chapter 10 part 1 Flashcards

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1
Q

Chromosomes do not occupy the same territory in each nucleus, they are found in _______

A

territories

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2
Q

_________ domains are regions between the chromosome territories

A

inter-chromosomal

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3
Q

Interchromosomal domains are channels for movement of _______, _______, _______

A

proteins
enzymes
RNA molecules

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4
Q

What is a karyotype?

A

the number and visual appearance of the chromosomes

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5
Q

_______ uses molecular probes labeled with fluorescence to detect their target sequence

A

In situ hybridization (FISH)

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6
Q

What does p stand for on a chromosome?

A

short arm

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7
Q

What does q stand for on a chromosome?

A

long arm

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8
Q

_______: the centromere is near the middle of the chromosome

A

metacentric

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9
Q

_______: the centromere is between the center and the tip

A

submetacentric

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10
Q

_______: the centromere is close to one end

A

acrocentric

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11
Q

_______: the centromere is at the tip of the chromosome and there is no p arm

A

telocentric

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12
Q

________: a piece of DNA without a centromere

A

acentric

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13
Q

Compare heterochromatin and euchromatin:
1) condensation
2) silenced and expressed genes
3) type of staining
4) repitition of DNA

A

1) heterochromatin more condensed than euchromatin
2) hetero silenced (methylated), eu expressed (acetylated)
3) hetero = dark, eu = light
4) hetero = more repetitive, eu = less repetitive

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14
Q

The standard for human chromosome banding is _______; the patterns are distinct and reproducible

A

G (Giemsa) banding

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15
Q

What does 1q3.2.3 tell you

A

chromosome 1, arm q, region 3.2.3

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16
Q

_______ is the failure of homologous chromosomes or sister chromatids to separate as they normally do during cell division

A

chromosome nondisjunction

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17
Q

Nondisjunction in meiosis I results in:

A

2 (n+1) gametes
2 (n-1) gametes
- all gametes are affected

18
Q

Nondisjunction in meiosis II results in:

A

1 (n+1) gamete
1 (n-1) gamete
2 normal gametes

19
Q

changes in _______ lead to an imbalance of gene products from the affected chromosome relative to the unaffected chromosome

A

gene dosage

20
Q

What are the 3 autosomal aneuploidy diseases?

A

1) trisomy 13 (patau)
2) trisomy 18 (edward)
3) trisomy 21 (down)

21
Q

What is the term for the sex-chromosome aneuploidy XXY?

A

Klinefelter’s syndrome

22
Q

What is the term for the sex-chromosome aneuploidy XYY?

A

Jacob syndrome

23
Q

What is the term for the sex-chromosome aneuploidy XXX?

A

triple X syndrome

24
Q

What is the term for the sex-chromosome aneuploidy XO?

A

Turner syndrome

25
Q

_______ occurs due to the presence of the anomalous extra isochromosome 12p

A

Pallister-Killian syndrome

26
Q

An _______ is an unbalanced structural abnormality in which the arms of the chromosome are mirror images of each other

A

isochrome

27
Q

Pallister-Killian syndrome leads to the development of _______

A

tetrasomy 12p

28
Q

Because not all cells have the extra isochromosome, Pallister-Killian syndrome is a _______ condition

A

mosaic

29
Q

Research has identified a link between the risk of trisomy 21 and _______

A

maternal age

30
Q

a portion of the chromosome called the _______ can be correlated with the majority of the Down syndrome symptoms

A

DSCR (down syndrome critical region)

31
Q

A candidate gene _______, known to produce dosage-sensitive learning defects in mice and flies, makes a major contribution to Down syndrome

A

DYRK

32
Q

In XO embryos, the single copy of the gene _______, which is not inactivated by dosage compensation, is insufficient to direct normal development (what in particular?)

A

SHOX
infertility (sterile)

33
Q

_______ can develop as a result of mitotic nondisjunction early in embryogenesis
- 25% of Turner syndrome cases are the result of this with 46 XX cells, 45 XO, and 47 XXX

A

mosaicism

34
Q

A rare abnormality, _______ sometimes occurs in humans, and is when both copies of a homologous chromosome are from the same parent

A

Uniparental Disomy (UPD)

35
Q

In a process called _______, one copy of the trisomy chromosome is randomly ejected in one of the first mitotic division after fertilization. If the two copies retained by the zygote are from the same parent, _______ results

A

trisomy rescue
uniparental disomy

36
Q

_______ is the presence of three or more whole sets of chromosomes in the nucleus of an organism

A

polyploidy

37
Q

Polyploidy that results from duplication of chromosome sets within a species is called _______

A

autopolyploidy

38
Q

Polyploidy that results from duplication of chromosome sets of different species is called _______

A

allopolyploidy

39
Q

Allopolyploidy involves sets of partially homologous chromosomes called _______ and results in _______ the amount of chromosomes

A

homeologous
double

40
Q

_______ wanted plant with cabbage leaves and radish roots

A

G. Karpechenko

41
Q

_______: an interspecific hybrid having a complete diploid set from each parent form

A

amphidiploid