Genetic Counseling Final Exam
Course Introduction
Genetic Counseling is a course that introduces students to the principles, practices, and ethical considerations of providing information and support to individuals and families affected by or at risk for genetic disorders. The course covers topics such as inheritance patterns, risk assessment, psychosocial aspects of counseling, genetic testing technologies, communication of complex genetic information, and the role of genetic counselors in healthcare settings. Emphasis is placed on developing interpersonal skills, sensitivity to cultural and ethical issues, and the ability to interpret genetic data to inform and empower patients decision-making processes regarding their health and family planning.
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) Nucleotides in DNA consist of which of the following?
A) Nitrogen base, deoxyribose, and phosphate
B) Nitrogen base, ribose, and sulfur
C) Carbon base, ribose, and phosphate
D) Carbon base, glucose, and carboxyl
Answer: A
Q3) DNA replication is:
A) Conservative
B) Semiconservative
C) Nonconservative
D) Dispersive
Answer: B
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Chapter 2: RNA
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Sample Questions
Q1) Genomic imprinting is accomplished primarily through:
A) Methylation
B) Acetylation
C) Transcription
D) Cis and trans factor interactions
Answer: A
Q2) Which of the following is required for termination of transcription in bacteria?
A) DNA polymerase
B) Sigma
C) Rho
D) PolyA signal
Answer: C
Q3) What is the secondary structure of transfer RNA?
A) Cruciform, or inverted L
B) Hairpin
C) Triple helix, or triplex
D) Ring, or inverted C
Answer: A
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4
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) Alpha helices and beta-pleated sheets are what level of protein structure?
A) Primary
B) Secondary
C) Tertiary
D) Quaternary
Answer: B
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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Q1) Diethyl pyrocarbonate (DEPC) is a chemical that is used to:
A) Inactivate DNAses
B) Measure DNA concentration
C) Isolate mitochondria
D) Inactivate RNAses
Q2) Phenol/chloroform and an aqueous solution will form what type of mixture?
A) Simple solution
B) Emulsion
C) Suspension
D) Supersaturated solution
Q3) PolyT oligomers bound to a matrix resin column will selectively isolate which of the following?
A) Ribosomal RNA
B) GC-rich DNA
C) Transfer RNA
D) Messenger RNA
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Chapter 5: Resolution and Detection of Nucleic Acids
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Q1) The functions of which of the following include carrying the current and protecting the sample nucleic acids during electrophoresis?
A) Glycerol
B) Formaldehyde
C) Ammonium persulfate
D) Tris borate EDTA
Q2) 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
Q3) Which of the following properties is true for ethidium bromide?
A) Emits green light when excited at 200 nm
B) Level of detection is 5 pg of DNA
C) Intercalates between nitrogen bases
D) Has no background fluorescence in agarose
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Chapter 6: Analysis and Characterization of Nucleic Acids and Proteins
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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) 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
Q3) The entire human genome can be analyzed at one time by which of the following methods?
A) Northern blot
B) Southern blot
C) Slot blot
D) Microarray
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Chapter 7: Nucleic Acid Amplification
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Sample Questions
Q1) SYBR Green fluorescence is detectable at which stage of the PCR amplification process?
A) Template denaturation
B) Cycle 1
C) Primer annealing and extension
D) Prior to amplification
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) 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) A chromosome formed when parts of two or more chromosomes are joined to a third normal chromosome is called a(n):
A) Ring chromosome
B) Isochromosome
C) Derivative chromosome
D) Balanced translocation
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) A chromosome that has the centromere in the center of the chromosome is called:
A) Acrocentric
B) Telocentric
C) Metacentric
D) Holocentric
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Page 10
Chapter 9: Gene Mutations
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Sample Questions
Q1) 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
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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Chapter 10: DNA Sequencing
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Sample Questions
Q1) Which end of the sequenced DNA is found at the bottom of a sequencing gel?
A) 5'
B) 3'
C) 2'
D) 1'
Q2) Dideoxycytidine is added to one of four sequencing reactions. All of the DNA fragments produced in that reaction end with which of the following nucleotides?
A) dG
B) ddC
C) dC
D) ddG
Q3) Ten equivalents of a genome were cut into small pieces and sequenced. Computers were then used to put the sequences of the pieces together to determine the sequence of the intact genome. The method described is which of the following?
A) Basic Local Alignment Search Tool
B) Hierarchal Genome Sequencing
C) Whole Genome Shotgun Sequencing
D) Gene Recognition and Assembly
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Chapter 11: DNA Polymorphisms and Human Identification
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Sample Questions
Q1) DNA was isolated from a patient and cut with HaeIII. The resulting fragments were separated by gel electrophoresis and transferred to a membrane. The fragments were allowed to hybridize to a probe, and the resulting band pattern was compared with that seen in another sample of DNA. Which of the following methods is described?
A) RFLP by Southern blot
B) VNTR by PCR
C) SNP by sequencing
D) STR by PCR
Q2) Mitochondrial polymorphisms used for human identification are found in what part of the mitochondrial genome?
A) In the mitochondrial tRNA genes
B) At the origin of transcription
C) In the hypervariable regions
D) Anywhere on the circular genome
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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Page 13
Chapter 12: Detection and Identification of Microorganisms
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Sample Questions
Q1) The ability of a typing method to distinguish between unrelated strains is which of the following criteria?
A) Ease of use
B) Discriminatory power
C) Reproducibility
D) Ease of interpretation
Q2) 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
Q3) Which of the following is a genotypic method for typing organisms?
A) Antibiogram patterns
B) Pulsed field gel electrophoresis
C) Serotyping
D) Bacteriophage typing
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14
Chapter 13: Molecular Detection of Inherited Diseases
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Sample Questions
Q1) One of the rarest genome mutations, in which the affected infant has a cleft palate, abnormal heart, and developmental delays and usually does not survive beyond 6 months because of trisomy 13, is which of the following syndromes?
A) Down's
B) Turner's
C) Patau's
D) Edward's
Q2) All members of a family carry the same gene polymorphism associated with a certain phenotype. There is a range of phenotypes among the family members. What is the term for this observation?
A) Variable expressivity
B) Complete penetrance
C) X-linked
D) Y-linked
Q3) What is indicated by the term CYP2A6?
A) Cytochrome P-450, subfamily IIA, polypeptide 6
B) Cytochrome P-450, subfamily IIA 6
C) Cytochrome P-450, subfamily 6, polypeptide 2A
D) Cytochrome P-450, polypeptide A6, subfamily II
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Page 15
Chapter 14: Molecular Oncology
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Sample Questions
Q1) What are the two checkpoints of the cell division cycle?
A) M to G1 and G1 to G2
B) G1 to G2 and M to S
C) G1 to S and G2 to M
D) S to G1 and G2 to M
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) Herceptin (trastuzumab) therapy works best on what tumors?
A) Colon cancer expressing K-ras
B) Lung cancer with EGFR mutations
C) Breast cancer with no HER2/neu expression
D) Breast cancer with HER2/neu overexpression
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Chapter 15: Dna-Based Tissue Typing
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Sample Questions
Q1) Which is the term for recognition of two or more antigens by the same antibody?
A) Synonymous
B) Ambiguity
C) Nonsense
D) Null
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) HLA specificities were first defined in the laboratory based on which type of methodology?
A) Restriction fragment length polymorphism
B) Pulsed field gel electrophoresis
C) Amino acid sequencing
D) Serology
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17
Chapter 16: Quality Assurance and Quality Control in the Molecular Laboratory
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Sample Questions
Q1) 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.
Q2) Which test method is best for a fixed tissue specimen?
A) Long-range PCR
B) Southern blot
C) Standard PCR
D) PFGE
Q3) The temperature in a refrigerator that is used to store patient specimens and reagents should be checked how often?
A) Hourly
B) Daily
C) Biweekly
D) Weekly
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