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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
Q

Single base pair change in Polymorphism

A

Single Nucleotide Polymorphism (SNP)

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26
Q

Single base pair change in Mutation

A

Point Mutation

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27
Q

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

A

Polymorphism

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28
Q

Permanent alteration of a nucleotide sequence of a gene

A

Mutation

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29
Q

Human gender and ABO Blood Group

A

Polymorphism

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30
Q

T/F: Natural selection does not affect alleles that bring polymorphism.

A

True

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31
Q

T/F: Natural selection selects the mutations that are best suited for the environment.

A

True

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32
Q

Relationship of organism and mutation

A

Inverse relationship

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33
Q

T/F: The bigger the genome, the less mutations

A

True

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34
Q

T/F: The bigger the population, the higher the mutation rates.

A

False

The bigger the population, the lower the mutation rates

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35
Q

T/F: Humans have a higher mutation rate because we reproduce slowly.

A

True

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36
Q

This is the DNA polymerase’s ability to correct changes in the DNA.

A

Fidelity

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37
Q

It refers to the ability to go back, read, and remove improperly placed bases.

A

Fidelity

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38
Q

Defined as “true to its function”

A

Fidelity

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39
Q

This term refers to having error rates in polymerase.

40
Q

T/F: The lower the proofreading ability, the higher the mutation.

41
Q

These organisms will have higher mutation because their DNA polymerase do not have proofreading abilities.

42
Q

These organisms have a great haphazard polymerase but they do not have their own DNA.

43
Q

This refers to fast replication process which might lose your controls or barrier changes.

A

Adaptability

44
Q

Cancers are usually of what origin?

A

Epithelial

high turnover rates

45
Q

These are generally any agent that changes the genetic material (physical, chemical, biological)

46
Q

Occurs in the absence of known mutagen

A

Spontaneous

47
Q

Statistically random, unpredictable events

A

Spontaneous

48
Q

Similar to endogenous mutations

A

Spontaneous

49
Q

Errors are inherent to the cell

A

Spontaneous

50
Q

Occurs in the presence of known mutagen

51
Q

Usage of offending agent

52
Q

Known agents of mutation

53
Q

Congenital malformations

A

Teratogens

54
Q

“Monster-creating”

A

Teratogens

55
Q

Affect the overall structure

A

Teratogens

56
Q

What cells does teratogens affect?

A

Pluripotent stem cells

57
Q

Thalidomide, Teratoma

A

Teratogens

58
Q

This refers to giving birth to a lump of cells with teeth.

59
Q

Tumor formation, cancer-causing agents

A

Carcinogens

60
Q

Rapid, uncontrollable proliferation of your cells

61
Q

p53, proto-oncogene, oncogene

A

Carcinogens

62
Q

Chromosomal abnormalities

A

Clastogens

63
Q

DNA damage

A

Non-Specific

64
Q

Light, ionizing radiations, non-ionizing radiations, heat

A

Physical Mutagens

65
Q

Opening up or change in structure

A

Heat on DNA

66
Q

Like bullets, causing double stranded breaks

A

Ionizing radiations

67
Q

What breaks DNA through ionizing radiations?

A

high energy particle

68
Q

X-rays, Cosmic rays, Gamma rays

A

Ionizing radiations

69
Q

UV rays

A

Non-ionizing radiations

70
Q

causes Thymine Dimerization

A

Non-ionizing radiations

71
Q

FORMATIVE: Does infrared rays cause gene mutations?

72
Q

Meltdown of nuclear reactor in which dogs are still constantly mutating

A

Chernobyl (Russia)

73
Q

Leukemia after initial exposure

A

Nagasaki and Hiroshima

74
Q

Methyl (CH3) group substituents

A

Alkylating agents

75
Q

Removal of nitrogen in a structure

A

Deaminating agents

76
Q

Inside DNA

A

Intercalating agents

77
Q

This is used in molecular diagnostics as a stain for DNA

A

Ethidium Bromide

78
Q

Oncogenic viruses, Transposons

A

Biological Mutagens

79
Q

“Jumping genes”, Natural elements of the DNA that jump from one place to another

A

Transposons

80
Q

UV-light, DNA lesions/DNA bumps

81
Q

This refers to too much uncontrolled thymine-dimerized DNA results in the body eliminating mutated cells causing the skin to slough off.

82
Q

Most common dipyrimidine product of UV exposure

A

thymine-thymine dimers

83
Q

Enzymes that could cut these dimers and transform it back into the normal DNA

A

Photolyases

84
Q

Benzo[a]pyrene

85
Q

Benzo[a]pyrene is a source of?

A

polycyclic aromatic hydrocarbons

from smoking and burned meat

86
Q

Bulky DNA adducts at guanine (BPDE-dG)

87
Q

Both exogenous and endogenous

A

Reactive Oxygen Species

88
Q

H2O2 (Hydrogen Peroxide)

A

Reactive Oxygen Species

89
Q

Oxidation of guanine (8-oxo-G, 8-oxo-dGTP)

A

Reactive Oxygen Species

90
Q

Oxygen with one unpaired electron

A

Reactive Oxygen Species

91
Q

Also called as oxygen-free radicals

A

Reactive Oxygen Species

92
Q

Mechanisms that prevent action of reactive oxygen species

A

Reducing agents

93
Q

What metabolism produces a lot of reactive oxygen species?

A

Red cell metabolism

94
Q

Vitamin C (Ascorbic Acid), Vitamin E (tocopherol), Glutathione

A

Reducing agents

95
Q

Means which neutrophils kill bacteria

A

Oxidative burst

96
Q

Spontaneous or Enzymatic DNA Base Modifications

A

Endogenous

2S CYTOGEN (16 decks)

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