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CYTOGENETICS > CYTOGEN 3RD TRINAL > Flashcards

CYTOGEN 3RD TRINAL Flashcards

1
Q
  • diff varieties of chromosomes
A

VARIATION

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2
Q
  • division of normal chromosome
    structure
A

MUTATION

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3
Q
  • Change in the sequence structure of genetic
    material
A

MUTATION

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4
Q

2 TYPES OF MUTAGENS

A
  1. PHYSICAL MUTAGENS
  2. CHEMICAL MUTAGENS
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5
Q

e.g., X-rays, UV rays

A

Physical Mutagens

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6
Q
  • leads to cancer
    e.g., mustard gas, nicotine, benzene
A

Chemical Mutagens

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7
Q

ORIGIN OF MUTATION

A

1) HEREDITARY/GERMLINE MUTATION
2) ACQUIRED/SOMATIC MUTATION

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8
Q
  • runs in the family
  • de-novo mutation = new (no previous
    history, first time to experience)
A

HEREDITARY/GERMLINE MUTATION

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9
Q
    • occurs in body cells
  • Not hereditary
  • e.g., cancer
A

ACQUIRED/SOMATIC MUTATION

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10
Q

TYPES OF MUTATION
On basis of HOW

A
  1. SPONTANEOUS
  2. INDUCED -
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11
Q

TYPES OF MUTATION
On basis of HOW that naturally occurs (internal
factors)

A

SPONTANEOUS

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12
Q

TYPES OF MUTATION
On basis of HOW is an external factors (mutagens)
——>Euploidy (tri, tetra, so on)

A

INDUCED

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13
Q

TYPES OF MUTATION
On basis of WHERE

A
  1. DNA or gene mutation-
  2. Chromosomal aberration -
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14
Q

TYPES OF MUTATION
On basis of WHERE that changes in
structure/number

A

Chromosomal aberration

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15
Q

TYPES OF MUTATION
On basis of WHERE that is a point mutation

A

DNA or gene mutation

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16
Q

causative agent of mutation

A

mutagens

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17
Q

2 copies of each chromosome
somatic non sex cells
composed of first 22 copies of chromosome

A

diploid organism

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18
Q

sex cells,
one copy of each chromosome (gametes)
last chromosome (X,Y)

A

haploid

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19
Q
  • equational division takes place in
    somatic cells
A

mitosis

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20
Q

process of mitosis

A

interphase
prophase
metaphase
anaphase
telophase

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21
Q

last step in the process of mitosis and is a divison of 2 new cells

A

cytokenesis

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22
Q
  • normal chromosome
    -No. of sets of chromosomes in a biological
    cell.
A

PLOIDY

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23
Q
  • abnormal chromosome
  • is the state of a cell or organism having an
    integral multiple of monoploid number
A

EUPLOIDY

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24
Q
  • Refers to number of basic chromosome sets
A

PLOIDY

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25
Q
  • A diploid has ____ sets where as a hexaploidy
    has ____ sets
A

2
6

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26
Q

The basic chromosome number x, also
called the ____________ is the number
of different chromosomes that make up a
single complete set

A

monoploid number

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27
Q

gene containing chromosomes that are
multiple of basic single set

A

EUPLOIDY

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28
Q

the variation in the chromosome number that
occurs due to increase or decrease of full
set of chromosomes

A

EUPLOIDY

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29
Q

the condition of an organism having
complete set of chromosomes or multiples of
the basic set is euploidy and the cell is said
to be euploid

A

EUPLOIDY

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30
Q

is lethal in most animal species, but
often tolerated in plants, where it has played
a role in specification and diversification

A

euploidy

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31
Q

same species/ same individual

A

autoploidy

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32
Q

same species/different individual

A

allploidy

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33
Q
  • This is a condition where the chromosome
    number is not an exact multiple of the
    normal diploid number, with either fewer or
    more than the normal number of
    chromosomes in the cell
A

ANEUPLOIDY

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34
Q
  • can result when either round of meiotic division lacks cytokinesis, or when meiotic
    nondisjunction occurs for all chromosomes
    -did not separate
A

Monoploidy and polyploidy

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35
Q

A gamete with 2 sets of chromosomes fused
with a normal gamete produces a

A

triploid (3N) zygote

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36
Q

Complete nondisjunction at meiosis produce
____________ with the normal chromosomes, and ________________

A

½ gametes
½ with no chromosome

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37
Q

Fusion of 2 gametes that each have 2 sets of
chromosomes produces a

A

tetraploid (4N) zygote

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38
Q

can result from mitotic nondisjunction of complete chromosome sets

A

Polyploidy of somatic cells

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39
Q

An individual that contains ½ the normal
number of chromosomes is a ____________
and exhibits ___________

A

monoploid
monoploidy

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40
Q

Some species such as bee, ants and male
bees are normally _____________ because they
developed from unfertilized eggs.
Consequently, these individuals will be
sterile

A

monoploid

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41
Q

are very rare in nature because
recessive lethal mutations become
unmasked, and thus they die before they are
detected

A

Monoploids

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42
Q

These alleles normally are not a problem in
diploids because their effects are masked by
dominant alleles in the genome

A

MONOPLOIDY

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43
Q
  • Occurs in cells and organisms when there
    are more than 2 homologous sets of
    chromosomes
  • Very common in plants
A

POLYPLOIDY

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44
Q
  • polyploids as a result of
    duplications in the SAME species
A

AUTOPOLYPLOIDS

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45
Q
  • polyploid formed by the
    hybridization BETWEEN TWO species.
A

ALLOPLOIDS

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46
Q

A ___________________. is derived from
hybridization from two or more diploid species
with chromosome doubling following the
hybridization

A

typica allopolyploid spp.

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47
Q

A human cell has ________chromosomes, which is an integral multiple of the monoploid number, 23

A

46

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48
Q

> MONOSOMY (2n-1)
NULLISOMY (2n-2)

A

HYPOPLOIDY

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49
Q

> TRISOMY (2n+1)
TETRASOMY (2n+2)

A

HYPERPLOIDY

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50
Q
  • second most common condition
  • there are 45 chromosomes in each cell of the body instead of the usual 46
A

Monosomy

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51
Q
  • most common condition
  • this means they have 47 chromosomes instead of 46.
    ex. down syndrome
52
Q

are abnormal structural and numerical changes

A

Chromosomal changes

53
Q
  • Chromosomal changes are abnormal
    structural and numerical changes
  • They are also called chromosomal mutations
A

chromosomal aberrations

54
Q

Gross structural changes of chromosomes are
called

A

structural aberrations or
chromosome re-arrangements

55
Q

Numerical changes are called

A

ploidy changes or numerical aberrations

56
Q

are chromosomes involve in the gain, loss or relocation of chromosome
segments and genes

A

Structural changes

57
Q

STRUCTURAL CHANGES are

A

o Intrachromosomal aberrations
(homosomal aberration)
o Interchromosomal aberrations

58
Q

Chromosomal aberration are of 4 basic types

A
  1. Deficiency or deletion
  2. Duplication
  3. Inversion
  4. Translocation
59
Q

▪ Loss of a chromosome segment, together
with the genes contains in it

A

DEFICIENCY OR DELETION

60
Q
  • loss of a terminal segment, with a single break in the chromosomes
  • end part
A

Terminal deletion

61
Q
  • loss of an intercalary segment, with 2 breaks
  • center
A

Intercalary deletion

62
Q
  • a segment is lost from both the chromosomes of a homologous pair
A

Homozygous deletion

63
Q
  • a segment is lot only from 1 of the 2 homologues
A

Heterozygous deletion

64
Q

involves the loss of genes so they
have deleterious effect on organisms

65
Q

If the lost genes are crucial for viability,
___________________________ may result

A

sterile gametes or nonfunctional somatic
cells

66
Q
  • deletion of long arm of chromosome 21
  • 9 part is lost
A

Granulocytic leukemia

67
Q
  • heterozygous deletion in the short arm of chromosome 5
A

Cri-du-chat syndrome

68
Q

is the doubling or repetition of
chromosome segment during chromosome
__________

A

Duplication

69
Q

a set of genes gets doubles
or repeated

A

Duplication

70
Q

The extra set of genes in duplication is generally called

A

“repeat”

71
Q

3 types of duplication

A
  1. Tandem Duplication
  2. Reverse Tandem Duplication
  3. Displaced duplication
72
Q
  • the extra segment and the parent segment are next to each other and have the same order of genes
  • repeated
A

Tandem Duplication

73
Q
  • the extra segment lies next to parent segment with reversed gene sequence
  • nagbaliktad
A

Reverse Tandem Duplication

74
Q
  • the duplicate segment lies some distance away from the parent segment
  • away
A

Displaced duplication

75
Q

are more frequent and less
deleterious than deletions

A

Duplications

76
Q

are believed to be important
raw materials of organic evolution

A

Duplications

77
Q

affect the regulation of
gene activity and there by causes
phenotypic alterations which in turn
promotes speciation and evolution

A

Large duplications

78
Q
  • the reversal of the linear order of
    a chromosome segment and its gene
    sequence
79
Q

Believed to be occur in intercalary
segments-

A

intercalary inversion

80
Q

involves the breakage of a chromosome segment an its subsequent re-insertion into the same location in a reversed orientation

A

Intercalary inversion

81
Q

in this case 2 breaks occur in a
chromosome-

A

inversion points

82
Q
  • the rotation (180)
    and reinsertion of an acentric segment
A

paracentric inversion

83
Q
  • the rotation (180)
    and reinsertion of a centric segment
A

pericentric inversion

84
Q

paracentric inversion is of two types

A

(i) Intraradial or homobranchial
inversion
(ii) Interradial or heterobranchial
inversion

85
Q
  • single inversion in one arm
A

Intraradial or homobranchial
inversion

86
Q
  • 2 inversions 1 in each arm
A

Interradial or heterobranchial
inversion

87
Q

inversion that does not include centromere

A

paracentric inversion

88
Q

inversion that includes centromere

A

pericentric inversion

89
Q
  • only 1 segment is inverted
A

Single inversions

90
Q
  • more than 1 segment
    would be inverted
A

Complex inversions

91
Q
  • both the homologues are inverted
A

Homozygous inversion

92
Q
  • 2 homologue is un-inverted and its companion is inverted
A

heterozygous inversion

93
Q

COMPLEX INVERSIONS

A
  • Independent inversions
  • Direct tandem inversions
  • Reversed tandem inversions
  • Included inversions
  • Overlapping inversions
94
Q
  • Inversions occur in diff. regions of the
    chromosome and they are separated from
    1 another by un-inverted (normal) segment
A

independent inversions

95
Q
  • There are 2 or more inverted segments
    which are directly adjacent to each other,
    i.e., the inverted regions are not separated
    by normal regions
A

Direct tandem inversions

96
Q
  • The 2 inverted segments are adjancent to
    each other but their positions are mutually
    interchanged i.e., g. the first segment lies
    in place of the 2nd an vice versa
A

Reversed tandem inversions

97
Q
  • 1 inversion is confined with another
    inversion, i.e., a segment within an inverted
    segment is inverted again; as a result, the
    2nd inverted segment possesses the normal
    gene sequence for the concerned segment
A

Included inversions

98
Q
  • Such inversions have a common segment,
    i.e., a part of an inverted chromosome
    segment is inverted again together with an
    adjacent segment which was not included
    in the 1st inverted segment
A

Overlapping inversions

99
Q
  • Helps to retain the original gene combination
    by reducing the crossing over frequency
100
Q

enhances the position effect & there
by produces phenotypic changes

101
Q

causes chromosome polymorphism
with in a population leading to karyotype
evolution

102
Q

produces balanced gene complexes
(super genes) though reduction of crossing
over, which in turn confers greater biological
fitness and adaptability & increases the
evolutionary potentiality.

103
Q

is the re-organization of chromosomes through the transfer or change
in position of chromosome segments without
gain or loss of genes.

A

Translocation

104
Q

– change in position of
a segment within a chromosome, either from
one arm to the other or from one location to
another in the same arm.

A

Intrachromosomal Translocation
(Chromosomal shift)

105
Q

Intrachromosomal Translocation
(Chromosomal shift) –

A

o Intraradial
o Extraradial –
o Interchromosomal Translocation
o Transpositional Translocation
o Reciprocal Translocation

106
Q

– translocation from one
location to another in the same arm

A

Intraradial

107
Q

– translocation from one arm
to the other.

A

Extraradial

108
Q

–Transfer of a segment from one
chromosome to other.

A

Interchromosomal Translocation

109
Q

– one way transfer of a chromosome segment from one portion to another in the same
chromosome.

A

Transpositional Translocation

110
Q

– mutual exchange of segments between two
chromosomes.

A

Reciprocal Translocation

111
Q

– Mutual exchange between homologous chromosomes

A

Fraternal Translocation

112
Q

– Mutual exchange
between non-homologous chromosomes

A

External Translocation

113
Q

–intercalary incorporation of a chromosome
segment by transposition.

A

Intercalation or Insertional translocation

114
Q

– Exchanged segments are
asymmetrical, produces a dicentric & an
acentric chromosome

A

Asymmetrical or Aneucentric
Translocation

115
Q

–Exchanged segments are symmetrical,
produces two monocentric chromosomes.

A

Symmetrical or Eucentric Translocation

116
Q

a segment from the orange (donor) chromosome is transferred to the purple (recipient) chromosome without any reciprocal
exchange.

A

insertional translocation

117
Q
  • Translocation which involves the transfer of a
    whole chromosome arm.
A

WHOLE ARM TRANSLOCATION

118
Q

– Two breaks in two acrocentric chromosomes. One break is in the short arm of a chromosome and the other one is in the long arm of the other chromosome. Their subsequent fusion results in a metacentric chromosome.

A

Centric Fusion

119
Q

– It is the reverse process in
which a metacentric chromosome and a sub
metacentric chromosome give rise to two
acrocentric chromosomes.

A

Dissociation

120
Q

– It is the end-to-end fusion
between an acrocentric chromosome and a
metacentric chromosome with the loss of a
centric segment. It produces a double length
acrocentric chromosome.

A

Tandem fusion

121
Q

change the linkage relationships of the genes involved in the affected segments

A

Translocations & Inversions

122
Q

results in unusual linkage,
reduced meiotic recombination, low
viability of chromosomes, familial patterns
of trisomy

A

Translocation

123
Q

is an unbranched
structural abnormality in which the arms of
the chromosome are mirror images of
each other

A

ISOCHROMOSOME

124
Q

is a structural rearranged chromosome generated either by a rearrangement involving two or more chromosomes or by multiple
aberrations within a single chromosome

A

derivative chromosome

125
Q
  • is a chromosome whose arms are fused together to form a ring
  • A structurally abnormal chromosome in
    which the end of ach chromosome arm
    has been lost and the broken arms have
    been reunited to form a ring.
A

ring chromosome

CYTOGENETICS (3 decks)

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