Chromosomal Karyotype Flashcards

1
Q

Diagnoses disorders from a missing/additional chromosome

A

Chromosomal Karyotype

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2
Q

Chromosome Labeling

A

n (p/q) r.b

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3
Q

Sample taken from the fluid of the amniotic sac

A

Amniocentesis

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4
Q

Sample taken from the fetal tissue that forms part of the placenta

A

Chorionic Villus Sampling

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5
Q

What phase of mitosis are chromosomes viewed under Light Microscopy

A

Metaphase

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6
Q

Traditional types of staining

A

G-Baning
Q-Banding
R-Banding

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7
Q

Classic method of staining

A

Homogenous staining by Giemsa

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8
Q

Dark stained bands in G-bands

A

Adenine-Tyrosine

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9
Q

Pale stained bands in G-bands

A

Guanine-Cytosine

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10
Q

Dark stained bands in R-bands

A

Guanine-Cytosine

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11
Q

Pale stained bands in R-bands

A

Adenine-Tyrosine

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12
Q

Transcriptionally inactive part of chromosome

A

Telomere

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13
Q

Transcriptionally active part of chromosome

A

Euchromatin

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14
Q

Dark stained in C-banding

A

Resistant heterochromatin

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15
Q

Pale stained in C-banding

A

Euchromatin parts

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16
Q

Stops mitosis in metaphase

A

Colcemid / Colchine

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17
Q

Stimulate mitosis when making a Karyotype

A

Phytohemagglutinin

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18
Q

Technique that hybridizes a DNA nuclei acid probe to a target DNA sequence contained w/in a cell nucleus

A

Fluorescence In-Situ Hybridization

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19
Q

Nucleic acid that can be labeled w/ a marker used for identification & quantitation

A

Probe

20
Q

Part of DNA/RNA that is complementary to certain sequence on target DNA

A

Probe

21
Q

Combination of Phase & Plasmid DNA

A

Cosmid

22
Q

Amplification of certain segment of chromosomal DNA

A

PCR-product

23
Q

Biotinylated is also labeled as

A

Avidin-Streptavidin

24
Q

Probe that has specificity for a single human chromosome arm

A

Telometric Probe

25
Q

Hybridized probe fluoresces w/ bright intensity along the length of the chromosome

A

Whole Chromosome Painting

26
Q

Probe that makes centromere regions stained brighter

A

Chromosome Enumerator Probe

27
Q

Formation of a duplex b/w 2 complementary sequences

A

Nucleic Acid Hybridization

28
Q

b/w 2 polynucleotide chains w/ complementary bases

A

Intermolecular Hybridization

29
Q

Example of machine for Automated Hybridization

A

HYBrite

30
Q

FISH results time

A

< 24hrs

31
Q

Karyotyping results time

A

7- 10 days

32
Q

PCR was invented in what year

A

1984

33
Q

Laboratory version of DNA Replication in cells

A

Polymerase Chain Reaction

34
Q

Occurs outside the body

A

In Vitro

35
Q

Occurs within the body

A

In Vivo

36
Q

Catalyzes the elongation of DNA by adding nucleoside triphosphates to the 3’ end of the growing strand

A

DNA Polymerase

37
Q

Enzyme that can start an RNA chain from scratch

A

Primase

38
Q

Untwists the 2 parallel DNA strands

A

Helicase

39
Q

Relieves the stress of twisting

A

Topoisomerase

40
Q

Taq DNA Polymerase is purified from what hot spring bacterium

A

Thermus Aquaticus

41
Q

Size of DNA fragment produced in PCR is dependent on what?

A

Primers

42
Q

DNA of interest is amplified by power of # for each PCR cycle

whats #?

A

2

43
Q

HD gene has a pattern called trinucleotide repeats w/ ‘‘CAG’’ occurring in repetition <30 times

A

Non-HD Individuals

44
Q

'’CAG’’ trinucleotide repeat occurs >36 times

A

HD Individuals

45
Q

Mutations in the cystic fibrosis transmembrane conductance regulator (CTFR) gene

A

Cystic Fibrosis

46
Q

codes for a protein that is a chloride ion channel

A

Cystic Fibrosis Transmembrane Conductance Regulatory gene

47
Q

Application of PCR in Forensic Science

A

Paternity Suits