Deck 13: Chromosome Aberrations and Transposition
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Deck 13: Chromosome Aberrations and Transposition
1
AluI is an example of which type of transposable element commonly found in the genome of humans?
A)LINE elements
B)SINE elements
C)P elements
D)Copia elements
E)Ty elements
A)LINE elements
B)SINE elements
C)P elements
D)Copia elements
E)Ty elements
B
2
Heterozygous carriers of chromosome inversions or translocations __________.
A)will be viable and completely fertile because no genes were deleted
B)may or may not exhibit phenotypic abnormalities
C)may be infertile due to complications during meiosis
D)Both A and B are correct
E)Both B and C are correct
A)will be viable and completely fertile because no genes were deleted
B)may or may not exhibit phenotypic abnormalities
C)may be infertile due to complications during meiosis
D)Both A and B are correct
E)Both B and C are correct
E
3
A region of a chromosome on spanning the centromere is broken and reattached in the reverse direction. This is an example of which type of chromosomal defect?
A)paracentric inversion
B)pericentric inversion
C)pericentric translocation
D)dicentric inversion
E)dicentric translocation
A)paracentric inversion
B)pericentric inversion
C)pericentric translocation
D)dicentric inversion
E)dicentric translocation
B
4
What type of aneuploidy is responsible for Turner syndrome in humans?
A)trisomy 13
B)trisomy 18
C)trisomy 21
D)monosomy XO
E)monosomy YO
A)trisomy 13
B)trisomy 18
C)trisomy 21
D)monosomy XO
E)monosomy YO
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5
If a plant is an autotetraploid with the genotype A1A1A2A2, what is the frequency of offspring with the genotype A1A1A1A1 following self-fertilization of the plant?
A)1/2
B)1/4
C)9/16
D)8/36
E)1/36
A)1/2
B)1/4
C)9/16
D)8/36
E)1/36
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6
Which type of chromosome breakage results in a very small deletion that is too small to identify on a karyotype?
A)acentric deletion
B)microdeletion
C)terminal deletion
D)partial deletion
E)interstitial deletion
A)acentric deletion
B)microdeletion
C)terminal deletion
D)partial deletion
E)interstitial deletion
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7
If an organism is an inversion heterozygote, __________.
A)homologous chromosomes align during meiosis through formation of an inversion loop at synapsis
B)homologous chromosomes align during meiosis through formation of a Holliday junction at synapsis
C)non-homologous chromosomes pair during meiosis due to the translocation of genes between two different chromosomes
D)it will experience normal chromosome synapsis during meiosis
E)it will be unable to complete replication due to DNA damage, and the cell cycle will be arrested
A)homologous chromosomes align during meiosis through formation of an inversion loop at synapsis
B)homologous chromosomes align during meiosis through formation of a Holliday junction at synapsis
C)non-homologous chromosomes pair during meiosis due to the translocation of genes between two different chromosomes
D)it will experience normal chromosome synapsis during meiosis
E)it will be unable to complete replication due to DNA damage, and the cell cycle will be arrested
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8
A chromosome has broken, and a piece of one chromosome is translocated to a non-homologous chromosome. This is an example of what type of chromosomal alteration?
A)paracentric inversion
B)dicentric bridge
C)unbalanced translocation
D)Robertsonian translocation
E)inversion loop
A)paracentric inversion
B)dicentric bridge
C)unbalanced translocation
D)Robertsonian translocation
E)inversion loop
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9
A chromosome contains the following gene order: A B C D • E F G H
Which of the following rearrangements represents a paracentric inversion?
A)A B C • D E F G H
B)A F G H • B C D E
C)A C B D • E F G H
D)A F D E • C B G H
E)A B C D • H G F E
Which of the following rearrangements represents a paracentric inversion?
A)A B C • D E F G H
B)A F G H • B C D E
C)A C B D • E F G H
D)A F D E • C B G H
E)A B C D • H G F E
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10
An organism with a genome size of n = 23 experienced a Robertsonian translocation. How many chromosomes would you expect to see in the karyotype of a somatic cell in an affected individual?
A)21
B)25
C)42
D)44
E)46
A)21
B)25
C)42
D)44
E)46
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11
In balanced translocation heterozygotes, which pattern of chromosome segregation produces viable gametes and progeny?
A)adjacent-1 segregation
B)adjacent-2 segregation
C)alternate segregation
D)Adjacent-1 and alternate segregation are both viable.
E)Adjacent-1, adjacent-2, and alternate segregation are all viable.
A)adjacent-1 segregation
B)adjacent-2 segregation
C)alternate segregation
D)Adjacent-1 and alternate segregation are both viable.
E)Adjacent-1, adjacent-2, and alternate segregation are all viable.
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12
Prader-Willi and Angelman syndromes are caused by which type of chromosomal mutations, both in connection with chromosome 15?
A)monosomy
B)trisomy
C)mosaicism
D)uniparental disomy
E)random X-inactivation
A)monosomy
B)trisomy
C)mosaicism
D)uniparental disomy
E)random X-inactivation
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13
In bacteria, what is contained within the IS elements?
A)transposase gene
B)short tandem repeats
C)inverted repeats
D)Both A and B are correct.
E)Both A and C are correct.
A)transposase gene
B)short tandem repeats
C)inverted repeats
D)Both A and B are correct.
E)Both A and C are correct.
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14
What sequences or structures within the DNA can be used to identify sites of transposition?
A)target site duplication and direct repeats
B)target site duplication and short tandem repeats
C)inverted loops
D)target site inversion and direct repeats
E)chromosome translocation and insertion of transposase gene
A)target site duplication and direct repeats
B)target site duplication and short tandem repeats
C)inverted loops
D)target site inversion and direct repeats
E)chromosome translocation and insertion of transposase gene
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15
A chromosome contains the following gene order: A B C D • E F G H
Which of the following rearrangements represents a pericentric inversion?
A)A B C • D E F G H
B)A F G H • B C D E
C)A C B D • E F G H
D)A F D E • C B G H
E)A B C D • H G F E
Which of the following rearrangements represents a pericentric inversion?
A)A B C • D E F G H
B)A F G H • B C D E
C)A C B D • E F G H
D)A F D E • C B G H
E)A B C D • H G F E
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16
When nondisjunction occurs early in embryogenesis rather than gametogenesis, what would you expect in the resulting karyotype?
A)monosomy
B)trisomy
C)mosaicism
D)uniparental disomy
E)random X-inactivation
A)monosomy
B)trisomy
C)mosaicism
D)uniparental disomy
E)random X-inactivation
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17
Which type of chromosome deletion is caused by two concurrent chromosome breaks (rather than a single break)?
A)acentric deletion
B)microdeletion
C)terminal deletion
D)partial deletion
E)interstitial deletion
A)acentric deletion
B)microdeletion
C)terminal deletion
D)partial deletion
E)interstitial deletion
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18
Crossover suppression implies that __________.
A)there are no crossovers between homologous chromosomes
B)recombinant chromosomes are absent in the progeny
C)small inversions have a high frequency of crossover
D)nonreciprocal translocations prevent equal exchange of chromosomes, resulting in loss of chromosome fragments
E)Both A and C are correct
A)there are no crossovers between homologous chromosomes
B)recombinant chromosomes are absent in the progeny
C)small inversions have a high frequency of crossover
D)nonreciprocal translocations prevent equal exchange of chromosomes, resulting in loss of chromosome fragments
E)Both A and C are correct
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19
In an allopolyploid organism, what is true regarding the fertility of interspecies hybrids?
A)Interspecies hybrids are fertile due to nonhomology of chromosomes.
B)Chromosome doubling and nondisjunction in gametocytes can lead to homologous chromosome pairing, disjunction, and fertile hybrids.
C)Interspecies hybrids will be fertile so long as there is an even number of chromosomes in the offspring.
D)Mitotic nondisjunction results in haploid cells.
E)Meiotic nondisjunction produces three haploid gametes and one diploid gamete.
A)Interspecies hybrids are fertile due to nonhomology of chromosomes.
B)Chromosome doubling and nondisjunction in gametocytes can lead to homologous chromosome pairing, disjunction, and fertile hybrids.
C)Interspecies hybrids will be fertile so long as there is an even number of chromosomes in the offspring.
D)Mitotic nondisjunction results in haploid cells.
E)Meiotic nondisjunction produces three haploid gametes and one diploid gamete.
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20
Humans with the condition of familial Down syndrome exhibit which type of chromosomal aberration?
A)chromosome 21 duplication
B)chromosome 21 inversion
C)chromosome 14/21 Robertsonian translocation
D)chromosome 21 deletion
E)trisomy of chromosome 21
A)chromosome 21 duplication
B)chromosome 21 inversion
C)chromosome 14/21 Robertsonian translocation
D)chromosome 21 deletion
E)trisomy of chromosome 21
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21
In Drosophila and Lepidoptera, sex-chromosome mosaicism produces what type of sexually ambiguous phenotype?
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22
What is the name of the chromosomal region, located on region 21q22.2, that was identified by studying individuals with partial trisomy of chromosome 21?
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23
P elements cause which phenomenon responsible for sterility in Drosophila?
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24
What structure, seen during synapsis, is indicative of a chromosome inversion?
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25
How many possible genotypes will there be following self-fertilization of a plant with the B1B1B2B2B3B3 genotype?
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26
During gametogenesis, what percentage of gametes would be aneuploid if the nondisjunction event occurs during meiosis I?
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27
Of the various genetic elements described by McClintock, which one is classified as an autonomous transposable element?
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28
"Seedless" fruits and vegetables have how many chromosomes and what type of chromosomal distribution?
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29
What are the two common patterns of chromosome segregation seen in the tetravalent structures found in translocation heterozygotes?
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30
During gametogenesis, what percentage of gametes would be trisomic if the nondisjunction event occurs during meiosis II?
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31
A partial chromosome deletion or duplication can be observed at prophase I homologous chromosome synapsis during meiosis by looking for what structure?
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32
What two features are consistently seen within retrotransposons?
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33
What effect does a Robertsonian translocation have on chromosome number?
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34
Cri-du-chat syndrome is a human disorder caused by which type of chromosomal defect?
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35
Of the three mechanisms leading to autopolyploidy, which is the most rare event?
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36
Pseudodominance is used to map genes by using what method?
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37
Which enzyme(s)is/are responsible for excising and copying transposable genetic elements from chromosomes and inserting them into new locations?
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38
Gametes produced by inversion heterozygotes can produce no viable recombinant chromosomes due to what phenomenon?
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39
Barbara McClintock identified corn mutants with the unstable mutant phenotype with what pattern of color?
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40
In McClintock's maize studies, which genetic element is found at the site of chromosome breakage?
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41
Describe two mechanisms for causing uniparental disomy, and explain how this chromosomal defect is involved in Prader-Willi syndrome and Angelman syndrome.
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42
How are retroviruses and retrotransposons similar? Describe the genes encoded by the DNA of the retrovirus and the two DNA elements consistently found in retrotransposons.
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43
If you wish to target a retrovirus in a cell but do not want to disrupt retrotransposons, which gene(s)would you target?
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44
The phenomenon of ________ in allopolyploids consists of more rapid growth, increased fruit and flower production, and improved disease resistance.
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45
________ is a genetic phenomenon that occurs when a normally recessive allele is "unmasked" and expressed in the phenotype because the dominant allele on the homologous chromosome has been deleted.
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46
________ is rare and occurs most commonly when repetitive regions of homologous chromosomes misalign, resulting in partial deletions and partial duplications.
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47
P elements in Drosophila contribute to the process of hybrid dysgenesis, which occurs when M-cytotype females are crossed with P-cytotype males.
What does the model of hybrid dysgenesis predict for the F1 and F2 generations when a P-cytotype male is crossed to an M-cytotype female?
What does the model of hybrid dysgenesis predict for the F1 and F2 generations when a P-cytotype male is crossed to an M-cytotype female?
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48
How is aneuploidy different from polyploidy? What are the mechanisms by which aneuploidy and polyploidy are caused, and what are the consequences of these chromosomal alterations in terms of survival and fertility of the offspring?
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49
How might L1 retrotransposons be useful as a potential gene therapy agent? What are the problems with using this strategy for gene therapy?
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50
Provide a description of the cellular mechanisms by which one reciprocal cross leads to hybrid dysgenesis while the other does not.
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51
McClintock's transposable genetic element hypothesis was that the unstable mutant phenotype resulted when a ________ created a mutation by its insertion into the ________ allele and led to reversion when the expression of ________ led to its removal.
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52
Chromosomal translocation involves chromosome breakage and reattachment of the broken segment to a ________.
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53
Compare and contrast the two types of transposable elements found in bacteria. Provide examples of how transposable elements can be both harmful and beneficial to bacteria.
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54
What does the model of hybrid dysgenesis predict for the F1 and F2 generations when an M-cytotype male is crossed to a P-cytotype female?
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