Module 3 Flashcards

(67 cards)

1
Q

The complete set of chromosomes possessed by an organism; usually presented as a picture of a complete set of its metaphase chromosomes and arranged by length (longest to shortest).

A

karyotype

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2
Q

Variations in the number and structure of chromosomes; often affects many genes and has large phenotypic effects.

A

Chromosome mutation

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3
Q

Chromosome mutations that change the structures of individual chromosomes.

A

chromosome rearrangment

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4
Q

Mutation that doubles a segment of a chromosome.

A

chromosome duplication

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5
Q

Chromosome rearrangement in which a duplicated chromosome segment is adjacent to the original segment.

A

tandem duplication

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6
Q

Chromosome rearrangement in which the duplicated segment is some distance from the original segment, either on the same chromosome or on a different one.

A

displaced duplication

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7
Q

Duplication of a chromosome segment in which the sequence of the duplicated segment is inverted relative to the sequence of the original segment.

A

reverse duplication

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8
Q

duplicated chromosome segments larger than 1000 bp

A

segmental duplication

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9
Q

loss of a chromosome segment

A

chromosome deletion

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10
Q

Rearrangement in which a segment of a chromosome has been inverted 180 degrees.

A

chromosome inversion

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11
Q

Chromosome inversion that does not include the centromere in the inverted region.

A

paracentric inversion

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12
Q

Chromosome inversion that includes the centromere in the inverted region.

A

pericentric inversion

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13
Q

Chromatid that has two centromeres; produced when crossing over takes place within a paracentric inversion. The two centromeres of the dicentric chromatid are frequently pulled toward opposite poles in mitosis or meiosis, breaking the chromosome.

A

dicentric chromatid

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14
Q

Chromatid that lacks a centromere; produced when crossing over takes place within a paracentric inversion. The acentric chromatid does not attach to a spindle microtubule and does not segregate in meiosis or mitosis, so it is usually lost after one or more rounds of cell division.

A

acentric chromatid

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15
Q

Movement of genetic material between nonhomologous chromosomes or within the same chromosome.

A

translocation

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16
Q

Movement of a chromosome segment to a nonhomologous chromosome or chromosomal region without any (or with unequal) reciprocal exchange of segments.

A

nonreciprocal translocation

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17
Q

Reciprocal exchange of segments between two nonhomologous chromosomes.

A

reciprocal translocation

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18
Q

Translocation in which the long arms of two acrocentric chromosomes become joined to a common centromere, generating a metacentric chromosome with two long arms and another chromosome with two very short arms.

A

robersonian translocation

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19
Q

Change in the number of individual chromosomes; most often an increase or a decrease of one or two chromosomes.

A

aneuploidy

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20
Q

Possession of more than two sets of chromosomes.

A

polyploidy

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21
Q

Failure of homologous chromosomes or sister chromatids to separate in meiosis or mitosis.

A

nondisjunction

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22
Q

Absence of both members of a homologous pair of chromosomes (2n - 2).

A

nullisomy

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23
Q

absence of one of the chromosomes of a homologous pair

A

monosomy

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24
Q

presence of an extra copy of a chromosome (2n + 1)

A

trisomy

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25
presence of two extra copies of a chromosome (2n + 2)
tetrasomy
26
condition in which all the sets of chromosomes of a polyploid individual are derived from single species
autopolyploidy
27
condition in which all chromosomes of a polyploid individual are from two or more species
allopolyploidy
28
gamete that has a variable number of chromosome; some chromosomes may be missing and others may be present in more than one copy.
unbalanced gametes
29
a mechanism to equalize the amount of protein produced by X-linked genes and autosomal genes. in placental mammals, dosage compensation is accomplished by the random inactivation of one X chromosome in the cells of females.
dosage compensation
30
Chromosome duplications often result in abnormal phenotypes because: a. developmental processes depend on the relative amounts of proteins encoded by different genes. b. extra copies of the genes within the duplicated region do not pair in meiosis. c. the chromosome is more likely to break when it loops in meiosis. d. extra DNA must be replicated, which slows down cell division
a. developmental processes depend on the relative amounts of proteins encoded by different genes
31
a dicentric chromosome is produced when crossing over takes place in an individual heterozygous for which type of chromosome rearrangement? a. duplication b. deletion c. paracentric inversion d. pericentric inversion
c. paracentric inversion
32
what is the outcome of a Robertsonian translocation? a. two acrocentric chromosomes b/ one metacentric chromosome and one chromosome with two very short arms c. one metacentric and one acrocentric chromosome d. two metacentric chromosomes
b. one metacentric chromosome and one chromosome with two very short arms
33
Why are sex-chromosome aneuploidies more common than autosomal aneuploidies in humans and other mammals?
Dosage compensation prevents the expression of additional copies of X-linked genes in mammals, and there is little information in the Y chromosome, so extra copies of the X and Y chromosomes do not have major effects on development. In contrast, there is no mechanism of dosage compensation for autosomes and so extra copies of autosomal genes are expressed, upsetting development and causing the spontaneous abortion of aneuploid embryos.
34
Species A has 2n = 16 chromosomes and species B has 2n = 14. How many chromosomes would be found in an allotriploid of these two species? a. 21 or 24 b. 42 or 48 c. 22 or 23 d. 45
c. 22 or 23
35
what are the four types of rearrangements?
duplications, deletions, inversions, translocations
36
when the duplicated segment incorporates next to the original corresponding segment.
tandem duplication
37
when the duplicated segment incorporates next to the original corresponding segment but in the reverse order.
reverse duplication
38
when the duplicated segment incorporates in a location on the same chromosome that is not adjacent to the original segment.
displaced duplication
39
mutation in which a part of a chromosome is lost or missing.
chromosome deletion
40
a segment of a chromosome is turned 180 degrees.
chromosome inversion
41
inversion that does not include the centromere
paracentric inversion
42
inversion that does include the centromere
pericentric inversion
43
when parts of chromosomes move to other nonhomologous chromosomes or to other regions of the same chromosome.
translocation
44
classes of translocations
nonreciprocal, reciprocal and Robertsonian
45
genetic material moves from one chromosome to another without any reciprocal exchange.
nonreciprocal translocation
46
there is a two-way exchange of segments between the chromosomes.
reciprocal translocation
47
However, it is common for deletions to result when a translocation occurs, particularly when two acrocentric chromosomes are involved.
Robertsonian translocation
48
change in the number of individual chromosomes.
aneuploidy
49
increase in the number of chromosome sets.
polyploidy
50
loss of both members of a homologous pair
nullisomy
51
loss of a single chromosome
monosomy
52
gain of a single chromosome
trisomy
53
game of two homologous chromosomes
tetrasomy
54
When can aneuploidy occur
1. A chromosome may be lost during either mitosis or meiosis. If the centromere was deleted, the spindle microtubules would no longer be able to attach and move the chromosomes to their correct end destination. 2. The small chromosome produced after a Robertsonian translocation has taken place is lost during mitosis or meiosis. 3. Nondisjunction occurs, in which the homologous chromosomes or sister chromatids fail to separate in mitosis or meiosis.
55
all chromosomes sets are from a single species
autopolyploidy
56
hybridization between two species
allopolyploidy
57
Chromosome duplications often result in abnormal phenotypes because
developmental processes depend on the relative amounts of proteins encoded by different genes.​
58
A dicentric chromosome is produced when crossing over takes place in an individual heterozygous for which type of chromosome rearrangement?
paracentric inversion
59
What is the outcome of a Robertsonian translocation?
one metacentric chromosome and one chromosome with two very short arms
60
Species A has 2n = 16 chromosomes and species B has 2n = 14. How many chromosomes would be found in an allotriploid of these two species?
22 or 23
61
Which is NOT a type of chromosomal mutation?
point mutation
62
Can chromosome duplications cause negative effects to an organism? Why?
Yes. Duplicated regions increase gene dosage, which affects processes like development that require specific amounts of protein.
63
Which is NOT an effect of chromosomal translocations?
Translocations can cause regions of the chromosome to be duplicated.
64
Trisomy and monosomy can be a product of nondisjunction in:
meiosis I and II, and mitosis
65
Aneuploids of which chromosomes are less likely to result in a live birth?
larger autosomes
66
A diploid species has a total of 52 chromosomes. How many chromosomes would be found in a monosomy, trisomy, and autotriploid?
51, 53, 78
67
One species has 32 chromosomes and another species has 24 chromosomes. In an allotriploid of these two species, how many chromosomes would there be?
44 or 40