8 MUTATION Flashcards
so long diseases.71 (106 cards)
1
Q
refers to any change in the genetic material of the organism
A
Mutation
2
Q
may result from a change in the base sequence of the DNA in the chromosome
A
mutation
3
Q
may
appear as totally unique from the other members of its species
A
mutant organism
4
Q
Mutation can be categorized
into
A
somatic mutation
germ mutation
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
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
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
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
9
Q
Aberrations may include the:
A
a) whole genome,
b) entire single chromosome, and
c) part of the chromosome.
10
Q
Aberration may be a change in the ____ of the chromosome or a change in the
____ of the chromosome
A
structure
number
11
Q
(a change in the entire set of the chromosome
A
euploidy
12
Q
loss or addition
of a single whole chromosome)
A
aneuploidy
13
Q
euploidy that carry only one genome
A
Haploid
14
Q
euploidy that carry 2 genomes
A
Diploid
15
Q
euploidy that carry 3 genomes.
A
Triploid
16
Q
euploidy that carry 3 or complete set of chromosomes
A
Polyploids
17
Q
Polyploidy is a characteristic more common in ____
A
plants than in animals
18
Q
at least ____ of
the grasses are polyploids
A
2/3
19
Q
polyploids have an imbalance in the sex determining
mechanism resulting to ____ due to aberrant meiosis
A
sterility
20
Q
are characterized by the multiplication of a single whole genome or
chromosome set.
A
Autopolyploids
21
Q
Polyploid plants are characterized by;
A
- Increased in the individual cell size.
- Slower growth rate and later maturity than diploids.
-
Thicker leaves, larger but fewer flowers, and larger fruits than diploids, reduce fertility
in varying degrees.
22
Q
are characterized by the multiplication of two or more genomes or
chromosome sets
A
Allopolyploids
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
24
Q
Polyploidy in Human result to?
A
a) Spontaneous aborted fetus
b) Stillborn
c) Some live for an hour but gross malformations.
25
Theories on the origin of polyploid human embryo?
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).
26
occurs when one or more chromosomes of a normal set (genome) are
lacking or are present in excess
Aneuploidy
27
they have incomplete genome
Aneuploidy
28
Trisomy 21
(Down Syndrome)
29
Trisomy 18
(Edward Syndrome)
30
Trisomy 13
(Patau Syndrome).
31
2n = 45, 22II + X
Turner’s Syndrome
32
2n = 47, 22II +XXY
## Footnote
male with female features
Klienfelter’s Syndrome
33
47, XXX
Metafemale
Triplo-X Syndrome
## Footnote
mental retardation and premature
menopause
34
47, XYY
Double Y Syndrome
Jacob's Syndrome
## Footnote
antisocialism,
aggressiveness, criminal tendency, and low IQ
35
Each break may produce two ends that may follow any of the
following paths?
* **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
36
Types of Structural Changes in the Chromosome:
1. Deficiencies or Deletions
2. Duplication or Repeats
3. Inversion
4. Interchange or Reciprocal Translocation
37
a loss of segment of the chromosome
Deficiencies or Deletions
38
Examples of chromosomal deficiency in man:
a) Philadelphia 22 chromosome
b) Cri-du-chat Syndrome
39
a deficiency for the large portion of long arm of
chromosome 22
Philadelphia 22 chromosome
40
due to the deletion in the short arm of the chromosome 5
Cri-du-chat Syndrome
## Footnote
cat-like cry during infancy, unique facial feature and other form of physical and mental retardation
41
occur when the section of the chromosome is in excess of the
normal amount
Duplication or Repeats
42
due to the rotation of chromosome segment to a full 180
degree
Inversion
43
Genetic consequences of inversion: with normal behavior, with complete fertility but
with a new linkage order, may be ____.
partially or completely sterile
44
Inversion can be classified as;
paracentric inversion
Pericentric inversion
45
which occurs when the centromere is not included in the inverted
segment.
paracentric inversion
46
which occurs when the inverted segment includes the centromere
Pericentric inversion
47
occurs when the single break in two non-homologous chromosomes produce an exchange sections between them
Interchange or Reciprocal Translocation
48
mutation involves a change in the nucleotide
Gene mutation
49
There are two
categories of gene mutation;
(1) base pair substitution and
(2) frameshift mutation
50
due to copy errors during DNA replication (in gene mutation)
Base pair substitution
51
There are two
types of base pair substitution
* the transversion mutation
* the transition mutation
52
is due to the substitution purine with another purine or the
substitution of one pyrimidine with another pyrimidine
Transition mutation
53
efers to the substitution of purine with
pyrimidine or substitution of pyrimidine with purine.
Transversion mutation
54
There are three kinds of amino acid substitution?
1. Non-sense mutation
2. Missense mutation
3. Same sense mutation
55
refers to a base pair substitution that results to the formation of a
termination or non-sense codon
Non-sense mutation
56
refers to a base pair substitution that results to the substitution of an
amino acid in the polypeptide chain
Missense mutation
57
refers to a base pair substitution that does not change the type of
amino acid in the polypeptide chain
Same sense mutation
58
an insertion or deletion of a base that changes the reading frame
of the entire subsequent sequence
Frameshift mutation
59
. Anything that can
cause or induce mutation is known as?
mutagenic agents
60
Mutagenic Agents Classification
Physical mutagen
Chemical mutagen
Environmental mutagen
61
Kinds of Physical mutagen
Ionizing Radiation
Non-ionizing Radiation
62
examples of ionizing radiation
x-ray
gamma ray
63
example of non-ionizing radiation
UV rays
64
can **break the DNA strand** (produce break in the chromosome rather than a base change). It can effectively killed viruses with single stranded DNA.
Ionizing radiation
65
does not penetrate deeply into the tissues but effective in killing bacteria and fungus
and may cause skin cancer
Non-ionizing radiation
66
Non-ionizing radiation can result in the
(a) distortion of DNA
molecule, and
(b) cross-linking between adjacent DNA molecules, which stops DNA
replication.
67
Mechanism of action of nitrous acid
Changes C to Uracil
Changes CG pair to TA pair
68
Mechanism of action of base analogues
Substitute for DNA bases
(bromouracil similar to thymine substitute T
during DNA synthesis)
69
Mechanism of action of proflavin and other dyes
Inhibits spindle formation and prevents
anaphase
70
Mechanism of action of colchicines
* 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
Mechanism of action of mustard gas (sulfur mustard)
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
component of marijuana
delta – 9 – THC
or
delta-9-tetrahydrocannabinol
73
Mechanism of action of hair dye components
* 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
Potentially mutagenic chemical inducing cancer in humans
carcinogen
75
Mutagenic chemicals
* air and water pollutants
* food additives
* food preservatives
* agricultural chemicals
76
carcinogens of air and water pollutants
benzo – a – pyrene
77
carcinogens of food additives
**hydrocarbon** produced in the cooking of meat
78
carcinogens of food preservatives
**aflatoxin** produced in some grains such as peanut and
corn
79
carcinogens of agricultural chemicals
some components of commercially available dyes
80
There are ways by which the chemicals in the environment can be screened for its
mutagenicity
host-mediated assay and the Ames Test.
81
During the biblical times, ____ was considered as the most threatening disease
leprosy
82
____ or “black death” during the middle ages
bubonic plague
83
“white death” or ____ on the
last century; and cancer in the modern ages
tuberculosis
84
is a common term for aggressive and usually fatal form of a large class of disease known as neoplasm
cancer
85
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**
neoplasm
86
in neoplasm the following may occur?
a) some cells grow rapidly than tissue from where they arise, and
b) others grow at a normal pace
87
The changes seen in ____ are usually heritable since these characteristics are passed on from its cell to its progeny or daughter cells.
neoplasm
88
Classification of neoplasm
Benign neoplasm
Malignant neoplasm
89
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)
Benign neoplasm
90
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)
Malignant neoplasm
91
# chemical agents that can cause cancer
components of cigarette smokes
Hydrocarbons and nitrosamines
92
# chemical agents that can cause cancer
component in dye making
Aromatic amines (2 –
naphtylamine )
93
# chemical agents that can cause cancer
Drugs for cancer treatment
Break the DNA strands of cancer cells, thus killing the cell. However, they might also induce cancer in normal cells
94
# chemical agents that can cause cancer
Hormones
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
# chemical agents that can cause cancer
molecule produced by the strains of mold Aspergillus
causing liver cancer
Naturally occurring chemicals
in molds and plants (aflatoxin)
96
causing shistosomiasis may also cause bladder cancer
Blood flukes
97
may cause cancer of the nose and throat
Epstein barr viruses, Papilloma virus and Herpes virus
98
Seven Warning Signals of Cancer
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
common types of cancers
breast cancer
lung cancer
prostate cancer
skin cancer
100
caused by excessive exposure to sunlight
skin cancer
101
increases dramatically with age; about 80% diagnose in men over 65 years of age
prostate cancer
102
Principally caused by tobacco smoking
lung cancer
103
leading killer of women worldwide
breast cancer
104
breast cancer should be detected earlier by?
self-examination of the breast or mammography
(successful in detecting tumors at early stage)
105
breast cancers can be treated by?
mastectomy or lumpectomy, followed by chemotherapy
106
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.
750,000
## Footnote
has no cure, since at the time of diagnosis cancer might already metastasize
