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Genetics and genomes > W2PRAC - CYTOGENETICS I. > Flashcards

W2PRAC - CYTOGENETICS I. Flashcards

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Biology 101 flashcards
1
Q

[Slide 60] Femal blood smear, MGG
-> Identify

A

Barr body (drumstick) in netrophil granulocyte
(inactive X)

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2
Q

Where can we find Barr body in neurons?

A

In neurons: Barr body (drumstick) found near to the nucleolus (nucleolar satellite)

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3
Q

Drumstick in neuron
-> Identify

A

1: Barr body (drumstick)
2: nucleus
3: nucleolus

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4
Q

STUDY OF CHROMOSOMES IN M-PHASE (METAPHASE)
1. What are the 2 types of chromosome preparation?

A
  1. Direct preparation
    from in-vivo dividing cells (e.g. bone marrow cells, tumor cells, intestinal epithelial cells, cell lines, chorion/amnion cells)
  2. Indirect preparation
    - From in vivo non-dividing cells (G0), they divide after in vitro stimulation (e.g. Peripheral blood mononuclear cells)
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5
Q

STUDY OF CHROMOSOMES IN M-PHASE (METAPHASE)
2. Describe indirect chromosome preparation

A
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6
Q

STUDY OF CHROMOSOMES IN M-PHASE (METAPHASE)
3. What are Karyogram and Karyotype?

A
  • Karyogram describes the chromosome constitution of a cell
  • Karyotype describes the chromosome constitution of an organism
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7
Q

STUDY OF CHROMOSOMES IN M-PHASE (METAPHASE)
4. Describe the structure of metaphase chromosome

A
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8
Q

STUDY OF CHROMOSOMES IN M-PHASE (METAPHASE)
5. Describe grouping of chromosomes according to arm ratio/centromeric position

A
  1. Metacentric
  2. Submetacentric
  3. Acrocentric
  4. Telocentric (not in human)
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9
Q

STUDY OF CHROMOSOMES IN M-PHASE (METAPHASE)
6. Describe Karyotyping

A

Counting the chromosome
– 22 pairs of somatic chromosomes (autosomes) + 1 pair of sex chromsomes

Grouping of autosomes from A to G groups
– Relative length of chromosomes: 122 autosomes
– Stucture of chromosomes: arm ratio / centromeric position – Number of NOR (nucleolar organizing region)

Sex chromosomes are listed usually at the end of the karyogram

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10
Q

STUDY OF CHROMOSOMES IN M-PHASE (METAPHASE)
7. What is happening in red square in this human karyotype?

A

Acrocentric chromsome with satellite

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11
Q

STUDY OF CHROMOSOMES IN M-PHASE (METAPHASE)
8A. Describe BANDING TECHNIQUES

A
  1. For identification of individual chromosomes and chromosomal aberrations
  2. Each chromosome pair stains in a characteristic pattern of alternating light (or pale) and dark (or bright) bands
  3. These banding patterns are specific for individual chromosomes
  4. Resolution ~ 5-10 Mb
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12
Q

STUDY OF CHROMOSOMES IN M-PHASE (METAPHASE)
8B. What are the 5 types of banding techniques?

A

– Q-banding
– G-banding
– R-banding
– C-banding
– NOR-silver staining

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13
Q

STUDY OF CHROMOSOMES IN M-PHASE (METAPHASE)
8C. Describe G-banding

A
  1. Giemsa staining after chromosome denaturation
  2. For routine chromosome investigations G banding is usually preferred
  3. A-T rich regions are dark, since it is involved in scaffold (SAR) attachment (Giemsa intensively stains SAR)
  4. The G-banding pattern is corresponding almost exactly to the Q-banding pattern
  5. Q+ (bright) = G+ (dark); Q- (dim) = G- (light)
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14
Q

STUDY OF CHROMOSOMES IN M-PHASE (METAPHASE)
9. CYTOGENETIC BANDING NOMENCLATURE
=> What does p22.1 in this figure mean?

A

X chromsome, short arm, region 2,
band 2 subband 1

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15
Q

STUDY OF CHROMOSOMES IN M-PHASE (METAPHASE)
10. What is the process of FISH = FLUORESCENT IN SITU HYBRIDIZATION

A
  1. Probe with fluorescent label: Specific for a gene,
    or chromosome region or for a chromosome
  2. Works for interphase nuclei and metaphase chromosome spreads
  3. Resolution a few hundred bp
  4. For detection of numerical and structural chromosome aberrations
  5. Disadvantage: only defined, pre-selected region can be detected
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16
Q

STUDY OF CHROMOSOMES IN M-PHASE (METAPHASE)
11. Describe MULTICOLOUR-FISH (M-FISH)

A
  • 24 different chromosome specific probes, each being labeled with one of five fluorochromes or a unique combination (combinatorial labeling).
  • Simultaneous presentation of all 24 different human chromosomes within a single hybridization experiment.
17
Q

FACULTATIVE
1. What does this slide indicate?

A

APPLICATION OF CHROMOSOME SPECIFIC PROBES

18
Q

FACULTATIVE
2. APPLICATION OF CHROMOSOME SPECIFIC PROBES
=> What does red, green, blue, white, yellow indicate?

A

PGD
(Preimplantation genetic diagnostics) normal male blastomere.
Red: 21,
Green: 13,
Blue: 18, White: Y, Yellow: X

19
Q

FACULTATIVE
3. What does this figure indicate?

A

NOR = NUCLEOLAR ORGANIZER REGION (contains repetitive sequences=rDNA)

20
Q

FACULTATIVE
4. What does this figure indicate?

A

C-MYC DETECTION (FISH)
-> Normal human cell (lymphocyte) stained with the dual color FISH probe.

Genetics and genomes (19 decks)

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