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8 MUTATION Flashcards

so long diseases.71

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1
Q

refers to any change in the genetic material of the organism

A

Mutation

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2
Q

may result from a change in the base sequence of the DNA in the chromosome

A

mutation

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3
Q

may
appear as totally unique from the other members of its species

A

mutant organism

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4
Q

Mutation can be categorized
into

A

somatic mutation
germ mutation

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5
Q

mutation occurs in any body cell except egg cell; not passed on to offspring
since it ceases to exist when the organism die.

A

Somatic mutation

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6
Q

mutation occurs in the reproductive cell; can be transmitted to offspring and
be passed on from one generation to another.

A

Germ mutation

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7
Q

Classification of Mutation

A

a) Mutation due to changes in chromosome number
b) Mutation due to change in chromosome structure
c) Gene mutation

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8
Q

Irregularities in the chromosomes may occur during cell division or by accident such
as exposure to radiation resulting to ____

A

Chromosomal Aberrations/
aberrant chromosome

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9
Q

Aberrations may include the:

A

a) whole genome,
b) entire single chromosome, and
c) part of the chromosome.

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10
Q

Aberration may be a change in the ____ of the chromosome or a change in the
____ of the chromosome

A

structure
number

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11
Q

(a change in the entire set of the chromosome

A

euploidy

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12
Q

loss or addition
of a single whole chromosome)

A

aneuploidy

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13
Q

euploidy that carry only one genome

A

Haploid

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14
Q

euploidy that carry 2 genomes

A

Diploid

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15
Q

euploidy that carry 3 genomes.

A

Triploid

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16
Q

euploidy that carry 3 or complete set of chromosomes

A

Polyploids

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17
Q

Polyploidy is a characteristic more common in ____

A

plants than in animals

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18
Q

at least ____ of
the grasses are polyploids

A

2/3

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19
Q

polyploids have an imbalance in the sex determining
mechanism resulting to ____ due to aberrant meiosis

A

sterility

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20
Q

are characterized by the multiplication of a single whole genome or
chromosome set.

A

Autopolyploids

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21
Q

Polyploid plants are characterized by;

A
  1. Increased in the individual cell size.
  2. Slower growth rate and later maturity than diploids.
  3. Thicker leaves, larger but fewer flowers, and larger fruits than diploids, reduce fertility
    in varying degrees.
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22
Q

are characterized by the multiplication of two or more genomes or
chromosome sets

A

Allopolyploids

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23
Q

Allopolyploids are responsible for the formation of the new species such as ____

A

wheat,
tobacco, and Raphanobrassica

are usually fertile and possess many of the characteristics of the autopolyploids

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24
Q

Polyploidy in Human result to?

A

a) Spontaneous aborted fetus
b) Stillborn
c) Some live for an hour but gross malformations.

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25
Q

Theories on the origin of polyploid human embryo?

A

a) Fusion of normal haploid gamete with a diploid gamete (little evidence)
b) Fertilization of normal haploid egg by more than one sperm cell (no evidence for humans, a little evidence for rabbits and rats).

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26
Q

occurs when one or more chromosomes of a normal set (genome) are
lacking or are present in excess

A

Aneuploidy

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27
Q

they have incomplete genome

A

Aneuploidy

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28
Q

Trisomy 21

A

(Down Syndrome)

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29
Q

Trisomy 18

A

(Edward Syndrome)

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30
Q

Trisomy 13

A

(Patau Syndrome).

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31
Q

2n = 45, 22II + X

A

Turner’s Syndrome

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32
Q

2n = 47, 22II +XXY

male with female features

A

Klienfelter’s Syndrome

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33
Q

47, XXX

A

Metafemale
Triplo-X Syndrome

mental retardation and premature
menopause

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34
Q

47, XYY

A

Double Y Syndrome
Jacob’s Syndrome

antisocialism,
aggressiveness, criminal tendency, and low IQ

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35
Q

Each break may produce two ends that may follow any of the
following paths?

A
  • Broken ends may remain not united, leading to eventual loss of segment, which does not include the centromere.
  • Same broken ends may reunite immediately.
  • Broken ends may join with those produce by another break causing an exchange or non-restitutional union
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36
Q

Types of Structural Changes in the Chromosome:

A
  1. Deficiencies or Deletions
  2. Duplication or Repeats
  3. Inversion
  4. Interchange or Reciprocal Translocation
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37
Q

a loss of segment of the chromosome

A

Deficiencies or Deletions

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38
Q

Examples of chromosomal deficiency in man:

A

a) Philadelphia 22 chromosome
b) Cri-du-chat Syndrome

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39
Q

a deficiency for the large portion of long arm of
chromosome 22

A

Philadelphia 22 chromosome

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40
Q

due to the deletion in the short arm of the chromosome 5

A

Cri-du-chat Syndrome

cat-like cry during infancy, unique facial feature and other form of physical and mental retardation

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41
Q

occur when the section of the chromosome is in excess of the
normal amount

A

Duplication or Repeats

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42
Q

due to the rotation of chromosome segment to a full 180
degree

A

Inversion

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43
Q

Genetic consequences of inversion: with normal behavior, with complete fertility but
with a new linkage order, may be ____.

A

partially or completely sterile

44
Q

Inversion can be classified as;

A

paracentric inversion
Pericentric inversion

45
Q

which occurs when the centromere is not included in the inverted
segment.

A

paracentric inversion

46
Q

which occurs when the inverted segment includes the centromere

A

Pericentric inversion

47
Q

occurs when the single break in two non-homologous chromosomes produce an exchange sections between them

A

Interchange or Reciprocal Translocation

48
Q

mutation involves a change in the nucleotide

A

Gene mutation

49
Q

There are two
categories of gene mutation;

A

(1) base pair substitution and
(2) frameshift mutation

50
Q

due to copy errors during DNA replication (in gene mutation)

A

Base pair substitution

51
Q

There are two
types of base pair substitution

A
  • the transversion mutation
  • the transition mutation
52
Q

is due to the substitution purine with another purine or the
substitution of one pyrimidine with another pyrimidine

A

Transition mutation

53
Q

efers to the substitution of purine with
pyrimidine or substitution of pyrimidine with purine.

A

Transversion mutation

54
Q

There are three kinds of amino acid substitution?

A
  1. Non-sense mutation
  2. Missense mutation
  3. Same sense mutation
55
Q

refers to a base pair substitution that results to the formation of a
termination or non-sense codon

A

Non-sense mutation

56
Q

refers to a base pair substitution that results to the substitution of an
amino acid in the polypeptide chain

A

Missense mutation

57
Q

refers to a base pair substitution that does not change the type of
amino acid in the polypeptide chain

A

Same sense mutation

58
Q

an insertion or deletion of a base that changes the reading frame
of the entire subsequent sequence

A

Frameshift mutation

59
Q

. Anything that can
cause or induce mutation is known as?

A

mutagenic agents

60
Q

Mutagenic Agents Classification

A

Physical mutagen
Chemical mutagen
Environmental mutagen

61
Q

Kinds of Physical mutagen

A

Ionizing Radiation
Non-ionizing Radiation

62
Q

examples of ionizing radiation

A

x-ray
gamma ray

63
Q

example of non-ionizing radiation

A

UV rays

64
Q

can break the DNA strand (produce break in the chromosome rather than a base change). It can effectively killed viruses with single stranded DNA.

A

Ionizing radiation

65
Q

does not penetrate deeply into the tissues but effective in killing bacteria and fungus
and may cause skin cancer

A

Non-ionizing radiation

66
Q

Non-ionizing radiation can result in the

A

(a) distortion of DNA
molecule, and
(b) cross-linking between adjacent DNA molecules, which stops DNA
replication.

67
Q

Mechanism of action of nitrous acid

A

Changes C to Uracil
Changes CG pair to TA pair

68
Q

Mechanism of action of base analogues

A

Substitute for DNA bases
(bromouracil similar to thymine substitute T
during DNA synthesis)

69
Q

Mechanism of action of proflavin and other dyes

A

Inhibits spindle formation and prevents
anaphase

70
Q

Mechanism of action of colchicines

A
  • Blocks mitotic cells in metaphase
  • Binds to soluble tubulin to form tubulin-colchicine complexes in a poorly reversible manner preventing the elongation of microtubule polymer
71
Q

Mechanism of action of mustard gas (sulfur mustard)

A

Genotoxic mechanism of action (DNA alkylation leading to cross-link formation, inhibition of DNA synthesis and repair, point mutations, and induction of chromosometype and chromatid-type aberrations

72
Q

component of marijuana

A

delta – 9 – THC
or
delta-9-tetrahydrocannabinol

73
Q

Mechanism of action of hair dye components

A
  • Mutagenic in bacteria (induce mutation by chromosome breakage, sister chromatid exchanges)
  • Malignant transformation in mammalian cells
  • Mutation in Drosophila
  • Induce mitotic recombination in yeast
  • Induce tumors in rodents
74
Q

Potentially mutagenic chemical inducing cancer in humans

A

carcinogen

75
Q

Mutagenic chemicals

A
  • air and water pollutants
  • food additives
  • food preservatives
  • agricultural chemicals
76
Q

carcinogens of air and water pollutants

A

benzo – a – pyrene

77
Q

carcinogens of food additives

A

hydrocarbon produced in the cooking of meat

78
Q

carcinogens of food preservatives

A

aflatoxin produced in some grains such as peanut and
corn

79
Q

carcinogens of agricultural chemicals

A

some components of commercially available dyes

80
Q

There are ways by which the chemicals in the environment can be screened for its
mutagenicity

A

host-mediated assay and the Ames Test.

81
Q

During the biblical times, ____ was considered as the most threatening disease

A

leprosy

82
Q

____ or “black death” during the middle ages

A

bubonic plague

83
Q

“white death” or ____ on the
last century; and cancer in the modern ages

A

tuberculosis

84
Q

is a common term for aggressive and usually fatal form of a large class of disease known as neoplasm

A

cancer

85
Q

is a condition by which the biological mechanisms that
govern the growth and metabolism of a normal cell and the overall interactions of living
organisms are not followed

A

neoplasm

86
Q

in neoplasm the following may occur?

A

a) some cells grow rapidly than tissue from where they arise, and
b) others grow at a normal pace

87
Q

The changes seen in ____ are usually heritable since these characteristics are passed on from its cell to its progeny or daughter cells.

A

neoplasm

88
Q

Classification of neoplasm

A

Benign neoplasm
Malignant neoplasm

89
Q

 encapsulated
 its structure is similar to the tissue from where they were derived
 do not metastasize (begin to grow at sites other than the point of origin)

A

Benign neoplasm

90
Q

 not encapsulated
 has an abnormal and unstructured appearance with abnormalities in chromosomes
structure (DNA molecule that constitute the genetic material is duplicated and passed
on to later generation)
 Grow rapidly than benign forms
 metastasize (invade adjacent, normal tissue)

A

Malignant neoplasm

91
Q

chemical agents that can cause cancer

components of cigarette smokes

A

Hydrocarbons and nitrosamines

92
Q

chemical agents that can cause cancer

component in dye making

A

Aromatic amines (2 –
naphtylamine )

93
Q

chemical agents that can cause cancer

Drugs for cancer treatment

A

Break the DNA strands of cancer cells, thus killing the cell. However, they might also induce cancer in normal cells

94
Q

chemical agents that can cause cancer

Hormones

A

Estrogen - female hormone that is being administrated in menopausal women may result in cancer
of the uterus (solution: estrogen is administered together with progesterone)

95
Q

chemical agents that can cause cancer

molecule produced by the strains of mold Aspergillus
causing liver cancer

A

Naturally occurring chemicals
in molds and plants (aflatoxin)

96
Q

causing shistosomiasis may also cause bladder cancer

A

Blood flukes

97
Q

may cause cancer of the nose and throat

A

Epstein barr viruses, Papilloma virus and Herpes virus

98
Q

Seven Warning Signals of Cancer

A
  1. Change in bowel or bladder functions.
  2. A sore that does not heal
  3. Unusual bleeding or discharge
  4. Thickening or lump in the breast or elsewhere
  5. Indigestion or difficulty in swallowing
  6. A change in wart or mole
  7. Nagging cough or hoarseness
99
Q

common types of cancers

A

breast cancer
lung cancer
prostate cancer
skin cancer

100
Q

caused by excessive exposure to sunlight

A

skin cancer

101
Q

increases dramatically with age; about 80% diagnose in men over 65 years of age

A

prostate cancer

102
Q

Principally caused by tobacco smoking

A

lung cancer

103
Q

leading killer of women worldwide

A

breast cancer

104
Q

breast cancer should be detected earlier by?

A

self-examination of the breast or mammography
(successful in detecting tumors at early stage)

105
Q

breast cancers can be treated by?

A

mastectomy or lumpectomy, followed by chemotherapy

106
Q

It is estimated that lifetime smoking of more than ____ cigarettes will always lead to cancer of the lungs unless the smokers died prematurely of another cause.

A

750,000

has no cure, since at the time of diagnosis cancer might already metastasize

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