Chapter 10-test 2 Flashcards

(56 cards)

1
Q

Chromosome condensation reaches a

A

maximum at metaphase

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2
Q

Fluorescent in situ hybridization

A
  • uses molecular probes to detect a target sequence; sequences may be gene-specific
  • labeled w/ compounds that emit fluorescent light
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3
Q

Multiple genes can be contained in

A

each chromosome band. 1 human band: 1milli-10milli

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4
Q

euchromatin

A

Regions that contain actively expressed genes and are less condensed. lightly stained regions.

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5
Q

heterochromatin

A

Regions that contain many fewer expressed genes and are tightly condensed. darkly stained regions.

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6
Q

Nondisjunction

A

failure of chromosomes and sister chromatids to properly separate
•abnormalities in chromosome #
• abnormalities affect phenotype in animals, less in plants

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7
Q

number of chromosomes in a nucleus for males and

females of a species?

A

the same

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8
Q

euploid number

A

number of complete sets (e.g., n, 2n, 3n)

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9
Q

aneuploid

A

If cells have a # of chromosomes that aren’t euploid. (one or more extra or missing chromosomes) cause: chromosome nondisjunction.

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10
Q

result of nondisjunction in germ-line cells

A

aneuploid gametes that can produce aneuploid zygotes

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11
Q

nondisjunction in meiosis I means

A

failure of homologs to separate; the gametes are n + 1 or n - 1

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12
Q

Fusion of these gametes with normal (n) gametes produces

A

trisomic (2n + 1) or monosomic (2n - 1) offspring

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13
Q

Among the four gametes produced by meiosis

A

only two will be affected. ( 2 will be normal (n) and the other 2 will be n + 1 and n - 1)

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14
Q

Blakeslee and Belling (1913) studied aneuploidy in the jimson weed (Datura stramonium; 2n = 24)

A

identified 12 phenotypically distinct lines

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15
Q

gene dosage

A

of copies of a gene; aneuploidy alters dosage of all genes on affected chromosome

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16
Q

Changes in gene dosage lead to an

A

imbalance of gene products

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17
Q

Most animals are highly sensitive to

in contrast,

A
  • changes in gene dosage

- plants tolerate gene dosage changes more readily

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18
Q

Changes to chromosome structure

A

caused by chromosome breakage or other events. may lead to loss or gain of chromosome segments or partial deletion or duplication

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19
Q

chromosome break point

A

When a chromosome breaks, both DNA strands are severed.broken chromosome ends can stick to each other, to other broken ends, or termini of intact chromosomes

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20
Q

terminal deletion

A

Detachment of all or part of one chromosome arm.broken fragment contains a telomere and additional genetic material.

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21
Q

acentric

A

lacks centromere. If a broken chromosome fragment is acentric, it may be lost during cell division

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22
Q

interstitial deletion

A

loss of an internal portion of a chromosome, and results from two chromosome breaks
• observed in many organisms, including humans

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23
Q

unequal crossover

results in

A

takes place between two homologs

partial duplication on one homolog and partial deletion on the other

24
Q

partial duplication heterozygote

A

organism with one normal and one duplication homolog

25
partial deletion heterozygote
organism with one normal and one deleted homolog
26
Unequal crossover does not occur often
occurs when regions of homologs misalign
27
Microdeletions and microduplications
are much smaller and not easily detected with banding analysis. instead use FISH.
28
Sometimes chromosome breakage leads to
reattachment of the wrong broken ends
29
chromosome inversion
Reattachment in the wrong orientation
30
chromosome translocation (Translocation heterozygotes) if no
reattachment to a nonhomologous chromosome - critical genes are mutated, and dose-sensitive genes remain in balance, there may be no phenotypic conseq. - may experience semisterility due to segregation abnormalities
31
meiotic complications may affect
chromosome segregation and fertility
32
paracentric inversion
the centromere is outside of the inverted region
33
pericentric inversion
the centromere is within the inverted region
34
Inversion heterozygotes
have one normal and one inverted homolog
35
probability of crossover within inversion loop depends on
size of inversion loop
36
crossover in inversion loop results:
2 viable gametes (normal chromosome) | 2 nonviable gametes (inversion chromosome)
37
Nonreciprocal (unbalanced) translocations
piece of one chromosome is translocated to a nonhomolog and there's no reciprocal event
38
Reciprocal balanced translocations
pieces of two nonhomologs switch places
39
Robertsonian translocations or chromosome fusion
fusion of two nonhomologous chromosomes
40
Chromatin organization is important for
- proper function and distribution of chromosomes in cell division - plays an important role in regulation of gene expression in eukaryotic cells
41
eukaryotic chromosomes could not fit
in nucleus without compaction. Each chromosome is approx half DNA and half protein
42
histone proteins
About half of the proteins are histone proteins, small basic proteins that tightly bind DNA
43
nonhistone proteins
remaining proteins. diverse and perform diff tasks in the nucleus
44
how many histone proteins in chromatin?
5 (H1, H2A, H2B, H3, and H4)
45
Nucleosome core particles
contains two molecules each of the four histones H2A, H2B, H3, and H4 (octomer)
46
nucleosome
DNA ~146 bp long (core DNA) wraps around each octamer
47
Nucleosome Assembly
- H2A and H2B assemble into dimers; H3 and H4 also form dimers - Two H3-H4 dimers form a tetramer, then two H2A-H2B dimers associate with it to form octamer - wrapping of DNA around the octamer=1st level of dna condensation, compacts dna sevenfold.
48
10-nm fiber
Electron micrographs of chromatin in its least condensed state. “beads-on-a-string” morphology (“beads” are nucleosomes)
49
linker DNA
variable-length “string” between nucleosomes
50
30-nm fiber
in vitro conditions. forms when the 10-nm fiber coils into solenoid structure, w/ 6-8 nucleosomes per turn and histone H1 stabilizing solenoid
51
When lysines in histone tails are neutralized | by methylation, gene expression
increases, because chromatin becomes less compact
52
30 nm fiber turns into
300 nm fiber, turns on axis, forms 700 nm fiber.
53
Aneuploidy can cause phenotypes associated with
increase/decrease of gene expression, defects in gene formation.
54
chromosome 13, 18, 21
only trisomies seen in humans. humans are sensitive to gene dosage changes. (only a region of chromosome 21 causes down syndrome)
55
DSCAM
s associated with formation of heart and nervous system
56
How can a translocation or an inversion have phenotypic consequences for a cell ?
It can place a gene under control of a new enhancer