

Diagnostic Molecular Pathology
Chapter Exam Questions
Course Introduction
Diagnostic Molecular Pathology is a course that explores the application of molecular biology techniques in the diagnosis and management of human diseases. Students will learn about the principles and methodologies of molecular diagnostics, including PCR, next-generation sequencing, and molecular cytogenetics, as well as their roles in identifying genetic mutations, infectious agents, and biomarkers relevant to pathology. The course covers the integration of molecular testing in clinical practice, quality control, result interpretation, and the ethical considerations in molecular diagnostics, preparing students to work in modern diagnostic laboratories and to understand the dynamic relationship between molecular research and patient care.
Recommended Textbook
Molecular Diagnostics Fundamentals Methods and Clinical Applications 2nd Edition by Lela Buckingham
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2

Chapter 1: DNA
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Sample Questions
Q1) Restriction endonucleases are enzymes that are produced by bacteria and __________.
A) degrade viral proteins
B) digest DNA
C) have no laboratory applications
D) degrade lipids
Answer: B
Q2) In DNA replication, the leading strand is the strand that has which orientation?
A) 5'to 3'
B) 3'to 5'
C) Both strands are leading.
Answer: B
Q3) DNA replication proceeds with the new daughter strand synthesized in the following orientation:
A) 5'to 3'
B) 3'to 5'
C) The daughter strand is not synthesized in any order.
D) Either 5'to 3'or 3' to 5'
Answer: A
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Page 3

Chapter 2: RNA
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Sample Questions
Q1) When gene expression is regulated by mechanisms other than the interaction of cis elements and trans factors, the regulation is called:
A) Induction
B) Epigenetics
C) Attenuation
D) Combinatorial control
Answer: B
Q2) Synthesis of DNA guided by a RNA template is:
A) Translation
B) DNA replication
C) Transcription
D) Reverse transcription
Answer: D
Q3) Which of the following is required for termination of transcription in bacteria?
A) DNA polymerase
B) Sigma
C) Rho
D) PolyA signal
Answer: C
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Page 4

Chapter 3: Proteins
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Sample Questions
Q1) Protein structure characterized by the combination of different proteins that all together are required for protein function is which level of protein structure?
A) Primary
B) Secondary
C) Tertiary
D) Quaternary
Answer: D
Q2) The set of nucleotides in mRNA that encode one amino acid is called a(n):
A) Codon
B) Gene
C) Anticodon
D) Chromosome
Answer: A
Q3) Which of the following describes the general structure of an amino acid?
A) Planar carbon-nitrogen ring with deoxyribose sugar
B) Pentose sugar bound to phosphate and purine or pyrimidine base
C) Central carbon with carboxyl group, amino group, hydrogen, and a side chain
D) Polymer of molecules bound together by a peptide bond
Answer: C
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Page 5

Chapter 4: Nucleic Acid Extraction Methods
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Sample Questions
Q1) What is the yield of DNA from a sample with concentration of 280 \(\mu\)g/mL and a volume of 0.5 mL?
A) 70 \(\mu\)g
B) 140 \(\mu\)g
C) 280 \(\mu\)g
D) 560 \(\mu\)g
Q2) Isolated DNA has an absorbance at 260 nm of 0.268 and an absorbance at 280 nm of 0.191. What is the 260 nm/280 nm ratio?
A) 1:2
B) 1:4
C) 1:6
D) 1:8
Q3) Which of the following is the first step in DNA isolation from cells in a clinical sample?
A) DNA precipitation
B) Precipitation of proteins
C) Lysis of cells
D) Eluting DNA from a spin column
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Chapter 5: Resolution and Detection of Nucleic Acids
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Sample Questions
Q1) Which of the following molecules will migrate fastest in capillary electrophoresis?
A) Large and positively charged
B) Small and positively charged
C) Large and negatively charged
D) Small and negatively charged
Q2) To separate a mixture of oligonucleotides with a resolution between bands of 1 bp, which of the following methods should be used?
A) Contour-clamped homogeneous electric field
B) Rotating gel electrophoresis
C) Polyacrylamide gel electrophoresis
D) Traditional agarose gel electrophoresis
Q3) A molecular biologist is to separate and analyze a mixture of nucleic acids that are about 100,000 bp in size. Which of the following methods will yield the best results?
A) Capillary electrophoresis
B) Rotating gel electrophoresis
C) Polyacrylamide gel electrophoresis
D) Traditional agarose gel electrophoresis
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Chapter 6: Analysis and Characterization of Nucleic Acids and Proteins
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Q1) The microarray or chip is an example of which of the following blotting procedures?
A) Southern blot
B) Dot blot
C) Reverse dot blot
D) Western blot
Q2) Which of the following conditions are the least stringent?
A) 40% formamide, 1X SSC (salt), 50<sup>o</sup>C
B) 50% formamide, 1X SSC, 55<sup>o</sup>C
C) 50% formamide, 0.5X SSC, 55<sup>o</sup>C
D) 40% formamide, 0.2X SSC, 60<sup>o</sup>C
Q3) The specificity of western blots depends on what interaction?
A) DNA/RNA complementarity
B) RNA/RNA complementarity
C) DNA antigens
D) Antigen/antibody recognition
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Chapter 7: Nucleic Acid Amplification
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Sample Questions
Q1) Which of the following PCR controls ensures that the reaction mix is not contaminated with amplicons from a previous PCR procedure and must not have a PCR product detected in order to be valid?
A) Positive control
B) Sensitivity control
C) Reagent blank
D) Amplification control
Q2) What type of PCR starts with an RNA template?
A) Real-time PCR
B) Multiplex PCR
C) Reverse transcriptase PCR
D) Sequence-specific PCR
Q3) Real-time PCR differs from standard PCR in which way?
A) Standard PCR is faster.
B) Real-time PCR is less sensitive.
C) Real-time PCR is quantitative.
D) Standard PCR is more specific.
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Chapter 8: Chromosomal Structure and Chromosomal Mutations
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Sample Questions
Q1) Before its conversion to a microarray technique, CGH was performed by hybridizing labeled DNA to what support?
A) Immobilized PCR products
B) Normal chromosome spread
C) Nitrocellulose membrane
D) Agarose gel
Q2) A polymorphism is distinguished from a mutation in what way?
A) Its frequency in a given population
B) The size of the genetic region involved
C) The severity of effect on phenotype
D) Associations with other genetic events
Q3) What is a phenotype?
A) The structure of a gene
B) A trait resulting from gene transcription and translation
C) The nucleotide sequence responsible for a genotype
D) A change in the gene structure
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Chapter 9: Gene Mutations
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Sample Questions
Q1) ELISA is based on what earlier method first used to detect insulin in plasma?
A) PCR
B) Northern blot
C) RIA
D) EIA
Q2) Which of the following methods used to detect mutations is a sequencing (polymerization)-based method?
A) Restriction fragment length polymorphisms
B) Single-strand conformation polymorphisms
C) Dideoxy DNA fingerprinting
D) Invader assay
Q3) The codon UGG is mutated to UGA. What will happen to the encoded protein?
A) The encoded protein will be larger than the protein encoded by the original sequence.
B) The encoded protein will be prematurely terminated.
C) The encoded protein will be more hydrophilic.
D) The encoded protein will not be affected.
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Chapter 10: DNA Sequencing
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Q1) Which of the following is the most widely used method of DNA sequencing in clinical laboratories today?
A) Pyrosequencing
B) Maxam-Gilbert sequencing
C) Sanger sequencing
D) Array sequencing
Q2) An analysis that takes place in silico is happening in which of the following places?
A) Computer
B) Laboratory
C) Biological organism
D) Tissue
Q3) Sequencing ladders resolved by gel electrophoresis are read in which of the following directions?
A) Top to bottom
B) Bottom to top
C) Across lanes
D) Diagonally
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12

Chapter 11: DNA Polymorphisms and Human Identification
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Sample Questions
Q1) STR analysis is performed on bone marrow donor-recipient pairs prior to transplantation for which of the following reasons?
A) To determine whether the donor and recipient are a match
B) To determine the likelihood of graft-versus-host disease
C) To find informative alleles for post-transplantation studies
D) To add their STR haplotypes to a national database
Q2) How many loci are considered core loci by the Federal Bureau of Investigation in the Combined DNA Indexing System?
A) 10
B) 12
C) 13
D) 16
Q3) Two peaks from different sources falling within a bin describe what relationship?
A) Different alleles
B) Identical alleles
C) Paternity
D) Exclusion
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Chapter 12: Detection and Identification of Microorganisms
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Sample Questions
Q1) Which is a flow cytometry test?
A) Hybrid capture
B) NASBA
C) TMA
D) HPV OncoTect
Q2) Which virus does not share sequence homology with the others?
A) JC
B) BK
C) HCV
D) SV40
Q3) Which of the following typing methods is an RNA test?
A) Plasmid analysis
B) Ribotyping
C) PCR-RFLP
D) PFGE
Q4) Which of the following targets are used to type molds?
A) ITS
B) 16s RNA
C) ERIC
D) REP
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Chapter 13: Molecular Detection of Inherited Diseases
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Sample Questions
Q1) Which of the following is a genetic storage disease in which sulfatides accumulate inside the lysosomes?
A) Tay-Sachs
B) Niemann-Pick
C) Gaucher's
D) Pseudo-Hurler polydystrophy
Q2) Seventeen members of an extended family have a gene mutation. Only two of them have the associated phenotype. What is the term for this observation?
A) Complete penetrance
B) Mosaicism
C) Autosomal dominant inheritance
D) Incomplete penetrance
Q3) What defines a congenital disease?
A) Always heritable
B) Present at birth
C) Limited to blood disorders
D) Symptoms delayed until puberty
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Chapter 14: Molecular Oncology
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Sample Questions
Q1) A patient with a family history of breast cancer wants to know her risk of having breast cancer. Which of the following genes should be analyzed in this patient?
A) BRCA1
B) Von Hippel-Lindau
C) N-myc
D) K-ras
Q2) Fusions of FKHR and the paired box genes (PAX3 and PAX7) are frequently found in what tumors?
A) Adenoma
B) Synovial sarcoma
C) Adenocarcinoma
D) Rhabdomyosarcoma
Q3) A patient is suspected of having follicular lymphoma, and his physician would like additional laboratory tests performed to confirm or rule out the diagnosis. Which of the following tests should be performed?
A) T-cell receptor gene rearrangement clonality
B) t(9;22) translocation
C) t(14;18) translocation
D) t(11;14) translocation
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Page 16

Chapter 15: DNA-Based Tissue Typing
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Sample Questions
Q1) A set of alleles on the same chromosome is called which of the following?
A) Polymorphism
B) Aneuploid
C) Haplotype
D) Histocompatibility
Q2) Which of the following molecular-based methods can be used to perform HLA typing?
A) Southern blot
B) Sequencing
C) Single-strand conformation polymorphism
D) Pulsed field gel electrophoresis
Q3) Which is the term for recognition of two or more antigens by the same antibody?
A) Synonymous
B) Ambiguity
C) Nonsense
D) Null
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Chapter 16: Quality Assurance and Quality Control in the Molecular Laboratory
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Sample Questions
Q1) What is required for incorporating an FDA-approved test into a laboratory?
A) Proceed to use the test reagents according to the manufacturer's directions.
B) Validate test performance on reference and validation specimens.
C) Use the test, substituting reagents previously validated in the laboratory.
D) Request and review quality-assurance data from the manufacturer.
Q2) An unlabeled bottle of clear liquid is found on a shelf. A sign on the shelf says, "Tris-EDTA Buffer, pH 8.0." What is the proper course of action?
A) Use the liquid as Tris-EDTA.
B) Taste the liquid to make sure it isn't saline.
C) Dispose of the liquid.
D) Measure the pH. If it is 8.0, proceed to use the liquid as Tris-EDTA.
Q3) The analysis of external specimens to assess technologist competency and assay performance is which kind of testing?
A) Proficiency
B) Quality control
C) Quality assurance
D) Competency
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Page 18