Clinical Genetics Test
Bank
Course Introduction
Clinical Genetics explores the principles and applications of genetics in medical practice, focusing on the diagnosis, management, and counseling of patients with inherited disorders. The course covers the molecular and chromosomal basis of genetic diseases, modes of inheritance, genetic testing methodologies, and the role of genomics in personalized medicine. Students will engage with case studies to develop skills in pedigree analysis, risk assessment, and ethical considerations in clinical genetics, preparing them to interpret genetic information and support patient care in a clinical setting.
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
Source URL: https://quizplus.com/study-set/3839
Page 2
Chapter 1: DNA
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30 Verified Questions
30 Flashcards
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Sample Questions
Q1) DNA replication requires the presence of:
A) DNA template
B) Pyrophosphate
C) Amino acids
D) Messenger RNA
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) The purpose of ligase is to:
A) Synthesize DNA
B) Cut DNA within the double helix
C) Chew DNA from the ends
D) Paste two ends of DNA together
Answer: D
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Chapter 2: RNA
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30 Flashcards
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Sample Questions
Q1) Which of the following would prevent transcription of the lactose operon?
A) Loss of promoter
B) Presence of inducer
C) Loss of the repressor protein
D) RNA polymerase binding to the promoter
Answer: A
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) When gene expression is regulated by mechanisms other than the interaction of cis elements and trans factors, the regulation is called:
A) Induction
B) Epigenetics
C) Attenuation
D) Combinatorial control
Answer: B
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Page 4
Chapter 3: Proteins
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Sample Questions
Q1) Alpha helices and beta-pleated sheets are what level of protein structure?
A) Primary
B) Secondary
C) Tertiary
D) Quaternary
Answer: B
Q2) A glycoprotein contains ______attached after translation.
A) extra amino acids
B) sugar moieties
C) lipids
D) metal ions
Answer: B
Q3) 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
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Page 5
Chapter 4: Nucleic Acid Extraction Methods
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25 Verified Questions
25 Flashcards
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Sample Questions
Q1) In organic isolation of RNA procedures, guanidinium isothiocyanate is added to:
A) Degrade DNA
B) Denature all proteins
C) Inhibit RNAses
D) Separate RNA from DNA
Q2) 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
Q3) In organic DNA extraction methods, the DNA is found in which fraction?
A) Upper aqueous
B) Lower aqueous
C) Upper hydrophobic
D) Lower hydrophobic
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Chapter 5: Resolution and Detection of Nucleic Acids
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Sample Questions
Q1) 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
Q2) Which of the following molecules is added to an electrophoresis buffer for the purpose of denaturing DNA?
A) Ethylenediaminetetraacetic acid
B) Polyacrylamide
C) Formamide
D) Tris borate
Q3) The matrix in capillary electrophoresis through which nucleic acids pass is:
A) Silica
B) Agarose
C) Agarobiose
D) Optimized polymer
Q4) Nucleic acids migrate toward which pole in electrophoresis?
A) Cathode
B) Anode
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Chapter 6: Analysis and Characterization of Nucleic Acids and Proteins
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30 Verified Questions
30 Flashcards
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Sample Questions
Q1) The specificity of western blots depends on what interaction?
A) DNA/RNA complementarity
B) RNA/RNA complementarity
C) DNA antigens
D) Antigen/antibody recognition
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) 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
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Page 8
Chapter 7: Nucleic Acid Amplification
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Sample Questions
Q1) TaqMan, molecular beacons, and scorpion-type primers are all used in which of the following procedures?
A) Branched DNA assays
B) Quantitative PCR
C) Transcription-mediated amplification
D) Multiplex PCR
Q2) Nucleic acid has been isolated from a urethral swab and a PCR is performed on the sample to detect Neisseria gonorrhoeae. The positive control has a band at the expected size; the negative template control and the contamination controls do not have bands; and the amplification control has a band of expected size. The patient sample has a band consistent with the amplification control band and does not have a band corresponding to the positive control band. How is this result interpreted?
A) The patient has a positive PCR result for Neisseria gonorrhoeae.
B) The results are not acceptable because the control results are invalid.
C) The patient does not have Neisseria gonorrhoeae, and it is a true negative result.
D) The patient has a false negative result for Neisseria gonorrhoeae.
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Chapter 8: Chromosomal Structure and Chromosomal Mutations
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Sample Questions
Q1) Down's syndrome is caused when an extra copy of chromosome 21 is created, which is what kind of genetic event?
A) Gene mutation
B) Chromosome mutation
C) Genome mutation
D) Euploidy
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.
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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) A patient is being tested to determine whether he has the factor V Leiden mutation by PCR-RFLP analysis. PCR is performed on the patient's DNA and cut with HindIII. The mutation-positive control sample had a single band of expected size, and the mutation-negative control sample had a slightly larger band. The patient's specimen had two bands, one that was the same size as the mutation-positive control band and the other the same as the mutation-negative control. Which of the following is the correct interpretation of these results?
A) The patient does not have the factor V Leiden mutation.
B) The patient is heterozygous for the factor V Leiden mutation.
C) The patient is homozygous for the factor V Leiden mutation.
D) The results are not valid, and the assay should be repeated.
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Page 11
Chapter 10: DNA Sequencing
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Sample Questions
Q1) In bioinformatics, when a sequence is entered and compared with all other sequences in a database, which of the following is being performed?
A) Algorithm
B) Query
C) Motif
D) Annotation
Q2) In Maxam-Gilbert sequencing, a band that is present in the lane from the tube treated with formic acid (G or A) but not the tube treated with dimethyl sulfate (G) is read as which of the following nucleotides?
A) A
B) T
C) C
D) G
Q3) Incomplete cleaning of the fluorescently labeled sequencing ladder will result in what effect?
A) Dim bands or peaks
B) Unequal signal from lane to lane
C) Dye blobs
D) Equally spaced bands in every lane
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Page 12
Chapter 11: DNA Polymorphisms and Human Identification
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27 Verified Questions
27 Flashcards
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Sample Questions
Q1) 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
Q2) When two sources of DNA are compared by STR analysis in a crime scene, how many differences between alleles will determine that the two sources are different?
A) 1
B) 2
C) 4
D) 6
Q3) If a locus on chromosome 16 is homozygous, then the locus has:
A) Many different alleles on one chromosome 16
B) The same alleles on each chromosome 16 homolog
C) Different alleles on each chromosome 16 homolog
D) No alleles
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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) 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
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Chapter 13: Molecular Detection of Inherited Diseases
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Sample Questions
Q1) A patient is tested for the presence of the factor V Leiden mutation by PCR-RFLP. The mutation forms a recognition site for the MnlI restriction enzyme. Isolated DNA is amplified by PCR, and the resulting amplicons are cut with MnlI and separated by gel electrophoresis. Two bands are seen in the lane loaded with the patient's sample, one at 153 bp and the other at 67 bp. One band (220 bp) is seen in the normal control. Which of the following is the correct interpretation of these results?
A) Normal
B) Heterozygous mutation
C) Homozygous mutation
D) Wrong target and method performed for this disease
Q2) What defines a congenital disease?
A) Always heritable
B) Present at birth
C) Limited to blood disorders
D) Symptoms delayed until puberty
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15
Chapter 14: Molecular Oncology
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Sample Questions
Q1) Specific translocations involving the EWS gene at 22q12 are useful for diagnosis of what types of tumors?
A) Lymphoma
B) PNET/Ewing's sarcoma
C) Adenocarcinoma
D) Adenoma
Q2) Which of the following targets is tissue specific but not necessarily tumor specific?
A) PML/RARA
B) EWS/FLI-1
C) EGFR
D) BCR/ABL
Q3) Which of the following translocations is associated with acute promyelocytic leukemia (APL)?
A) t(1;19)
B) t(15;17)
C) t(11;14)
D) t(8;14)
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16
Chapter 15: DNA-Based Tissue Typing
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31 Flashcards
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Sample Questions
Q1) In PCR-SSOP methods for HLA typing, the primers used to amplify the region are complementary to sequences present in which exon of the class II genes?
A) 1
B) 2
C) 3
D) 4
Q2) Which is a nucleic acid-based test?
A) CDC
B) Isoelectric focusing
C) Crossmatching
D) SSOPH
Q3) Which are used in crossmatching for organ transplant?
A) Donor serum and recipient lymphocytes
B) Recipient serum and donor lymphocytes
C) Donor serum and recipient serum
D) Donor lymphocytes and recipient lymphocytes
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Chapter 16: Quality Assurance and Quality Control in the Molecular Laboratory
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30 Verified Questions
30 Flashcards
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Sample Questions
Q1) Which of the following controls defines the lower limit of reproducible and accurate detection of a molecular target?
A) Positive
B) Negative
C) Sensitivity
D) Amplification
Q2) What is required for incorporating an FDA-approved test into a laboratory?
A) Proceed to use the test reagents according to the manufacturer's directions.
B) Validate test performance on reference and validation specimens.
C) Use the test, substituting reagents previously validated in the laboratory.
D) Request and review quality-assurance data from the manufacturer.
Q3) Which is not intended for diagnostic use?
A) IVD reagents
B) RUO test kits
C) FDA-approved test kits
D) FDA-cleared reagent sets
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