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Cytogen FINALS > chromosomal karyotype > Flashcards

chromosomal karyotype Flashcards

1
Q

Diagnoses disorders from a missing/additional chromosome

A

chromosomal karyotype

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2
Q

General structures of cells containing DNA

A

chromosome

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3
Q

Constricted portion = impt. for mitosis/cell division

A

centromere

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4
Q

short arm

A

p arm

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5
Q

long arm

A

q arm

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6
Q

Photographic arrangement of a complete set of chromosomes of a cell/organism

A

karyotype

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7
Q

Sample taken from the FLUID of the AMNIOTICsac

A

amniocentesis

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8
Q

sample taken from the FETAL TISSUE that forms part of the PLACENTA

A

Chorionic villus sampling

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9
Q

traditional types of staining

A

g-banding - Giemsa Stain
q-banding - Fluorescent Stain
r-banding - Reverse Giemsa Stain

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10
Q

Used for mutagenic study

A

classic method

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11
Q

For detection of numerical & structural chromosome abnormalities in clinical cytogenetics

A

banding methods

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12
Q

Denaturation (Trypsin) of chromosomal parts (Proteins)

A

g-bands

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13
Q

g-bands: dark stain

A

AT

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14
Q

g-bands: pale bands

A

GC

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15
Q

→ Saline solutions at high temperature = denatures proteins
→ Used to detect centromere/telomere parts

A

r-bands

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16
Q

r-bands: dark bands

A

gc

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17
Q

r-bands: pale bands

A

AT

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18
Q

→ Strong denaturation of euchromatic parts

A

c-banding

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19
Q

combination –> Denatures euchromatin and Leaves heterochromatin = stains dark

A

hcl or ba(oh) + saline sol. at high temp

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20
Q

For study of heterochromatic variants

A

c-banding

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21
Q

Stops mitosis in metaphase

A

colcemid/colchicine

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22
Q

added in culture medium to stimulate mitosis

A

phytohemagglutinin

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23
Q

fish means

A

fluoresence in situ hybridization

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24
Q

Technique that hybridizes a DNA NUCLEI ACID PROBE to a target DNA sequence contained w/in
a cell nucleus

A

FISH

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25
Q

Attached to a microscope slide using standard cytogenetic methods

A

intact cells

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26
Q

Nucleic acid that can be labeled w/ a marker

A

probe

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27
Q

Will hybridize (bind) to another NA on the basis of base complementarity

A

probe

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28
Q

radioactive

A

32P, 35S, 14C, 3H

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29
Q

Biotinylated

A

Avidin-streptavidin

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30
Q

Used to view chromosomes in METAPHASE of mitosis

A

LIGHT MICROSCOPE

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31
Q

Binds covalently to the specific specimen DNA

A

fish probe dna

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32
Q

Have specificity for a single human chromosome arm

A

telomeric parts

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33
Q

Contains a locus estimated to be w/in 300kb of the end of the chromosome

A

telomeric parts

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34
Q

Hybridized probe fluoresces w/ bright intensity along the LENGTH OF THE CHROMOSOME

A

WCP or Chromosome Painting Probes

35
Q

in CEP, most are ?

A

alpha and satellite III probes

36
Q

Centromere regions stained brighter = rich in A-T bonds

A

CEP or Chromosome Enumerator Probes

37
Q

Deletion probes
Translocation probes
Gene detection & localization
Gene Amplification Probes

A

LSI or Locus Specific Identifiers

38
Q

Can provide ‘‘colorized’’ information
relative to chromosome rearrangements

A

Multi Color FISH

39
Q

Useful in specimens where chromosome
preparations are LESS THAN OPTIMAL for
standard banding analysis

A

MULTI COLOR FISH

40
Q

FISH Procedure

A

denature chromosomes
denature probes
hybridization
fluorescence staining
examine slides or store in the dark

41
Q

Formation of a DUPLEX b/w 2 complementary SEQUENCES

A

Nucleic Acid Hybridization

42
Q

b/w 2 POLYNUCLEOTIDE chains w/ complementary BASES

A

Intermolecular Hybridization

43
Q

Describes the hybridization of 2 complementary MOLECULES

A

ANNEALING

44
Q

Probe & Target DNA are denatured together; Faster, easier, & safer hybridization

A

HYBRite (Automated hybridization)

45
Q

Remains attached to the DNA during hybridization

A

Fluorescent molecule

46
Q

Labeled w/ a colored fluorescent molecule

A

DNA probe

47
Q

fluorescent molecule emits a particular color when viewed through?

A

FLUORESCENCE MICROSCOPE equipped w appropriate filter sets

48
Q

FISH results in

A

<24 hours (colored)

49
Q

Karyotypoing results in

A

7-10 days (pale/dark bands)

50
Q

Amplifies a particular piece of DNA

A

polymerase chain reaction (PCR)

51
Q

pcr was invented in

A

1984

52
Q

Laboratory version of DNA Replication in cells

A

pcr

53
Q

PCR: occurring in a living cell

A

IN VIVO in dna replication

54
Q

PCR: occurs in a test tube = OUSTIDE human body

A

IN VITRO

55
Q

Copying of DNA; Participated by more than 12 enzymes & proteins

A

DNA Replication in Cells (IN VIVO)

56
Q

how many DNA strand is used as a template for goriwng a new DNA strand

A

1 DNA strand (semi-conservative)

57
Q

Double helix made up of nucleotides

A

DNA

58
Q

nucleotide is made up of

A

sugar + phosphate _nitrogenous base

59
Q

DNA backbone on the outside of the helix

A

sugar-phosphate backbone

60
Q

In nucleotide, 2 DNA strands are held together by

A

nitrogenous base pairs

61
Q

2 DNA strands are attached to each other by

A

hydrogen bonds

62
Q

uses each strand as a template to synthesize new DNA strands

A

dna polymerase

63
Q

dna polymerase catalyzes the elongation of DNA by adding ? to the ?

A

nucleoside triphosphate at the 3’ end of the growing strand

64
Q

composition of the nucleoside triphosphate

A

1 sugar +1 base + 3 phosphates

65
Q

what happens when nucleoside joins the DNA strand?

A

2 phosphates are removed

66
Q

2 DNA strands are antiparallel

A

dna ligase

67
Q

leading stran

A

3’

68
Q

lagging strand is synthesyzed in

A

okazaki fragments

69
Q

→ Enzyme that can start an RNA chain from scratch

A

primase

70
Q

→ Untwists the 2 parallel DNA strands

A

helicase

71
Q

Relieves the stress of twisting

A

topoisomerase

72
Q

→ Binds & stabilizes unpaired DNA strands

A

single strand dna molecules

73
Q

Contains the target sequence to be copied

A

dna

74
Q

Heat-stable DNA Polymerase

A

TAQ polymerase

75
Q

TAQ DNA poly came from the sprin bacterium ?

A

thermus aquaticus

76
Q

Serve as primers

A

2 Short, Single-stranded DNA Molecules

77
Q

Device that can change temperatures dramatically in a very short period of time

A

thermal cycler

78
Q

basis of pcr

A

temperature changes and its effects on DNA

79
Q

temp denature dna

A

95C

80
Q

temp primers anneal

A

40-65

81
Q

temp extension or primer extension

A

72C

82
Q

3 main steps in PCR

A

Denature DNA
Primers anneal
DNA polymerase adds nucleotides to the 3’ end of the primers

83
Q

Short single stranded DNA molecules

A

Primers

84
Q

Nitrogenous bases in DNA

A

ATGC

Cytogen FINALS (2 decks)

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