Deck 38: Molecular Analysis of Hematologic Diseases

Question 1

Choose the correct statement regarding molecular oncology from the choices below.

A)The genes responsible for tumor formation are oncogenes.
B)Molecular testing is needed for cancer diagnosis.
C)Molecular testing is not sensitive for monitoring minimal residual disease.
D)All genetic mutations responsible for cancer can be identified by molecular techniques.

Answer 1

The genes responsible for tumor formation are oncogenes.

Question 2

Name and compare two molecular methods that are used to detect mutations associated with sickle-cell disease.

Answer 2

Two molecular methods that can be used to detect the mutation associated with sickle-cell disease are Southern Blot analysis and PCR.Southern Blot: Restriction endonucleases cut the chromosomal DNA of the suspected sickle patient at a specific nucleotide base to produce smaller fragments of DNA.A probe specific for the HBB gene the gene responsible for SCD) is applied and targeted to the specific sequence.If the aberrant gene is present, it will show up as a band on 2D-gel.Qualitative: present or absent.)
PCR: Similar procedure to Southern Blot analysis, but at the end, the targeted DNA sequence is amplified a billionfold.

Question 3

Which of the following methods would be most useful for identifying point mutations anywhere in the DNA segment?

A)Southern Blot analysis
B)PCR
C)DNA sequencing
D)FISH

Answer 3

DNA sequencing

Question 4

Mutations responsible for the onset of lymphoid leukemias and lymphomas are typically associated with:

A)Antigen receptor genes.
B)Receptors for oncogenes.
C)Specific chromosomal translocations.
D)CD marker alterations.

Question 5

Which of the following is associated with chronic myelogenous leukemia?

A)BCR/ABL1 fusion gene
B)t(15;17)
C)t(8,14)
D)PML/RAR fusion gene

Question 6

A 23-year-old female is admitted to the local hospital with a deep vein thrombosis.Besides initial laboratory workup, which of the following should be included to investigate possible causes of the DVT?

A)PCR for sickle-cell mutation
B)FV and prothrombin mutations
C)BCR/ABL1 fusion gene mutation
D)TCR gene mutations

Question 7

Explain the impact of a positive test for HTLV-1 in a lymphoma patient.

Question 8

Explain the central dogma of molecular biology using proper nomenclature.Define each phase.

Question 9

A Hodgkin lymphoma patient is admitted for treatment.What would be the benefit in performing an EBV-DNA test on him?

A)It would identify the cause of the Hodgkin lymphoma.
B)Since the patient is immunocompromised, it would identify an opportunistic pathogen.
C)It would help monitor the efficacy of his treatment.
D)It would help rule out other types of lymphomas.

Question 10

What is RNA?

A)A fundamental substance of heredity that cells use to catalog, express, and propagate information
B)A messenger molecule that translates the DNA code to induce protein production
C)The functional unit comprised of amino acids
D)Proteins translated from DNA

Question 11

Inherited diseases are characterized by:

A)Sex-linked mutations that are expressed only in females.
B)Acquired mutations that are detected only in affected organs.
C)Lack of correlation between genotype and disease status among family members.
D)A genetic defect that is generally present in all tissues of the patient's body.

Question 12

In reference to detecting minimal residual disease, which of the following is true?

A)PCR, karyotyping and Southern blot analysis are equally sensitive and specific.
B)PCR is most sensitive for detecting low levels of tumor burden.
C)Karyotyping is capable of detecting 0.1% tumor burden.
D)Southern Blot analysis has 100% sensitivity and specificity for detecting aberrant proteins formed as a result of the genetic mutation.

Question 13

Which of the following assays would be most appropriate for monitoring minimal residual disease?

A)Karyotyping
B)Southern Blot analysis
C)PCR
D)All of the above

Question 14

Explain why molecular testing is essential not only in identifying disorders, such as cancer, but also during the course of a disease.

Question 15

Give the advanatgaes of PCR over Southern Blot and advantages of Southern Blot over PCR.