Chapter 1

Question 1

The coding sequence, which dictates protein sequences, is contained within

Answer 1

Exons

Question 2

Mutations in genes encoding components of the telomere complex are associated with the bone marrow failure syndrome

Answer 2

Dyskeratosis congenita

Question 3

The spliceosome is a large complex of proteins and five

Answer 3

Small nuclear ribonuclear proteins (snRNPs)

Question 4

What are the 3 splicing factor mutations found in approximately 50% of patients with MDS?

Answer 4

SF3B1, U2AF1, SRSF2

Question 5

DNA sequences that lie in proximity to and regulate the expression of genes, which encode protein, are termed

Answer 5

Cis-acting regulatory elements

Question 6

A special type of enhancer is locus control region (LCR), which is located approximately 50 kilobases upstream from this gene.

Answer 6

Beta-globin

Question 7

In addition to being complexed with protein, the DNA of inactive genes is modified by the addition of methyl groups to

Answer 7

Cytosine residues

Question 8

The addition of methyl groups to cytosine residues of inactive genes results in

Answer 8

5-methylcytosine (5mC)

Question 9

Is methylation generally a marker of an active or inactive gene?

Answer 9

Inactive

Question 10

DNA methylation is performed by enzymes called

Answer 10

DNA methyltransferases

Question 11

When genes are ______, they are usually heavily methylated in contrast to the nonimprinted copy of the allele.

Answer 11

Imprinted

Question 12

When genes are imprinted, they are usually heavily ______ in contrast to the nonimprinted copy of the allele.

Answer 12

Methylated

Question 13

Hematopoietic stem cells display an age-related decline in function and a relative loss of lymphoid differentiation potential, and these changes are associated with site-specific changes in

Answer 13

DNA methylation

Question 14

Hematopoietic stem cells display an age-related decline in function and a relative loss of ______ differentiation potential, and these changes are associated with site-specific changes in DNA methylation.

Answer 14

Lymphoid differentiation

Question 15

Mutations in enzymes affecting DNA methylation, most notably the DNA methyltransferase ______ are common in AML.

Answer 15

DNMT3A

Question 16

Mutations in DNMT3A are found in approximately ______ of AML patients.

Answer 16

20%

Question 17

What are the 3 major enzymes affecting DNA methylation that are recurrently mutated in AML?

Answer 17

DNMT3A, TET2, IDH1/2

Question 18

Small molecule inhibitors of DNA methyltransferases are used in the treatment of disorders that are characterized by aberrant DNA methylation such as

Answer 18

MDS, AML

Question 19

What are the 2 major small molecule inhibitors of DNA methyltransferases?

Answer 19

5-azacitidine, decitabine

Question 20

Histones are DNA packaging proteins that organize DNA into structural units called

Answer 20

Nucleosomes

Question 21

Hypoacetylation of these 2 histones is associated with silencing of the cell cycle regular p21, a gene whose expression is reduced in multiple tumor types.

Answer 21

H3, H4

Question 22

Hypoacetylation of histones H3 and H4 is associated with silencing of the cell cyle regulator

Answer 22

p21

Question 23

These are the enzymes that remove acetyl groups from histone tails.

Answer 23

Histone deacetylases (HDACs)

Question 24

Aberrant expression levels of histone deacetylases (HDACs) are common in ______ malignancies.

Answer 24

Hematologic

Question 25

This is the first HDAC inhibitor.

Answer 25

Vorinostat AKA SAHA (Zolinza)

Question 26

Oncogenes arise from mutations in their normal counterparts termed

Answer 26

Proto-oncogenes

Question 27

Translocation between the BCR gene on chromosome 9 and the ABL1 proto-oncogene on chromosome 22 concerns constitutive

Answer 27

Activation of ABL1

Question 28

Li-Fraumeni syndrome results from inherited mutations in the cell cycle regulator

Answer 28

TP53

Question 29

In the case of some tumor suppressor genes, loss of just one copy of a gene is known as

Answer 29

Haploinsufficiency

Question 30

Haploinsufficiency of the ribosomal gene RPS14 in this syndrome leads to aberrant ribosomal protein function and a block in erythroid differentiation.

Answer 30

5q- syndrome

Question 31

Haploinsufficiency of the ribosomal gene ______ in 5q- syndrome leads to aberrant ribosomal protein function and a block in erythroid differentiation.

Answer 31

RPS14

Question 32

Haploinsufficiency of the ribosomal gene RPS14 in 5q- syndrome leads to aberrant ribosomal protein function and a block in

Answer 32

Erythroid differentiation

Question 33

DNA can be visualized using gel electrophoresis by staining with

Answer 33

Ethidium bromide

Question 34

This technique is a modification of PCR that allows the detection and amplification of expressed RNA transcripts.

Answer 34

Reverse transcriptase PCR (RT-PCR)

Question 35

This is the most commonly used method for quantitative PCR.

Answer 35

Real-time PCR

Question 36

This PCR technique is used to measure minimal residual disease and to monitor the clearance of BCR/ABL transcriptions in patients treated with tyrosine kinase inhibitors.

Answer 36

Real-time PCR

Question 37

The technique of molecular hybridization is the basis for ______ blotting.

Answer 37

Southern

Question 38

This technique is analogous to Southern blotting, but it involves electrophoresis of RNA with subsequent transfer and hybridization to a probe.

Answer 38

Northern blotting

Question 39

______ blotting detects the presence of a gene or its integrity.

Answer 39

Southern

Question 40

______ blotting detects the level of expression of a gene within a specific cell type.

Answer 40

Northern

Question 41

______ blotting detects proteins.

Answer 41

Western

Question 42

t(15;17) is considered pathognomonic of

Answer 42

Acute promyelocytic leukemia (APL)

Question 43

The major advantage of FISH is that it can analyze known cytogenetic abnormalities in ______ cells.

Answer 43

Nondividing cells (interphase nuclei)

Question 44

MYC translocations are associated with

Answer 44

Burkitt lymphoma

Question 45

CCND1 translocations are associated with

Answer 45

Mantle cell lymphoma