Clinical Molecular Genetics Exam Preparation Guide
Course Introduction
Clinical Molecular Genetics explores the molecular basis of genetic disorders and their application in clinical practice. The course covers fundamental concepts of DNA structure and function, gene expression, and mutation analysis, as well as advanced diagnostic techniques such as PCR, sequencing, and microarrays. Students will learn how genetic variations contribute to human disease, and the principles of genetic counseling, ethical considerations, and case-based approaches to the management of inherited conditions. Emphasis is placed on the integration of molecular genetic testing in diagnosis, prognosis, and personalized treatment strategies, preparing students for roles in clinical laboratories and genetic medicine.
Recommended Textbook
Molecular Diagnostics Fundamentals Methods and Clinical Applications 2nd Edition by Lela Buckingham
Available Study Resources on Quizplus
16 Chapters
448 Verified Questions
448 Flashcards
Source URL: https://quizplus.com/study-set/3838 Page 2
Chapter 1: DNA
Available Study Resources on Quizplus for this Chatper
30 Verified Questions
30 Flashcards
Source URL: https://quizplus.com/quiz/76556
Sample Questions
Q1) The process of separating the two DNA strands into two single strands is called:
A) Denaturation
B) Bidirectional
C) Depolymerization
D) Synthesis
Answer: A
Q2) Which of the following is a type II restriction enzyme recognition site?
A) GAATTC
B) GAATTG
C) GAAAAG
D) GATCAG
Answer: A
Q3) 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
To view all questions and flashcards with answers, click on the resource link above. Page 3
Chapter 2: RNA
Available Study Resources on Quizplus for this Chatper
30 Verified Questions
30 Flashcards
Source URL: https://quizplus.com/quiz/76555
Sample Questions
Q1) Transfer RNA is different from other types of RNA because transfer RNA has:
A) A 3' polyA tail
B) Introns and exons
C) A 3' methylated cap
D) Anticodons
Answer: D
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) DNA sequences that are involved in the regulation of gene expression are called:
A) Cis factors
B) Trans factors
C) Inducers
D) Repressors
Answer: A
To view all questions and flashcards with answers, click on the resource link above.
Page 4
Chapter 3: Proteins
Available Study Resources on Quizplus for this Chatper
30 Verified Questions
30 Flashcards
Source URL: https://quizplus.com/quiz/76554
Sample Questions
Q1) In the ribosome, the growing peptide moves from site to site in what direction?
A) A to E to P
B) P to A to E
C) E to P to A
D) A to P to E
Answer: D
Q2) In early experiments, a polymer of uracil, UUUUUUUU , translated into a peptide comprising only phenylalanine amino acids. What did this observation demonstrate?
A) Uracil is not a functional nucleotide.
B) UUU codes for phenylalanine.
C) RNA cannot be faithfully translated in vitro.
D) No other amino acid codon contains uracil.
Answer: B
Q3) Which of the following amino acids has a nonpolar R group?
A) Valine
B) Cysteine
C) Serine
D) Tyrosine
Answer: A
To view all questions and flashcards with answers, click on the resource link above.
Page 5
Chapter 4: Nucleic Acid Extraction Methods
Available Study Resources on Quizplus for this Chatper
25 Verified Questions
25 Flashcards
Source URL: https://quizplus.com/quiz/76553
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) 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
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
To view all questions and flashcards with answers, click on the resource link above.
6
Chapter 5: Resolution and Detection of Nucleic Acids
Available Study Resources on Quizplus for this Chatper
25 Verified Questions
25 Flashcards
Source URL: https://quizplus.com/quiz/76552
Sample Questions
Q1) 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.
Q2) 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
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
Q4) Nucleic acids migrate toward which pole in electrophoresis?
A) Cathode
B) Anode
To view all questions and flashcards with answers, click on the resource link above. Page 7
Chapter 6: Analysis and Characterization of Nucleic Acids and Proteins
Available Study Resources on Quizplus for this Chatper
30 Verified Questions
30 Flashcards
Source URL: https://quizplus.com/quiz/76551
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) Which of the following molecules comprises most membranes that bind to nucleic acids in blotting procedures?
A) Nitrocellulose
B) Agarose
C) Acrylamide
D) Formamide
Q3) A Southern blot procedure has been performed, but the molecular weight markers are the only bands seen on the gel. Apparently, the probe did not bind to its target on the membrane. How might the stringency be adjusted so that the probe will bind?
A) Decrease the incubation temperature.
B) Decrease the salt concentration.
C) Increase the formamide concentration.
D) Increase the incubation temperature.
8
To view all questions and flashcards with answers, click on the resource link above.
Chapter 7: Nucleic Acid Amplification
Available Study Resources on Quizplus for this Chatper
30 Verified Questions
30 Flashcards
Source URL: https://quizplus.com/quiz/76550
Sample Questions
Q1) Which of the following amplification procedures uses an RNA polymerase to generate amplicons?
A) Q beta replicase
B) Real-time PCR
C) Ligase chain reaction
D) Strand displacement amplification
Q2) 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
Q3) What enzyme system is used to avoid contamination in real-time PCR?
A) dUTP-UNG
B) SSP-PCR
C) UV-psoralen
D) SAP-ExoI
To view all questions and flashcards with answers, click on the resource link above.
9
Chapter 8: Chromosomal Structure and Chromosomal Mutations
Available Study Resources on Quizplus for this Chatper
30 Verified Questions
30 Flashcards
Source URL: https://quizplus.com/quiz/76549
Sample Questions
Q1) What are the structures found only at the ends of human chromosomes?
A) Kinetochores
B) Telomeres
C) Centromeres
D) Histones
Q2) In a C banding pattern, what part of the chromosome stains?
A) Whole chromosome
B) Heterochromatin
C) Euchromatin
D) Centromere
Q3) Which of the following would be most difficult to identify by karyotype?
A) Microdeletion
B) Reciprocal translocation
C) Aneuploidy
D) Polyploidy
Q4) 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.
To view all questions and flashcards with answers, click on the resource link above. Page 10
Chapter 9: Gene Mutations
Available Study Resources on Quizplus for this Chatper
25 Verified Questions
25 Flashcards
Source URL: https://quizplus.com/quiz/76548
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) Mass spectrometry detects what type or particles?
A) Uncharged
B) Ions
C) Very large proteins
D) Hydrophobic
To view all questions and flashcards with answers, click on the resource link above.
11
Chapter 10: DNA Sequencing
Available Study Resources on Quizplus for this Chatper
25 Verified Questions
25 Flashcards
Source URL: https://quizplus.com/quiz/76547
Sample Questions
Q1) The goal of the HapMap project is which of the following?
A) Find blocks of SNPs that are inherited together
B) Complete the human genome sequence
C) Compare human and primate genomes
D) Sequence all bacterial genomes
Q2) 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
Q3) 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'
To view all questions and flashcards with answers, click on the resource link above. Page 12
Chapter 11: DNA Polymorphisms and Human Identification
Available Study Resources on Quizplus for this Chatper
27 Verified Questions
27 Flashcards
Source URL: https://quizplus.com/quiz/76546
Sample Questions
Q1) 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
Q2) 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%
To view all questions and flashcards with answers, click on the resource link above.
13
Chapter 12: Detection and Identification of Microorganisms
Available Study Resources on Quizplus for this Chatper
25 Verified Questions
25 Flashcards
Source URL: https://quizplus.com/quiz/76545
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) A PCR assay using primers specific for the autolysin gene (lytA) was performed on a sputum specimen from a 10-year-old girl. The specimen was positive, and all controls were acceptable. Which of the following is the best interpretation of these results?
A) Definitive diagnosis of clinically significant Streptococcus pneumoniae pneumonia is made.
B) Streptococcus pneumoniae is present, but clinical significance is questionable.
C) Mycobacterium tuberculosis is detected, and the girl should be isolated.
D) The patient has Chlamydophila pneumoniae pneumonia.
To view all questions and flashcards with answers, click on the resource link above. Page 14
Chapter 13: Molecular Detection of Inherited Diseases
Available Study Resources on Quizplus for this Chatper
25 Verified Questions
25 Flashcards
Source URL: https://quizplus.com/quiz/76544
Sample Questions
Q1) 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
Q2) 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
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
To view all questions and flashcards with answers, click on the resource link above.
15
Chapter 14: Molecular Oncology
Available Study Resources on Quizplus for this Chatper
30 Verified Questions
30 Flashcards
Source URL: https://quizplus.com/quiz/76543
Sample Questions
Q1) Mutations in the VHL gene are associated with what condition?
A) Pediatric neuroendocrine tumors
B) Von-Hippel Landau syndrome
C) Ataxia telangiectasia
D) Li-Fraumeni syndrome
Q2) 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
Q3) This test is used to determine if the mismatch repair system is functioning normally.
A) Translocation of DNA between chromosomes
B) Microsatellite instability
C) Clonality of immunoglobulin gene rearrangements
D) Overexpression of Her2/neu
To view all questions and flashcards with answers, click on the resource link above.
16
Chapter 15: Dna-Based Tissue Typing
Available Study Resources on Quizplus for this Chatper
31 Verified Questions
31 Flashcards
Source URL: https://quizplus.com/quiz/76542
Sample Questions
Q1) DNA-based typing methods are used for which of the following?
A) Determining serum antibody status
B) Crossmatching donors and recipients
C) Measuring T-cell-mediated cytotoxicity
D) Identifying HLA types
Q2) Which of the following methods that can be used to determine HLA types is only a low-resolution method?
A) PCR-SSP
B) PCR-SSOP
C) CDC
D) SBT
Q3) Which of the following molecular-based methods can be used to perform HLA typing?
A) Southern blot
B) Sequencing
C) Single-strand conformation polymorphism
D) Pulsed field gel electrophoresis
To view all questions and flashcards with answers, click on the resource link above.
17
Chapter 16: Quality Assurance and Quality Control in the Molecular Laboratory
Available Study Resources on Quizplus for this Chatper
30 Verified Questions
30 Flashcards
Source URL: https://quizplus.com/quiz/76541
Sample Questions
Q1) Which is the proper way to report a threonine-to-methionine mutation at amino acid position 790?
A) 790 T>M
B) M790T
C) T790M
D) TM790
Q2) Which of the following organizations provides oversight and governs the use the radioactive materials in the clinical laboratory?
A) National Fire Protection Association
B) Nuclear Regulatory Commission
C) Clinical Laboratory Improvement Amendments
D) American Society for Clinical Laboratory Science
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
To view all questions and flashcards with answers, click on the resource link above.
Page 18