individuals with hypomorphic mutations may have enough enzyme activity to “leak through” to produce a _____________ phenotype

A

quasi-normal

65
Q

Increases normal function
Produces a greater-than-normal level of gene expression (mutation changes the regulation of the gene so that the gene product is overproduced)

A

Hypermorphic

66
Q

other name for neomorph

A

ectopic expression

67
Q

other name for neomorph

A

ectopic expression

68
Q

Expressed at incorrect time or in inappropriate cell types (new function)
Qualitatively alters the action of a gene

A

Neomorph

69
Q

Mutant gene product interferes with normal gene product

A

Antimorphic

70
Q

Based on Molecular Change

A

Substitutions
Deletions
Insertions
Duplications
Inversions
Translocations

71
Q

In molecular genetics, base-pair substitutions are also termed _______ ____________

A

point mutations

72
Q

In classical genetics, point mutations denote any mutation that are

A

small enough to be unobservable under a microscope

73
Q

temporarily stop or decrease the expression of one or more targeted genes

A

Gene knockdown

74
Q

Most common type of mutation

A

Substitution

75
Q

Replacement by the same type of nucleotide
ex. C for T; A for G

A

Transition Substitution

76
Q

Substitution of a pyrimidine by a purine or vice versa
ex. A for T; C for G

A

Transversion Substitution

77
Q

Defense mechanism in substitution

A

Degeneracy

78
Q

the ability of elements that are structurally different to perform the same function or yield the same output

A

Degeneracy

79
Q

the regions in the DNA sequence, which comprises cytosine followed by guanine from 5′ to 3′ direction

A

CpG sites

80
Q

most common type of point mutation

A

Transition substitution

81
Q

Involves the loss of one or more nucleotides

A

Deletion

82
Q

Deletion of amino acids that may affect protein function or stability

A

Multiple of 3 nucleotides (codon)

83
Q

Deletion pattern that likely results in frameshift mutation

A

Not multiple of 3

84
Q

Deletion of amino acids that may affect protein function or stability

A

Multiple of 3 (codon)

85
Q

Deletion that may arise through unequal crossover between repeat sequences
Either: Partial gene deletion or Whole gene deletion

A

Large deletion

86
Q

Three-base deletion in the common cystic fibrosis (CF) allele results in synthesis of a protein that lacks:

A

amino acid 508 (phenylalanine)

87
Q

Involves the addition of one or more nucleotides into a gene

A

Insertion

88
Q

Insertion of amino acids that may affect protein function or stability

A

Multiple of 3 nucleotides (codon)

89
Q

Insertion pattern that likely results to frameshift mutation

A

Not multiple of 3

90
Q

Results from unequal crossover (e.g., hereditary sensory and motor neuropathy
type 1a) or the insertion of transposable elements

A

Large insertion

91
Q

examples of Expansion of trinucleotide repeat

A

Huntington disease
Triple X syndrome
Myotonic dystrophy
Friedreich ataxia

92
Q

Amplification of a sequence of three nucleotides, which prevents normal expression of the gene
Involves dynamic mutations wherein the repeat sequence becomes more unstable as it expands in size

A

Expansion of trinucleotide repeat

93
Q

Expansion of trinucleotide repeat mostly contains bases __ and/or __

A

C ; G

94
Q

Based on Effect on Protein Products

A

Synonymous (silent) and Nonsynonymous (missense, nonsense, and frameshift)

95
Q

Mutation does not alter the polypeptide product of the gene

A

Synonymous

96
Q

Mutation leads to an alteration in the encoded polypeptide
Likely to result in abnormal function, which is usually associated with disease, or lethality

A

Nonsynonymous

97
Q

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

A

Missense

98
Q

substitution involving different groups of amino acids

A

nonconservative missense mutation

99
Q

substitution involving same groups of amino acids

A

conservative missense mutation

100
Q

Sickle cell anemia affects the _________ ______ of hemoglobin

A

β-globin chain

101
Q

Amino acids involved in sickle cell anemia

A

Glutamic acid (normal) to Valine (mutant) at the 6th position out of 147 AA

102
Q

Base-pair substitutions that produce a stop codon in the mRNA
Result in a premature termination of the polypeptide chain
Unlikely to retain normal biological activity, especially when there is a loss of an important functional domain(s) of the protein

A

Nonsense

103
Q

Nonsense mutation wherein the codon for glutamine (CAG) creates a stop codon (UAG) as U, substituted for C

A

β0-thalassemia

104
Q

When a mutation involves the insertion or deletion of nucleotides that are not a multiple of three
Resulting amino acid sequence bears no resemblance to the normal sequence and may have an adverse effect on its function

A

Frameshift

105
Q

Other term for Frameshift mutation

A

indel

106
Q

Frameshift mutation that involves a four-base (TATC) insertion in the hexosaminidase A gene

A

Tay-Sachs disease

107
Q

mutation that happens in areas where exons must be cut and stick together

A

Splice Site Mutation

108
Q

Types of Splice Site Mutation

A

Exon skipping, Intron inclusion, Cryptic

109
Q

Consequence of Frameshift mutation

A

From mutation to end of the sequence is incorrect

MT 6315 (2 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions