Molecular Diagnostics
Exam Questions
Course Introduction
Molecular Diagnostics focuses on the principles and applications of molecular biology techniques for the detection and analysis of nucleic acids and proteins in clinical samples. The course covers methods such as PCR, real-time PCR, nucleic acid hybridization, DNA sequencing, and microarray analysis, emphasizing their roles in disease diagnosis, monitoring, and personalized medicine. Students will explore assay development, validation, quality control, and interpretation of results, with discussion of current practices, emerging technologies, and ethical considerations within molecular diagnostic laboratories.
Recommended Textbook
Molecular Diagnostics Fundamentals Methods and Clinical Applications 2nd Edition by Lela Buckingham
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16 Chapters
448 Verified Questions
448 Flashcards
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Chapter 1: DNA
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Sample Questions
Q1) Which of the following is a type II restriction enzyme recognition site?
A) GAATTC
B) GAATTG
C) GAAAAG
D) GATCAG
Answer: A
Q2) Recombination between a plasmid and the cell chromosome will result in:
A) Rapid degradation of the chromosome
B) Death of the cell
C) Immediate cellular replication
D) Stable integration of plasmid genes into the chromosome
Answer: D
Q3) In sexual recombination, new combinations of genes are created by which of the following processes?
A) Transduction
B) Crossing over
C) Conjugation
D) Transformation
Answer: B
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Page 3
Chapter 2: RNA
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Sample Questions
Q1) Which of the following is involved in termination of transcription in eukaryotes?
A) RNA polymerase
B) Sigma
C) Rho
D) PolyA signal
Answer: D
Q2) Genomic imprinting is accomplished primarily through:
A) Methylation
B) Acetylation
C) Transcription
D) Cis and trans factor interactions
Answer: A
Q3) Synthesis of RNA guided by a DNA template is:
A) Translation
B) DNA replication
C) Transcription
D) Reverse transcription
Answer: C
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Page 4
Chapter 3: Proteins
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Sample Questions
Q1) The codons that do not code for an amino acid and terminate protein synthesis are what kind of codon?
A) Wobble
B) Initiation
C) Nonsense
D) Anticodon
Answer: C
Q2) Given the following sequence of mRNA, what is the corresponding amino acid sequence? 5'AUGCAUAACUCUGCU3'
A) DCITL
B) RHNSA
C) AQRRV
D) MHNSA
Answer: D
Q3) Alpha helices and beta-pleated sheets are what level of protein structure?
A) Primary
B) Secondary
C) Tertiary
D) Quaternary
Answer: B
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Chapter 4: Nucleic Acid Extraction Methods
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Sample Questions
Q1) The 260 nm/280 nm ratio for isolated DNA was determined to be 1:2. What should be done next with this sample?
A) Proceed with DNA analysis as necessary.
B) Reprecipitate the DNA to remove excess protein.
C) Treat the sample with RNAse to remove RNA.
D) Dilute the sample to 1:10 and repeat spectrophotometry.
Q2) What is the concentration of DNA whereby a 1:100 dilution has an absorbance reading of 0.015 at 260 nm?
A) 6 \(\mu\)g/mL
B) 60 \(\mu\)g/mL
C) 75 \(\mu\)g/mL
D) 750 \(\mu\)g/mL
Q3) 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
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Chapter 5: Resolution and Detection of Nucleic Acids
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Sample Questions
Q1) A very limited amount of nucleic acid, 500-1500 bp in size, is to be analyzed in a short time (same day) with the results available immediately. Which of the following electrophoresis procedures will satisfy those conditions?
A) Capillary electrophoresis
B) Pulse-field gel electrophoresis
C) Field inversion gel electrophoresis
D) Contour-clamped homogeneous electric field
Q2) Polyacrylamide gel properties can be altered by adjusting T and C values. What are T and C in this context?
A) Temperature of polymerization and concentration of acrylamide
B) Time of polymerization and number of cytosines in the nucleic acid to be separated
C) Total concentration of acrylamide plus cross-linker and percent cross-linker
D) TEMED concentration and concentration of APS used for polymerization
Q3) Which of the following is not an example of pulse-field gel electrophoresis?
A) Field inversion gel electrophoresis
B) Contour-clamped homogeneous electric field
C) Polyacrylamide gel electrophoresis
D) Transverse alternating field electrophoresis
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Chapter 6: Analysis and Characterization of Nucleic Acids and Proteins
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Sample Questions
Q1) What is star activity?
A) Optimal specific activity of a restriction enzyme
B) Nonspecific digestion of DNA by a restriction enzyme
C) Degradation of DNA ends
D) Re-ligation of cut DNA
Q2) A linear molecule with one restriction enzyme recognition site will yield how many fragments when digested by the restriction enzyme?
A) 1
B) 2
C) 3
D) 4
Q3) What process facilitates denaturation of long DNA fragments?
A) Precipitation
B) Removal of bases from the ends of the molecules
C) Dephosphorylation
D) Depurination
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Chapter 7: Nucleic Acid Amplification
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Sample Questions
Q1) What is the advantage of a nested PCR procedure?
A) Nested PCR is less labor-intensive.
B) Nested PCR offers increased specificity and yield of product.
C) Nested PCR has a shorter reaction time than standard PCR.
D) Nested PCR is less expensive than standard PCR.
Q2) What enzyme system is used to avoid contamination in real-time PCR?
A) dUTP-UNG
B) SSP-PCR
C) UV-psoralen
D) SAP-ExoI
Q3) In PCR, an instrument is used to increase and decrease the temperature at set intervals as programmed by the technologist in order to:
A) Prevent the Taq polymerase from being denatured
B) Avoid the formation of primer dimers on a post-PCR gel image
C) Determine the reaction that is occurring in the sample
D) Neutralize potential contamination from previous amplicons
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Chapter 8: Chromosomal Structure and Chromosomal Mutations
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Sample Questions
Q1) 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
Q2) A reciprocal translocation is which type of mutation?
A) Gene
B) Genome
C) Chromosome
D) Nucleotide
Q3) How is high-resolution banding achieved?
A) Increase the concentration of Giemsa.
B) Stain the chromosomes longer.
C) Stain the chromosomes at low temperatures.
D) Stain the chromosomes before maximal condensation.
Q4) Comparative genome hybridization detects which type of genetic abnormalities?
A) Amplifications relative to reference DNA
B) Absolute gene numbers
C) Inversions
D) Amino acid substitutions
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Chapter 9: Gene Mutations
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Sample Questions
Q1) The amino acid sequence DAILMNCST has an S8X mutation. Which of the following correctly describes this mutation?
A) Seven additional serine residues are inserted next to S.
B) The S is substituted with any amino acid at position 8.
C) There was a frameshift mutation at the S, producing a stop codon.
D) The S at position 8 is mutated to a nonsense codon.
Q2) Patient DNA has been mixed in separate wells with a probe that detects the 1691G>A mutation associated with factor V Leiden and a probe that detects the normal sequence. Cleavase is added to all wells, and the fluorescence is measured in each well. Fluorescence was detected in the well that included the normal probe, and no fluorescence was detected in the well containing the mutant probe. Which of the following assays was performed?
A) Invader assay
B) Nonisotopic RNase cleavage assay
C) Chemical cleavage assay
D) High-density oligonucleotide array
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11
Chapter 10: DNA Sequencing
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Sample Questions
Q1) Which of the following are included in sequencing reactions to deter secondary structure in the template and synthesized fragments?
A) Deaza-GTP
B) Manganese
C) Magnesium
D) Extra dNTPs
Q2) Which of the following is a genetic sequence database that is sponsored by the National Institutes of Health?
A) PubMed
B) Swiss-Prot
C) GenBank
D) Interface
Q3) In Maxam-Gilbert sequencing, co-migrating bands that are present in lanes from the tube treated with hydrazine (T or C) and the tube treated with hydrazine plus salt (T) are read as which of the following nucleotides?
A) A
B) T
C) C
D) G
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Page 12
Chapter 11: DNA Polymorphisms and Human Identification
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Sample Questions
Q1) Which are more likely to be successfully analyzed on highly degraded DNA?
A) VNTR
B) RFLP
C) STR
D) Mini-STR
Q2) What is a microvariant?
A) An STR allele missing base pairs in the repeat unit
B) Any mini-STR allele
C) A viral genome integrated into host DNA
D) A DNA region with many HaeIII sites
Q3) 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
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13
Chapter 12: Detection and Identification of Microorganisms
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Sample Questions
Q1) Pulsed field gel electrophoresis has been performed on two isolates of Escherichia coli from the blood of newborns in the same neonatal unit. The banding pattern of one isolate had two differences from the banding pattern of the other isolate. Which of the following is the correct interpretation of these results?
A) The isolates are indistinguishable.
B) The isolates are closely related.
C) The isolates are not related.
D) The isolates are different species.
Q2) Which of the following is the molecular target for most epidemiological investigations of Mycobacterium tuberculosis?
A) katG
B) inhA
C) IS6110
D) IS481
Q3) Which virus does not share sequence homology with the others?
A) JC
B) BK
C) HCV
D) SV40
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Page 14
Chapter 13: Molecular Detection of Inherited Diseases
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Sample Questions
Q1) Mitochondrial mutations primarily affect which of the following tissues?
A) Skin
B) Bone
C) Muscle
D) Lung
Q2) The detection of mitochondrial mutations is complicated by which of the following?
A) Methods available for analyzing mitochondrial genes
B) Small number of mitochondria in a cell
C) Lack of information about the mitochondrial genome
D) Presence of mutated and normal mitochondria in the same cell
Q3) 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
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Chapter 14: Molecular Oncology
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Sample Questions
Q1) Gene expression patterns are now used to characterize tumor types. What method is appropriate for analysis of expression of many genes simultaneously?
A) Northern blot
B) GE arrays
C) CGH arrays
D) Slot blots
Q2) Which of the following laboratory methods will give the most detailed information regarding whether TP53 mutations are present in a patient's tumor cells?
A) Direct sequencing
B) Pulsed field gel electrophoresis
C) Polymerase chain reaction
D) Southern blot
Q3) What would be observed in the event of loss of heterozygosity?
A) Two alleles at a heterozygous locus
B) One allele at a homozygous locus
C) One allele at a heterozygous locus
D) Two alleles at a homozygous locus
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Chapter 15: Dna-Based Tissue Typing
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Sample Questions
Q1) Mice with compromised immune systems are still capable of graft rejection due to what proteins?
A) HLA-D
B) mHag
C) KIR
D) HLA-A
Q2) The level of detail to which an allele is identified is called which of the following?
A) Resolution
B) Ambiguity
C) Specificity
D) Typing
Q3) Which of the following methods that can be used to determine HLA types is only a low-resolution method?
A) PCR-SSP
B) PCR-SSOP
C) CDC
D) SBT
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17
Chapter 16: Quality Assurance and Quality Control in the Molecular Laboratory
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Sample Questions
Q1) Which of the following does not have to be documented in a procedure description that is written according to CLSI guidelines?
A) Sequence of primers
B) Credentials of technologist performing the assay
C) Acceptable ranges of product sizes
D) Probe purification conditions
Q2) Probes, primers, antibodies, and other test components that detect a specific target, such as a cell surface protein or DNA mutation, without claims to clinical significance are classified as what type of reagents?
A) FDA cleared
B) IVD
C) RUO
D) ASR
Q3) A quantitative method was performed 100 times, and results from 99 of the 100 runs were in agreement with each other. This method has 99%:
A) Precision
B) Specificity
C) Sensitivity
D) Accuracy
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