Lecture 9

Question 1

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

Answer 1

deletion

Question 2

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

Answer 2

inversion

Question 3

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

Answer 3

paracentric inversion

Question 4

opposite sides

Answer 4

pericentric inversion

Question 5

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

Answer 5

g banding

Question 6

: 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.

Answer 6

FISH

Question 7

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

Answer 7

SKY

Question 8

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

Answer 8

southern blot

Question 9

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

Answer 9

PCR

Question 10

process of creating new blood cells in the body.

Answer 10

hematopoiesis

Question 11

two lineages of hematopoietic stem cells

Answer 11

lymphoid and myeloid

Question 12

t cells and b cells

Answer 12

lympoid

Question 13

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

Answer 13

myeloid

Question 14

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

Answer 14

acute

Question 15

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

Answer 15

leukemia

Question 16

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

Answer 16

lymphoma

Question 17

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

Answer 17

chronic

Question 18

malignant blood diseased can be classified according to (3)

Answer 18

• clinical course
• lineage
• primary site

Question 19

according to clinical course

Answer 19

chronic or acute leukemia

Question 20

according to lineage

Answer 20

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

Question 21

myeloproliferative diseases

Answer 21

quantitative abnormalities

Question 22

mylodysplastic diseases:

Answer 22

qualitative abnormalities

Question 23

according to primary site

Answer 23

leukemia

lymphoma

Question 24

originates in bone marrow and pgoes to peripheral blood

Answer 24

leukemia

Question 25

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

Answer 25

lymphoma

Question 26

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

Answer 26

gene activation

Question 27

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

Answer 27

gene fusion

Question 28

example of gene activation

Answer 28

burkitt lymphoma

Question 29

example of gene fusion

Answer 29

CML

Question 30

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

Answer 30

chronic myeloid leukemia

Question 31

ch. 22 shorter (Philadelphia chromosome) | fusion of BCR and ABL (enhance kinase activity)

Answer 31

chronic myeloid leukemia

Question 32

t(9;22)(q32;q11)

Answer 32

chronic myeloid leukemia (CML)

Question 33

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

Answer 33

imatinib/gleevec

Question 34

AML1/ETO fusion exhibits a dominant negative effect by preventing transactivation of CBF target genes t(8;21)(q22;q22)

Answer 34

acute myeloid leukemia

Question 35

- 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)

Answer 35

non hodkins lymphoma