Clinical Biochemistry Exam
Questions
Course Introduction
Clinical Biochemistry is a course that explores the chemical processes and substances that occur within the human body, emphasizing their relevance to the diagnosis and management of diseases. Students will learn about the principles and techniques used to analyze body fluids, such as blood and urine, for biomarkers of health and disease. Topics include the biochemical basis of metabolic disorders, enzyme function and dysfunction, interpretation of laboratory results, automation in clinical laboratories, and quality control measures. The course prepares students to understand the clinical significance of biochemical tests, supporting their application in medical diagnostics and patient care.
Recommended Textbook
Molecular Diagnostics Fundamentals Methods and Clinical Applications 2nd Edition by Lela Buckingham
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16 Chapters
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Chapter 1: DNA
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Sample Questions
Q1) Which of the following does not play a role in DNA replication?
A) RNA primer
B) Deoxynucleotide
C) Stop codon
D) DNA polymerase
Answer: C
Q2) Enzymes that recognize palindromic sequences of DNA, that are cut within the recognition sequence, that do not have methylating activity, and that are used frequently in the laboratory are which type of restriction enzymes?
A) Type I
B) Type II
C) Type III
D) Type IV
Answer: B
Q3) 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
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Page 3
Chapter 2: RNA
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Sample Questions
Q1) The large ribosome subunit in prokaryotes consists of ribosomal proteins and:
A) 16S rRNA
B) 18S rRNA
C) 23S rRNA and 5S rRNA
D) 28S rRNA, 5S rRNA, and 5.8S rRNA
Answer: C
Q2) Which of the following is involved in termination of transcription in eukaryotes?
A) RNA polymerase
B) Sigma
C) Rho
D) PolyA signal
Answer: D
Q3) Alteration of the nucleotide sequence of RNA after transcription is called:
A) Methylation
B) RNA silencing
C) RNA editing
D) Capping
Answer: C
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Chapter 3: Proteins
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Sample Questions
Q1) What enzymes are important for faithful translation of genetic information from RNA to protein?
A) DNA polymerase
B) Amino-acyl tRNA synthetase
C) DNA ligase
D) Exonuclease
Answer: B
Q2) All but two amino acids are encoded by more than one codon, thus making the genetic code:
A) Error-prone
B) Random
C) Redundant
D) Denatured
Answer: C
Q3) Which of the following amino acids has a nonpolar R group?
A) Valine
B) Cysteine
C) Serine
D) Tyrosine
Answer: A
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Chapter 4: Nucleic Acid Extraction Methods
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Sample Questions
Q1) When measuring the concentration of RNA by spectrophotometry at 260 nm, the absorbance reading is multiplied by the dilution and a conversion factor of:
A) 20
B) 30
C) 40
D) 50
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) Phenol/chloroform and an aqueous solution will form what type of mixture?
A) Simple solution
B) Emulsion
C) Suspension
D) Supersaturated solution
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Chapter 5: Resolution and Detection of Nucleic Acids
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Sample Questions
Q1) To increase the density of a sample relative to the density of the buffer prior to loading the sample into a gel, which of the following is added to the sample?
A) Glycerol
B) Ethidium bromide
C) Formaldehyde
D) Tris acetate EDTA
Q2) As compared with traditional slab gel electrophoresis, which of the following is not an advantage of capillary electrophoresis?
A) Analyzes smaller amounts of samples
B) Ability to run more than one sample together
C) Cost of instrumentation and labels
D) Real-time sample detection and analysis
Q3) How does one prepare a 2% agarose gel?
A) Mix 0.01 g agarose/mL running buffer and heat.
B) Mix 0.02 g agarose/mL running buffer and heat.
C) Mix 2 g agarose/mL running buffer and heat.
D) Mix 1 g agarose/mL running buffer and heat.
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Chapter 6: Analysis and Characterization of Nucleic Acids and Proteins
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Sample Questions
Q1) In order to depurinate DNA after electrophoresis, the gel should be soaked in which of the following?
A) NaOH
B) HCl
C) Saline sodium citrate
D) Formamide
Q2) What is the melting temperature (T<sub>m</sub>) of the following hybrid:
AGCTATGCCGGCTAGCAC
TCGATACGGCCGATCGTG
A) 40<sup>o</sup>C
B) 50<sup>o</sup>C
C) 58<sup>o</sup>C
D) 65<sup>o</sup>C
Q3) Which of the following bind(s) specifically to a sequence of interest, thus facilitating the analysis of that sequence?
A) Restriction enzymes
B) Probes
C) Hybridomas
D) Digoxigenin
8
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Chapter 7: Nucleic Acid Amplification
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Sample Questions
Q1) What is the purpose of an amplification control in PCR?
A) To check for contamination
B) To distinguish true positives from false positives
C) To distinguish true negatives from false negatives
D) To protect the template from degradation
Q2) Which of the following is the most likely source of PCR contamination?
A) Unfiltered dust particles
B) Environmental fungi
C) Eyelashes
D) PCR products from a previous reaction
Q3) A DNA sequence with high GC content is more likely to have what property that interferes with PCR amplification?
A) Tendency to degrade
B) Enzyme inactivation
C) Lower Tm
D) Secondary structure
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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) Which of the following types of chromatin are open and actively involved in gene expression (transcription)?
A) Heterochromatin
B) Homochromatin
C) Euchromatin
D) Interchromatin
Q3) An exchange of genetic material between chromosomes is called a(n):
A) Deletion
B) Inversion
C) Insertion
D) Translocation
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Page 10
Chapter 9: Gene Mutations
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Sample Questions
Q1) What is MALDI-TOF?
A) An HPLC method
B) Gel-based electrophoresis
C) A type of mass spectrometry
D) ELISA performed under controlled conditions
Q2) A reference segment of DNA has the following sequence: GCTCACCATGG. Insertion of AG occurs between positions 7 and 8 in a particular genetic disease. How is this mutation denoted by accepted nomenclature?
A) 7C>AG
B) 7_8insAG
C) 8delAinsAG
D) 7_8delAG
Q3) Which is a frameshift mutation?
A) Loss of one codon
B) A 3-base insertion
C) A 6-base deletion
D) A 2-base deletion
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Chapter 10: DNA Sequencing
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Sample Questions
Q1) Which of the following pieces of information has been determined about the human genome?
A) Chromosome 13 has the most genes per bp.
B) The size of the human genome is 3 Gbp.
C) The average gene size is 45 kbp.
D) Chromosome X has the fewest genes.
Q2) A portion of a sequencing gel is described as follows: the first band at the bottom of the gel was in the ddATP lane; the next band going up the gel was in the ddTTP lane, then the ddCTP lane, the ddGTP lane, the ddATP lane, the ddTTP lane, the ddCTP lane, the ddCTP lane, the ddATP lane, and the ddGTP lane. Which of the following is the correct sequence as determined on this gel?
A) 5'GACCTAGCTA3'
B) 3'ATCGATCCAG5'
C) 5'ATCGATCCAG3'
D) 3'TCAGTCAGC5'
Q3) Which is the output from capillary electrophoresis of a fluorescent product?
A) Autoradiogram
B) Electropherogram
C) Pictogram
D) Nomogram
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Chapter 11: DNA Polymorphisms and Human Identification
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Sample Questions
Q1) The uniqueness of mitochondrial and Y-STR alleles is expressed by what measure?
A) Matching probability
B) Discriminatory capacity
C) Recombination frequency
D) Linkage to autosomal loci
Q2) DNA found at the scene of the crime was determined to have one peak at 212 bp at the amelogenin locus. The source of this DNA is which of the following?
A) Female
B) Male
C) Impossible to tell from one locus
D) This locus does not discriminate between males and females.
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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Q1) DNA is isolated from a test organism and cut with restriction enzymes. The fragments are ligated to adapters that are complementary to primers that are added to perform two rounds of PCR. The PCR products are separated by gel electrophoresis and analyzed. Which of the following methods was described?
A) Restriction fragment length polymorphism
B) Amplified fragment length polymorphism
C) Pulsed field gel electrophoresis
D) Arbitrarily primed PCR
Q2) In the interpretation of pulsed field gel electrophoresis patterns, what is the minimum number of bands that can differ between two organisms before those organisms are determined to be unrelated?
A) 2
B) 3
C) 6
D) 7
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Chapter 13: Molecular Detection of Inherited Diseases
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Sample Questions
Q1) Which of the following syndromes is caused by deletions in mitochondrial genes as detected by Southern blot?
A) Pearson's
B) NARP
C) Leber's
D) Mitochondrial DNA depletion
Q2) Mutation in this gene product that catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate can lead to cardiovascular disease and complications in pregnancy.
A) TP53
B) MTHFR
C) F5
D) HLA-H
Q3) 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
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Page 15
Chapter 14: Molecular Oncology
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Sample Questions
Q1) T-cell receptor gene rearrangements were analyzed by PCR using forward and reverse primers complementary to the V<sub>\(\gamma\)</sub>1 and J<sub>\(\gamma\)</sub>1 regions, respectively, of the T-cell receptor gene region. The products were separated by polyacrylamide gel electrophoresis and bands visualized using ethidium bromide. The lane corresponding to the patient had a sharp band. All controls were acceptable. How is this result interpreted?
A) The patient has a monoclonal (monotypic) T-cell population.
B) The patient is normal and has polyclonal T cells.
C) This is a false positive because of amplification of immunoglobulin genes.
D) The assay should be repeated because the wrong primers were used.
Q2) Mutations in this gene are found in inherited multiple endocrine neoplasia (MEN) syndromes.
A) EGFR
B) SSX
C) RET
D) VHL
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Page 16
Chapter 15: DNA-Based Tissue Typing
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Sample Questions
Q1) Polymorphisms in the HLA locus arise primarily through which type of genetic event?
A) Translocation
B) Gene conversion
C) Missense mutation
D) Deletion
Q2) Sequence-specific PCR using allele-specific primers and primers for an amplification control has been performed on DNA isolated from a patient requiring bone marrow transplantation. Analysis of the reaction by gel electrophoresis reveals the presence of two bands in a gel lane. How is this interpreted?
A) False positive
B) False negative
C) True positive
D) True negative
Q3) A set of alleles on the same chromosome is called which of the following?
A) Polymorphism
B) Aneuploid
C) Haplotype
D) Histocompatibility
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Chapter 16: Quality Assurance and Quality Control in the Molecular Laboratory
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Sample Questions
Q1) Which of the following organizations has established standards used by laboratory professionals when developing, implementing, and performing molecular-based laboratory tests?
A) Clinical and Laboratory Standards Institute
B) American Society for Clinical Laboratory Science
C) Joint Commission on Accreditation of Healthcare Organizations
D) National Accrediting Agency for Clinical Laboratory Science
Q2) A blood sample is received in the laboratory for factor V Leiden analysis. What precautions are appropriate?
A) No precautions
B) Transmission-based precautions
C) Standard precautions
D) Contact precautions
Q3) The ability of a molecular-based assay to detect only the analyte and not other targets is called which of the following?
A) Clinical specificity
B) Clinical sensitivity
C) Analytic sensitivity
D) Analytic specificity
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