Midterms Flashcards

1
Q

Division of somatic cells (nonreproductive cells) in eukaryotic organisms.

A

Mitosis

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2
Q

Three Major Events of Prophase

A
  1. Chromosome condense
  2. Spindle fibers form
  3. Chromosomes are captures by spindle fibers
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3
Q

Mitotic spindle contains 3 main types of fibers:

A
  1. Polar fiber
  2. Kinetichore fiber
  3. Astral fiber
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4
Q

chromosomes align along the equator of the cell, with one chromatid facing each pole.

A

Metaphase

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5
Q

sister chromatids separate

A

Anaphase

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6
Q

spindle fibers attached to kinetochores

A

shorten and pull

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7
Q

free spindle fibers

A

Lengthen and push

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8
Q

spindle fibers disintegrate

• nuclear envelopes form around both groups of chromosomes

• chromosomes revert to their extended state

• cytokinesis occurs, enclosing each daughter nucleus into a separate cell

A

Telophase

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9
Q

undergo cytokinesis by forming a cell plate between the two daughter nuclei.

A

plant cells

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10
Q

undergo cytokinesis through the formation of a cleavage furrow. A ring of microtubules contract, pinching the cell in half.

A

animal cells

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11
Q

spindle fibers attach to the centromere during mitosis
- represent a constricted region (primary constriction) where 2 identical sister chromatids are most closely in contact
- act as the site of assembly of the kinetochore

A

Centromere

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12
Q

p arm is ___

A

short

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13
Q

q arm is ___

A

long

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14
Q

a region of repetitive nucleotide sequences at each end of a chromatid,
- its shortening is associated with aging, cancer and a higher risk of death

A

telomere

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15
Q

when pulled to one pole during cell division, it appears V-SHAPED

A

Metacentric

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16
Q

when pulled to one pole during cell division, it appears L-SHAPED

A

Submetacentric

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17
Q

when pulled to one pole during cell division, it appears J-SHAPED

A

Acrocentric

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18
Q

when pulled to one pole during cell division, it appears I-SHAPED

A

Telocentric

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19
Q

process of pairing and ordering all the chromosomes of an organism, thus providing a genome-wide snapshot of an individual’s chromosomes

A

Karyotyping

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20
Q

allows each chromosome to be identified by its characteristic banding pattern

A

G-banding

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21
Q

centromere banding results from the alkali treatment of chromosome are associated with heterochromatin along the chromosomes and around the centromeres

A

C-banding

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22
Q

the first applications of molecular techniques to chromosome slide preparations identify and locate specific nucleic acid sequences inside cells or on chromosomes

A

In Situ Hybridization (ISH)

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23
Q

the hybridization was visualized using ___________, which had been applied to human chromosomes

A

Autoradiography

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24
Q

involves the use of a nonradioactive probe (such as biotin) for indirect labeling through nick translation

A

Fluorescence In Situ Hybridization (FISH)

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25
Q

the hybridization between DNA probe and target sequence could be visualized through ______ or ________ fluorescent labeling

A

avidin or streptavidin

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26
Q

Involves the hybridization of labeled DNA probe in situ chromosomal target

A

Metaphase FISH

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27
Q

accomplished by ultraviolet light excitement of a fluorochrome, such as fluorescein-5-thiocynate (FITC) or tetramethyl rhodamine isothiocyanate (TRITC), which is attached directly to probe DNA, or by incubation of hapten-labeled probe with a fluorescent conjugate

A

Probe detection

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28
Q

a fluorescent stain used extensively in fluorescence microscopy.

A

DAPI (40,6-diamidino-2-phenylindole)

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29
Q

commonly used in the study of the prenatal samples, tumors, and hematological malignancies

A

Interphase FISH

30
Q

For deciphering cytogenetic aberrations that are difficult to resolve on morphological grounds, such as marker chromosomes of uncertain nature or complex changes

A

Whole Chromosome Painting / WCB Probes

31
Q

can be used in the analysis of sperm chromosome segregation in a man who is heterozygous for an uncommon Robertsonian translocation

A

Whole Chromosome Painting/WCB Probes

32
Q

hybridize to alpha (or beta) satellite repeat sequences within the specific centromeric regions of each chromosome and are used for chromosomal enumeration

A

Centromeric Enumeration Probes/CEP

33
Q

used to detect gene rearrangements, dual-color translocation probes and dualcolor break-apart probe

A

Locus-Specific Identifier /(LSI) Probes

34
Q

designed to detect chromosomal translocations involving known partner genes

A

dual-color translocation probes

35
Q

are useful for detecting chromosomal translocations that involve genes with unknown or multiple translocation partners

A

dual-color break-apart probes

36
Q

it combines binary ratio labeling and color-changing karyotyping

A

MFISH

37
Q

Offer the capacity to hybridize simultaneously 24 or more DNA probes, based on simultaneous hybridization of 24 chromosome specific painting probes labeled with different combinations of five fluorochromes

A

MFISH

38
Q

is based on the principles of spectral imaging and Fourier spectroscopy

A

SKY

39
Q

a high-resolution molecular cytogenetic technique for the analysis of metaphase chromosomes

A

Multicolor Banding

40
Q

involves the microdissection of chromosomal loci to obtain a set of probes that produce multicolor pseudoG-banding

A

Multicolor Banding

41
Q

an efficient approach to genome-wide screening for chromosomal copy number changes (gains/duplications and losses/deletions)

A

Comparative Genomic Hybridization (CGH)

42
Q

involving the substitution of the hybridization targets, the metaphase chromosomes, with genomic DNA sequences adhered onto glass slides has increased the resolution for detecting copy number changes in the human genome, and this has led to more detailed information about genomic gains and losses

A

Array CGH

43
Q

caused by abnormalities in the number or the structure of chromosomes and cytogenetic karyotyping is a standard practice to identify all chromosomal disorders

A

Chromosomal disorders

44
Q

arises from fertilization of an egg by two sperm (total number of chromosomes increases to 69) or the failure in one of the divisions of either the egg or the sperm so that a diploid gamete is produced. The survival of such a fetus to full-term pregnancy is rare.

A

Polyploidy

45
Q

occurs when the chromosome

number is not an exact multiple of the haploid number and results from the failure of paired chromosomes (at first meiosis) or sister chromatids (at second meiosis) to separate at anaphase. Thus, two cells are produced, one with a missing copy of a chromosome and one with an extra copy of that chromosome.

A

Aneuploidy

46
Q

an abnormality that displays an extra copy (total of three copies) of chromosome 21

A

Trisomy 21

47
Q

one of the most frequent congenital birth defects, and the most common genetic cause of mental retardation

A

Down syndrome

48
Q

the presence of three copies of chromosome 18, elicits Edward syndrome

A

Trisomy 18

49
Q

Patau Syndrome

A

Trisomy 13

50
Q

most pregnancies end in miscarriage, and only 5% of infants with this disorder survive past their first year

A

Trisomy 13/Patau Syndrome

51
Q

results from the absence or nonexpression of a group of genes on chromosome 15

A

Prader-Willi Syndrome

52
Q

the most common disorder of sex chromosomes in humans.

A

Sex chromosomal aneuploidy (SCA)

53
Q

an example of monosomy, in which a girl is born with only one sex chromosome, an X chromosome

A

Turner Syndrome

54
Q

is characterized by short stature and ovarian dysgenesis, together with a broad range of other phenotypic characteristics, including an increased risk for heart and renal defects

A

Turner syndrome

55
Q

a type of monosomy, where boys and men are born with an extra X chromosome

A

Klinefelter syndrome

56
Q

results from a mutation that confers new or enhanced activity on a protein

A

gain-of-function variant

57
Q

is a change in the structure of a gene that can arise during DNA replication; is not inherited from a parent, nor can it be passed to an offspring

A

Somatic mutation

58
Q

results from a point mutation that leads to reduced or abolished protein function

A

loss-of-function variant

59
Q

occur when a portion of a chromosome is missing or removed

A

Deletion

60
Q

result from the copying of a portion of a chromosome more than once, producing extra genetic material

A

Duplication

61
Q

Deletion and Duplications are known as

A

Copy number variations or CNVs

62
Q

DNA segments from two different chromosomes are exchanged as in the case of Burkitt’s lymphoma (BL)

A

Translocation

63
Q

a heterogeneous group of highly aggressive mature B-cell malignancies. It is characterized by a high rate of turnover of malignant cells and deregulation of the c-myc gene.

A

Burkitt’s Lymphoma

64
Q

results when a portion of a chromosome is broken off, turned upside down, and reattached

A

Inversion

65
Q

results in cells with half the number of usual chromosomes, 23 instead of the normal 46. These are the eggs and sperm.

A

Meiosis

66
Q

produces two cells that are duplicates (46 chromosomes each) of the original cell. This kind of cell division occurs throughout the body, except in the reproductive organs.

A

Mitosis

67
Q

Genetic Abbv.
t

A

translocation

68
Q

del

A

deletion

69
Q

r

A

ring chromosome

70
Q

i, iso

A

isochrome

71
Q

der

A

derivative chromosome