Lecture 9 Flashcards

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1
Q

A segment of a chromosome is missing as the result of two breaks and loss of the intervening piece.

A

deletion

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2
Q

Two breaks occur in the same chromosome with rotation of the intervening segment.

A

inversion

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3
Q

both the breaks are on the same side of the centromere,

A

paracentric inversion

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4
Q

opposite sides

A

pericentric inversion

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5
Q

metaphase chromosomes are trypsin-giemsa stained, then examined microscopically. Fairly inexpensive and easy procedure, but some translocation such as t(12;21)(p13;q22) [TEL/AML1] are not visible this way

A

g banding

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6
Q

: Fluorescence in-situ hybridization. Large DNA probes unique for specific chromosomes that are tagged with fluorescent dyes are hybridized to metaphase chromosomes. Alterations are visible under fluorescent microscope.

A

FISH

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7
Q

Spectral karyotyping. Each chromosome is “painted” a unique color and alterations can be easily visualized. Very expensive and technically difficult.

A

SKY

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8
Q

to examine alterations in the gene structure. Need to know the genes involved first (cloned).

A

southern blot

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9
Q

for specific DNA breakpoints formed by chromosomal translocation. Need to know DNA sequence and specific breakpoint first.

A

PCR

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10
Q

process of creating new blood cells in the body.

A

hematopoiesis

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11
Q

two lineages of hematopoietic stem cells

A

lymphoid and myeloid

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12
Q

t cells and b cells

A

lympoid

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13
Q

RBC, platlets, monocytes, basophils, eosinophils, neutrophils macrophages

A

myeloid

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14
Q

the disease presents suddenly, aches, constant fever and the disease has a rapid course

A

acute

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15
Q

the transformed cells originated from primary lymphiod tissues (bone marrow or thymus).

A

leukemia

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16
Q

the transformed cells originated from secondary lymphiod tissues (spleen, lymph-nodes etc…)

A

lymphoma

17
Q

slow course of disease, these often go undiagnosed until routine physical or blood donation

A

chronic

18
Q

malignant blood diseased can be classified according to (3)

A
  • clinical course
  • lineage
  • primary site
19
Q

according to clinical course

A

chronic or acute leukemia

20
Q

according to lineage

A

lymphoid: B or T
myeloid: myeloproliferative diseases: quantitative abnormalities
Mylodysplastic diseases: qualitative anbnomalities
Acute myeloid leukemia

21
Q

myeloproliferative diseases

A

quantitative abnormalities

22
Q

mylodysplastic diseases:

A

qualitative abnormalities

23
Q

according to primary site

A

leukemia

lymphoma

24
Q

originates in bone marrow and pgoes to peripheral blood

A

leukemia

25
Q

originates in lymph nodes or spleen, invades bone marrow and blood

A

lymphoma

26
Q

A gene is brought into proximity of a regulatory region and is thus inappropriately expressed.

A

gene activation

27
Q

Two different genes fuse in-frame producing a novel chimeric gene (usually transcription factors).

A

gene fusion

28
Q

example of gene activation

A

burkitt lymphoma

29
Q

example of gene fusion

A

CML

30
Q

prognosis: chronic phase, followed by a blast crisis, acute transformation

A

chronic myeloid leukemia

31
Q

ch. 22 shorter (Philadelphia chromosome)

fusion of BCR and ABL (enhance kinase activity)

A

chronic myeloid leukemia

32
Q

t(9;22)(q32;q11)

A

chronic myeloid leukemia (CML)

33
Q

a specific kinase inhibitor which inhibits the BCR/ABL kinase resulting in death of the CML cells.

A

imatinib/gleevec

34
Q

AML1/ETO fusion exhibits a dominant negative effect by preventing transactivation of CBF target genes

t(8;21)(q22;q22)

A

acute myeloid leukemia

35
Q
  • translocates the Bcl-2 gene (18q21) into the IgH locus (14q32), bringing Bcl-2 under the control of the IgH enhancer resulting in constitutive expression of Bcl-2 in B-lineage cells. Bcl-2 is a pro-survival member of the Bcl-2/BAX family of apoptotic regulatory genes.

t(14;18)(q32;q21)

A

non hodkins lymphoma