

Molecular Diagnostics
Textbook Exam Questions
Course Introduction
Molecular Diagnostics is a comprehensive course that explores the principles, methodologies, and applications of molecular techniques in the diagnosis of diseases. Students will learn about nucleic acid extraction, amplification methods such as PCR, sequencing technologies, and hybridization assays. The course also covers clinical applications including the detection of genetic disorders, infectious diseases, and cancer, as well as the interpretation of molecular test results. Emphasis is placed on the integration of molecular diagnostics in personalized medicine, quality control, regulatory considerations, and current advances in the field.
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) 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
Q2) What reactions are catalyzed by DNA methyltransferase?
A) Addition of methyl groups to nitrogen bases
B) Addition of methyl groups to ribose sugars
C) Addition of methyl groups to proteins
D) Removal of methyl groups from DNA
Answer: A
Q3) Which of the following enzymes will untangle DNA?
A) Polymerase
B) Helicase
C) Kinase
D) Phosphatase
Answer: B
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Chapter 2: RNA
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Sample Questions
Q1) The loop of transfer RNA that interacts with the codon on mRNA in translation is called the:
A) D loop
B) T\(\varPsi\) C loop
C) Variable loop
D) Anticodon loop
Answer: D
Q2) In the lactose operon, which of the following configurations would result in gene expression?
A) Promoter +, Operator +, Repressor +, no inducer present
B) Promoter -, Operator +, Repressor +, no inducer present
C) Promoter -, Operator -, Repressor +, inducer present
D) Promoter +, Operator +, Repressor -, no inducer present
Answer: D
Q3) Thalassemias arise from changes in what part of the beta-globin gene?
A) 3' untranslated region
B) PolyA tail
C) Splice recognition site
D) Ribosome binding site
Answer: C
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Chapter 3: Proteins
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Sample Questions
Q1) 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
Q2) The fundamental physical and functional unit of inheritance that encodes a functional product is a:
A) Gene
B) Protein
C) Nucleotide
D) Nucleic acid
Answer: A
Q3) Denaturation of a protein results in what effect?
A) Activation of protein activity
B) Loss of tertiary structure and protein function
C) None
D) Alteration of the amino acid sequence
Answer: B
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Page 5
Chapter 4: Nucleic Acid Extraction Methods
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Sample Questions
Q1) DNA, after separation from other cellular constituents, is precipitated in which of the following?
A) Chloroform
B) Isopropanol
C) Ethylenediaminetetraacetic acid
D) Sodium dodecyl sulfate
Q2) Which of the following will yield the best DNA preparation?
A) Fixed tissue
B) Hemolyzed blood
C) Fresh blood
D) Stool
Q3) 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
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6

Chapter 5: Resolution and Detection of Nucleic Acids
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Sample Questions
Q1) The positive pole in electrophoresis is indicated by which color?
A) Red
B) Black
C) Green
D) White
Q2) What is one reason that polyacrylamide gels have higher resolution than agarose gels for small fragments?
A) Agarose polymer spaces are bigger than those of polyacrylamide.
B) Agarose polymers are very fragile.
C) Agarose won't separate molecules over a certain size.
D) Agarose is a synthetic polymer in which sieving properties can be precisely controlled.
Q3) 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
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Chapter 6: Analysis and Characterization of Nucleic Acids and Proteins
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Sample Questions
Q1) Western blot probes are what type of molecules?
A) DNA
B) RNA
C) protein
D) PNA
Q2) Which of the following is not a method of transferring nucleic acids from a gel to a membrane substrate?
A) Capillary
B) Vacuum
C) Electrophoretic
D) Ionic
Q3) 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
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8
Chapter 7: Nucleic Acid Amplification
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Sample Questions
Q1) Transcription-mediated amplification obtains:
A) DNA from RNA
B) RNA from DNA
C) DNA from DNA
D) DNA from RNA and RNA from DNA
Q2) Which of the following PCR modifications was developed to allow for the amplification of an RNA template?
A) Multiplex
B) Nested
C) Reverse transcriptase
D) Real-time
Q3) Complementarity of primer pairs at the 3' ends will result in what artifacts?
A) Primer dimers
B) Large mis-primed products
C) No amplification
D) 5' end degradation of the primers
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9

Chapter 8: Chromosomal Structure and Chromosomal Mutations
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Sample Questions
Q1) Which of the following is involved in connecting the centromere to the spindles during chromosome segregation in mitosis?
A) Kinetochore
B) Euchromatin
C) Histone protein H1
D) Heterochromatin
Q2) Which of the following is an advantage of interphase FISH as compared with metaphase FISH?
A) Examination of 20 spreads in interphase FISH has increased sensitivity.
B) One can identify mutations anywhere in the chromosome in interphase FISH.
C) Interphase FISH allows identification of all chromosomes.
D) Results are available faster in interphase FISH procedures than metaphase FISH procedures.
Q3) Which is the proper order for the four phases of the cell cycle?
A) G1, S, M, G2
B) G1, S, G2, M
C) G2, S, M, G1
D) M, S, G1, G2
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Chapter 9: Gene Mutations
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Sample Questions
Q1) A single-strand conformation polymorphism (SSCP) procedure has been performed on a patient sample, and the results were compared with those from a normal reference sample. The patient bands resolved in different locations on the gel as compared with the reference bands. These results would be interpreted as which of the following?
A) The patient sample is normal.
B) The patient has a mutation in the targeted region.
C) The results are invalid.
D) The patient sample is a mixture of normal and mutated sequences.
Q2) A reference segment of DNA has the following sequence: GCTCACCATGG. The fourth nucleotide is changed to an A in a particular genetic disease. How would this mutation be denoted?
A) 4C>A
B) 8A>C
C) 4delC
D) C4A
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11

Chapter 10: DNA Sequencing
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Sample Questions
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) A Sanger sequencing procedure has been performed on a 300-bp piece of DNA. When the fragments were resolved on the gel, there were bands distributed throughout the T, C and A lanes, but in the G lane, there was one thick band at the bottom of the gel.
What is the likely cause of these results?
A) No dGTP was added to the G reaction mix.
B) No ddGTP was added to the G reaction mix.
C) There was only one G in the whole 300-bp piece of DNA.
D) The 300-bp piece of DNA contained Gs only.
Q3) What part of the human genome accounts for encoded proteins?
A) 75%
B) 50%
C) 10%
D) 2%
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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 an expression for how many times more likely the child's allele is inherited from the alleged father than by random occurrence of the allele in the general population?
A) Exclusion
B) Paternity index
C) Inclusion
D) Allele frequency
Q3) 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
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13
Chapter 12: Detection and Identification of Microorganisms
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Sample Questions
Q1) The following methods that are used to determine the HIV viral load in a newly diagnosed patient. Which uses signal amplification?
A) NASBA
B) bDNA
C) RT-PCR
D) Sequencing
Q2) What will be observed in a PCR test of a true negative sample for the sample, positive control, negative control, and amplification control, respectively?
A) Negative, positive, negative, positive
B) Negative, positive, negative, negative
C) Negative, negative, negative, negative
D) Negative, negative, negative, positive
Q3) Which of the following typing methods is an RNA test?
A) Plasmid analysis
B) Ribotyping
C) PCR-RFLP
D) PFGE
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14

Chapter 13: Molecular Detection of Inherited Diseases
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Sample Questions
Q1) A pedigree was examined over four generations of a family with an abnormal rate of genetic disease. Scientists observed that males and females alike were affected by the disease but only when their mother was also affected. The children of affected males were all normal. All the children of affected females were affected. Which of the following describes this inheritance pattern?
A) Mitochondrial related
B) Autosomal dominant
C) Autosomal recessive
D) Sex linked
Q2) Li-Fraumeni syndrome, in which affected patients have an increased predisposition to cancer, is caused by a mutation in which of the following genes?
A) Hemoglobin beta
B) Dystrophin
C) Phenylalanine hydroxylase
D) p53 tumor suppressor gene
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Chapter 14: Molecular Oncology
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Sample Questions
Q1) Malignant tissue originating in one organ (primary) site is isolated from a different organ. How would this malignancy be described?
A) Benign
B) Necrotic
C) Metastatic
D) Apoptotic
Q2) Which of the following translocations can be used to monitor treatment for chronic myelogenous leukemia?
A) t(9;22)
B) t(11;14)
C) t(8:14)
D) t(9;11)
Q3) Which of the following translocations results in the overexpression of the intact translocated gene as opposed to formation of an abnormally functional fusion protein?
A) t(X;18) in synovial sarcoma
B) t(2;13) in rhabdomyosarcoma
C) t(9;22) in chronic myelogenous leukemia
D) t(14;18) in B-cell chronic lymphocytic leukemia
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Chapter 15: Dna-Based Tissue Typing
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Sample Questions
Q1) Which is a nucleic acid-based test?
A) CDC
B) Isoelectric focusing
C) Crossmatching
D) SSOPH
Q2) Bone marrow is going to be transplanted from a man into his sister. Which of the following laboratory procedures should be performed prior to this transplant to determine the HLA alleles of the donor and recipient at the highest resolution?
A) SBT
B) CDC
C) PCR-SSP
D) PCR-SSOP
Q3) Graft rejection of MHC-identical transplants can be caused by which of the following?
A) The alleles present
B) Minor histocompatability antigens
C) The haplotype location on chromosome 6
D) Gender of the recipient
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17

Chapter 16: Quality Assurance and Quality Control in the Molecular Laboratory
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Sample Questions
Q1) 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
Q2) A fax report of patient results is received in error. What should be done?
A) Call the sender immediately.
B) File the report with quality-assurance documents.
C) Discard the report in a standard waste receptacle.
D) Read the report to others in the laboratory.
Q3) Which test method is best for a fixed tissue specimen?
A) Long-range PCR
B) Southern blot
C) Standard PCR
D) PFGE
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Page 18