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2S CYTOGEN > U6: GENETIC MUTATIONS + BASED ON ORIGIN, MUTAGENS > Flashcards

U6: GENETIC MUTATIONS + BASED ON ORIGIN, MUTAGENS Flashcards

1
Q

Alteration of the nucleotide sequence

A

Gene Mutation

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2
Q

Gene Mutations are caused by errors in the?

A

DNA replication process and mutagens

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3
Q

Caused by errors in crossing over during meiosis

A

Chromosomal Mutations

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4
Q

Single gene is affected

A

Gene Mutations

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5
Q

Sickle Cell Anemia, Hemophilia A, Cystic Fibrosis, Huntington, Tay-Sachs

A

Gene Mutations

aka Single Gene Diseases

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6
Q

Gene mutations have a limit in?

A

size

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7
Q

Influence in gene mutation is?

A

comparatively low

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8
Q

<1% of the population

A

Mutation

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9
Q

> 1% of the population

A

Polymorphism

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10
Q

Diseased, Carrier

A

Mutation

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11
Q

Ratio of mutation to disease

A

1:1

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12
Q

SNP stands for?

A

Single Nucleotide Polymorphism

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13
Q

> 90% Single Nucleotide Polymoprhism (SNP)

A

Polymorphism

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14
Q

Terms used in Polymorphism

A

affected or unaffected

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15
Q

This explains why mutations and polymorphisms are consequential.

A

Wobble (of genetic pole)

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16
Q

Maximum permissible changes in DNA

A

1/3

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17
Q

FORMATIVE: What is the sequence you can change in the DNA?

A

Only the last 1

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18
Q

At least two alternate DNA sequences

A

Genetic Polymorphism

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19
Q

Results in a change in phenotype

A

Genetic Polymorphism

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20
Q

T/F: Genetic polymorphism can be a risk of disease with the presence of a myriad of polymorphisms.

A

True

They do not act alone

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21
Q

Diabetes

A

Genetic Polymorphism

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22
Q

T/F: Genetic polymorphism cannot alter function or expression level of a protein.

A

False

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23
Q

Population attribute

A

Polymorphism

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24
Q

Physical event

A

Mutation

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25
Single base pair change in Polymorphism
Single Nucleotide Polymorphism (SNP)
26
Single base pair change in Mutation
Point Mutation
27
Presence of more than one allele at a particular locus in a particular population
Polymorphism
28
Permanent alteration of a nucleotide sequence of a gene
Mutation
29
Human gender and ABO Blood Group
Polymorphism
30
T/F: Natural selection does not affect alleles that bring polymorphism.
True
31
T/F: Natural selection selects the mutations that are best suited for the environment.
True
32
Relationship of organism and mutation
Inverse relationship
33
T/F: The bigger the genome, the less mutations
True
34
T/F: The bigger the population, the higher the mutation rates.
False The bigger the population, the lower the mutation rates
35
T/F: Humans have a higher mutation rate because we reproduce slowly.
True
36
This is the DNA polymerase's ability to correct changes in the DNA.
Fidelity
37
It refers to the ability to go back, read, and remove improperly placed bases.
Fidelity
38
Defined as "true to its function"
Fidelity
39
This term refers to having error rates in polymerase.
Nonzero
40
T/F: The lower the proofreading ability, the higher the mutation.
True
41
These organisms will have higher mutation because their DNA polymerase do not have proofreading abilities.
Bacteria
42
These organisms have a great haphazard polymerase but they do not have their own DNA.
Virus
43
This refers to fast replication process which might lose your controls or barrier changes.
Adaptability
44
Cancers are usually of what origin?
Epithelial high turnover rates
45
These are generally any agent that changes the genetic material (physical, chemical, biological)
Mutagens
46
Occurs in the absence of known mutagen
Spontaneous
47
Statistically random, unpredictable events
Spontaneous
48
Similar to endogenous mutations
Spontaneous
49
Errors are inherent to the cell
Spontaneous
50
Occurs in the presence of known mutagen
Induced
51
Usage of offending agent
Induced
52
Known agents of mutation
Induced
53
Congenital malformations
Teratogens
54
"Monster-creating"
Teratogens
55
Affect the overall structure
Teratogens
56
What cells does teratogens affect?
Pluripotent stem cells
57
Thalidomide, Teratoma
Teratogens
58
This refers to giving birth to a lump of cells with teeth.
Teratoma
59
Tumor formation, cancer-causing agents
Carcinogens
60
Rapid, uncontrollable proliferation of your cells
Cancer
61
p53, proto-oncogene, oncogene
Carcinogens
62
Chromosomal abnormalities
Clastogens
63
DNA damage
Non-Specific
64
Light, ionizing radiations, non-ionizing radiations, heat
Physical Mutagens
65
Opening up or change in structure
Heat on DNA
66
Like bullets, causing double stranded breaks
Ionizing radiations
67
What breaks DNA through ionizing radiations?
high energy particle
68
X-rays, Cosmic rays, Gamma rays
Ionizing radiations
69
UV rays
Non-ionizing radiations
70
causes Thymine Dimerization
Non-ionizing radiations
71
FORMATIVE: Does infrared rays cause gene mutations?
No
72
Meltdown of nuclear reactor in which dogs are still constantly mutating
Chernobyl (Russia)
73
Leukemia after initial exposure
Nagasaki and Hiroshima
74
Methyl (CH3) group substituents
Alkylating agents
75
Removal of nitrogen in a structure
Deaminating agents
76
Inside DNA
Intercalating agents
77
This is used in molecular diagnostics as a stain for DNA
Ethidium Bromide
78
Oncogenic viruses, Transposons
Biological Mutagens
79
"Jumping genes", Natural elements of the DNA that jump from one place to another
Transposons
80
UV-light, DNA lesions/DNA bumps
Exogenous
81
This refers to too much uncontrolled thymine-dimerized DNA results in the body eliminating mutated cells causing the skin to slough off.
Sunburn
82
Most common dipyrimidine product of UV exposure
thymine-thymine dimers
83
Enzymes that could cut these dimers and transform it back into the normal DNA
Photolyases
84
Benzo[a]pyrene
Exogenous
85
Benzo[a]pyrene is a source of?
polycyclic aromatic hydrocarbons from smoking and burned meat
86
Bulky DNA adducts at guanine (BPDE-dG)
Smoking
87
Both exogenous and endogenous
Reactive Oxygen Species
88
H2O2 (Hydrogen Peroxide)
Reactive Oxygen Species
89
Oxidation of guanine (8-oxo-G, 8-oxo-dGTP)
Reactive Oxygen Species
90
Oxygen with one unpaired electron
Reactive Oxygen Species
91
Also called as oxygen-free radicals
Reactive Oxygen Species
92
Mechanisms that prevent action of reactive oxygen species
Reducing agents
93
What metabolism produces a lot of reactive oxygen species?
Red cell metabolism
94
Vitamin C (Ascorbic Acid), Vitamin E (tocopherol), Glutathione
Reducing agents
95
Means which neutrophils kill bacteria
Oxidative burst
96
Spontaneous or Enzymatic DNA Base Modifications
Endogenous
97

2S CYTOGEN (16 decks)

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