Genetic Testing and Counseling Test Questions
Course Introduction
This course provides a comprehensive overview of genetic testing and counseling, exploring the scientific, clinical, and ethical aspects involved. Students will learn about the latest technologies used in genetic screening and diagnosis, as well as the interpretation of test results. Emphasis is placed on the counseling process, including risk assessment, communication of complex genetic information, and supporting individuals and families in decision-making. The course also addresses legal, social, and psychological considerations, preparing students for real-world scenarios in healthcare and research settings.
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 does not play a role in DNA replication?
A) RNA primer
B) Deoxynucleotide
C) Stop codon
D) DNA polymerase
Answer: C
Q2) In a DNA molecule, one end has a free hydroxyl group and one end has a free
A) phosphate group
B) hydroxyl group
C) amino group
D) carboxyl group
Answer: A
Q3) 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
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Chapter 2: RNA
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Sample Questions
Q1) Which component of RNA polymerase is responsible for initiating transcription at the correct site?
A) (\(\alpha\))
B) (\(\beta\))
C) (\(\beta\)')
D) (\(\rho\))
E) (\(\sigma\))
Answer: E
Q2) Which of the following types of RNA is directly involved in removing introns from RNA in eukaryotes?
A) Micro
B) Transfer
C) Small nuclear
D) Small interfering
Answer: C
Q3) Multiple products are generated from the same gene by what mechanism?
A) Alternative splicing
B) Polyadenylation
C) Capping
Answer: A
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Chapter 3: Proteins
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Sample Questions
Q1) The collection of proteins produced by a genome is called the:
A) Proteome
B) Protease
C) Ribosome
D) Genetic code
Answer: B
Q2) A codon consists of a sequence of how many nucleotides?
A) One
B) Two
C) Three
D) Four
Answer: C
Q3) The start codon for synthesis of most proteins is:
A) ACC
B) UGA
C) AUG
D) UAA
Answer: C
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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) 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) The most abundant form of RNA in all cells is:
A) Ribosomal
B) Transfer
C) Messenger
D) Small nuclear
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6
Chapter 5: Resolution and Detection of Nucleic Acids
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Sample Questions
Q1) Nucleic acids are injected into the capillary in capillary electrophoresis by which of the following injection methods?
A) Hydrostatic
B) Electrokinetic
C) Pneumatic
D) Vacuum
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) 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) Which of the following enzyme/substrate combinations is used in the chromogenic detection of target sequences of nucleic acids after blotting procedures?
A) Horseradish peroxidase with Luminol/H<sub>2</sub>O<sub>2</sub>/p-iodophenol
B) Alkaline phosphatase with 1-2 dioxetane derivatives
C) Horseradish peroxidase with disodium 3-(4-methoxyspiro {1,2-dioxetane-3,2'-(5'-chloro) tricyclo [3.3.1.1] decan}4-yl)-1-phenyl phosphate
D) Alkaline phosphatase with nitroblue tetrazolium and 5-bromo-4-chloro-3-indolyl phosphate
Q2) 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
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8
Chapter 7: Nucleic Acid Amplification
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Sample Questions
Q1) 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
Q2) Which of the following PCR controls ensures that the enzyme is active, the buffer is optimal, and the primers are priming the correct target sequence and must have a PCR product detected in order to be valid?
A) Positive control
B) Negative template control
C) Contamination control
D) Amplification control
Q3) What is TaqMan?
A) A qPCR probe system
B) High-efficiency buffer used in PCR
C) A special PCR enzyme
D) A video game
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Chapter 8: Chromosomal Structure and Chromosomal Mutations
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Sample Questions
Q1) What is the designation of a cell with three copies of every chromosome?
A) Euploid
B) Diploid
C) Triploid
D) Tetraploid
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) 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
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Chapter 9: Gene Mutations
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Sample Questions
Q1) Which of the following methods has the highest sensitivity, specificity, and accuracy as far as detecting DNA mutations in clinical applications?
A) ELISA
B) High-density oligonucleotide array
C) PCR-RFLP
D) Single-strand conformation polymorphism
Q2) A protein with the sequence DAILMNCST is mutated such that amino acids L and M are deleted. How is this mutation noted by accepted nomenclature?
A) I3_N6del2
B) L4M
C) L4_M5del2
D) L4NfsX9
Q3) Which of the following methods can be used to screen for the presence of unknown mutations?
A) SSP-PCR
B) Allele-specific oligomer hybridization
C) High-density array
D) PCR-RFLP
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Chapter 10: DNA Sequencing
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Sample Questions
Q1) 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
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) Which end of the sequenced DNA is found at the bottom of a sequencing gel?
A) 5'
B) 3'
C) 2'
D) 1'
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Chapter 11: DNA Polymorphisms and Human Identification
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Sample Questions
Q1) Bone marrow has been transplanted into a recipient. STR analysis was performed on whole blood from the recipient 6 months after the transplant by PCR, followed by capillary gel electrophoresis with fluorescence measurement of amplicons. For the TPOX locus, the donor and recipient do not share alleles. The fluorescence of the TPOX locus for the donor peak was 15693, and the fluorescence of the TPOX locus for the recipient peak was 5329. What is the percentage of recipient cells remaining?
A) 25%
B) 34%
C) 66%
D) 75%
Q2) Southern blot is used to detect which of the following polymorphisms?
A) Edited RNA
B) Alternative splicing
C) Restriction fragment length polymorphisms
D) Modified nucleotides
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Chapter 12: Detection and Identification of Microorganisms
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Sample Questions
Q1) Which of the following is an important characteristic of a target sequence for molecular detection of a microorganism?
A) The sequence must be very long.
B) The sequence must be shared by many different organisms.
C) The sequence must be unique to the target organism.
D) The sequence must contain many restriction enzyme sites.
Q2) Which of the following typing methods is an RNA test?
A) Plasmid analysis
B) Ribotyping
C) PCR-RFLP
D) PFGE
Q3) Which of the following targets are used to type molds?
A) ITS
B) 16s RNA
C) ERIC
D) REP
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14
Chapter 13: Molecular Detection of Inherited Diseases
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Sample Questions
Q1) 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
Q2) Mitochondrial mutations primarily affect which of the following tissues?
A) Skin
B) Bone
C) Muscle
D) Lung
Q3) A deceased family member is indicated in a pedigree by which of the following?
A) Triangle
B) Shaded symbol
C) Slash through the symbol
D) X across the symbol
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Chapter 14: Molecular Oncology
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Sample Questions
Q1) Leukemia and lymphoma are:
A) Hematological malignancies
B) Solid tumors
C) Types of carcinoma
D) Always benign
Q2) 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
Q3) These genes form a dimeric enzyme that catalyzes decarboxylation of isocitrate into alpha-ketoglutarate.
A) K-ras, N-ras
B) BRCA1, BRCA2
C) TP53, ATM
D) IDH1, IDH2
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Chapter 15: Dna-Based Tissue Typing
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Sample Questions
Q1) What does the term HLA-DQ designate?
A) HLA gene region, locus Q, sub-region D
B) The entire MHC gene region, locus D
C) HLA gene region, locus D, sub-region Q
D) The entire HLA-D locus
Q2) In accepted HLA nomenclature for identifying HLA alleles by DNA sequence information, the fourth specific allele of the HLA-A31 family would be noted as which of the following?
A) HLA-A*31:04
B) HLA-A*04:31
C) HLA-A*31-04
D) HLA-A*04-31
Q3) Which of the following methods used to determine HLA types always gives high-resolution results?
A) PCR-SSP
B) PCR-SSOP
C) CDC
D) SBT
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Chapter 16: Quality Assurance and Quality Control in the Molecular Laboratory
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Sample Questions
Q1) An assay that detects an analyte associated with a particular disease only in patients who have that disease and not in patients who do not have the disease has which of the following?
A) Analytic specificity
B) Analytic sensitivity
C) Clinical specificity
D) Clinical sensitivity
Q2) The delivery of accurate voltage and current by an electrophoresis power supply should be checked how often?
A) Daily
B) Weekly
C) Monthly
D) Yearly
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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