Final - Cytogenetics Flashcards

1
Q

Clinical role of cytogenetics

A
  • cytogenetics identifies chromosomal anomalies that may be associated with disease which contributed to the diagnosis and treatment of patients
  • two categories of abnormalities = numerical and structural
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2
Q

Clinical specimens used in cytogenetics

A
  • blood
  • bone marrow
  • tissue
  • amniotic fluid
  • chorionic villi
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3
Q

Specimen Preparations for Karyotyping

A
  1. Obtain sterile sample, transport biopsies on ice
  2. Alliquot into medium
  3. CO2 incubation
  4. Use of mitogen to encourage cell division and mitotic inhibitor to collect cells at metaphase
  5. Harvest via hypotonic solution to lyse cells
  6. Fix cells on slide
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4
Q

Histone

A
  • an alkaline protein that package and order DNA into structural units = nucleosomes
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5
Q

Non-histone protein

A
  • protein that remains after histones have been removed

ex: scaffold protein

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6
Q

Centromere

A
  • a region of a chromosome to which spindle fibers attach during cell division.
  • the location of a centromes gives a chromosome its characteristic shape.
  • p = short arm, q= long arm
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7
Q

telomere

A
  • short repeated DNA sequences located at each end of chromosomes
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8
Q

nucleosome

A
  • a bead-like structure composed of histone proteins wrapped with DNA
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9
Q

metacentric

A
  • centromere positioned in the middle of chromosome (centrally placed)
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10
Q

submetacentric

A
  • describes a chromosome whose centromere is placed closer to one end than the other
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11
Q

acrocentric

A
  • centromere placed very close to, but not at, one end
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12
Q

telocentric

A
  • centromere located at the terminal end of the chromosome
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13
Q

3 criteria to classify and identify chromosomes

A
  1. Size
  2. Position of centromere
  3. Banding pattern
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14
Q

G-banding

A
  • darkly stained G bands
  • metaphase spreads are treated with trypsin and stained with Giemsa stain
  • observed with light microscope
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15
Q

Q- banding

A
  • bright flourescent bands under UV light same as darkly stained G bands
  • uses chemical quinacrine mustard
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16
Q

C-banding

A
  • darkly stained C band centromeric region of the chromosome corresponds to region of constitutive heterochromatin
  • extract DNA from arms only so that when it is stained with Giemsa stain and observed under microscope, the centromere is stained.
17
Q

Nomenclature

  • Normal Female
  • Normal Male
  • Mosaic
  • trisomy 13
  • monosomy 8
  • sex chromosome anomalies
  • deletions
  • additions
  • translocations
  • inversions
A
  • # of chromosome, sex chromosomes

Normal Female: 46, XX
Normal Male: 46, XY
Mosaic: 45, X / 46, XX

Numerical anomalies-
trisomy 13: 47, XX, +13
monosomy 8: 45, XY, -8
sex chromosome anomalies: 45, X or 47, XXY

Structural anomalies-

deletions: 46, XX, del (4) (p 13.2)
additions: 46, XY, dup (11) (q11.2 q11.3)
translocations: 46, XY, t (4;9) (q21.2; p22)
inversions: 46, XY, inv (9) (p11 q21.1)

18
Q

Nondisjunction

A
  • the failure of homologous chromosomes to seperate properly during meiosis / mitosis
19
Q

Aneuploidy

A
  • gain/loss of chromosome equaling less than one complete complement
  • ex: trisomy, monosomy
20
Q

Trisomy

A
  • 2n +1

- 3 copies of the same chromosome

21
Q

Monosomy

A
  • 2n -1

- 1 copy of a chromosome

22
Q

Euploidy

A
  • multiples of one complete chromosome complement
  • haploid (n), diploid (2n), triploid (3n), tetraploid (4n)
  • normal condition
23
Q

Polyploidy

A
  • a chromosomal number that is a multiple of the normal haploid chromosomal set
24
Q

Down syndrome
Patau syndrome
Edwards syndrome

A
  • trisomy 21
  • trisomy 13
  • trisomy 18
25
Q

Structural anomalies

A
  • deletion
  • duplication
  • translocation
  • inversion
26
Q

Deletion

A
  • loss of a part of a chromosome leads to partial monosomy

- terminal or interstitial

27
Q

Duplication

A
  • additional copy of a chromosome segment
  • results in partial trisomy
  • terminal or interstitial
28
Q

Translocation

A
  • equal exchange involving segment with respect to the normal gene arrangment
29
Q

Inversion

A
  • reversal of a chromosomal segment with respect to the normal gene arrangment
  • pericentric or paracentric