Human Genetics
Final Exam Questions
Course Introduction
Human Genetics explores the principles and mechanisms underlying inheritance and variation in humans. This course examines the structure and function of genes and chromosomes, patterns of Mendelian and non-Mendelian inheritance, genetic mutations, and the molecular basis of genetic disorders. Topics include genetic mapping, the impact of genomics and biotechnology, ethical considerations in genetic research, and applications in medicine and public health. Case studies and current research are integrated to illustrate how human genetics informs our understanding of disease, development, and evolution.
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) Restriction endonucleases are enzymes that are produced by bacteria and __________.
A) degrade viral proteins
B) digest DNA
C) have no laboratory applications
D) degrade lipids
Answer: B
Q2) The movement of DNA from one bacterium to another through the activity of bacteriophages is called:
A) Conjugation
B) Transformation
C) Transduction
D) Crossing over
Answer: C
Q3) In a double-stranded DNA molecule, base pairing between strands occurs between:
A) A purine and a purine
B) A pyrimidine and a pyrimidine
C) A purine and a pyrimidine
D) Any type of nucleotide base
Answer: C
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Chapter 2: RNA
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Sample Questions
Q1) MicroRNAs, short endogenous RNA, perform what function in the eukaryotic cell?
A) Controlling DNA replication
B) Priming RNA synthesis
C) RNA splicing
D) Repressing gene expression
Answer: D
Q2) 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
Q3) If the following oligonucleotide of double-stranded DNA were transcribed, what would be the sequence of the RNA? 5'TGCTAGCTA3'
3'ACGATCGAT5'
A) 5'UGCUAGCUA3'
B) 5'ACGAUCGAU3'
C) 3'ACGATCGAT5'
D) 3'ACGAUCGAU5'
Answer: A
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Chapter 3: Proteins
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Sample Questions
Q1) In translation, what is the starting material, the ending material, and the major enzyme that catalyzes the process?
A) DNA, RNA, DNA polymerase
B) RNA, protein, peptidyl transferase
C) RNA, DNA, reverse transcriptase
D) DNA, RNA, RNA polymerase
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) The enzyme that bonds two amino acids together in protein synthesis is:
A) Peptidyl transferase
B) Protein synthetase
C) Amino acid polymerase
D) Aminoacyl tRNA synthetase
Answer: A
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Page 5
Chapter 4: Nucleic Acid Extraction Methods
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Sample Questions
Q1) DNA is isolated from a clinical sample. The absorbance at 260 nm is 0.489, and the absorbance at 280 nm is 0.257. Is this sample of sufficient quality for use in subsequent analyses?
A) Yes
B) No
C) Cannot be determined with the data given
Q2) In inorganic DNA isolation, or "salting out" procedures, in the presence of low-pH and high-salt concentrations, which intracellular component precipitates out of solution?
A) DNA
B) RNA
C) Carbohydrate
D) Protein
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) 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 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
Q3) 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.
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Chapter 6: Analysis and Characterization of Nucleic Acids and Proteins
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Sample Questions
Q1) What was the great advantage to molecular analysis offered by Southern blot?
A) Ability to analyze specific regions of DNA without cloning them
B) A rapid method to eliminate DNA contaminants
C) A more efficient buffer system
D) Ability to analyze nanogram amounts of DNA
Q2) 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
Q3) What is the next step in the Southern blot procedure after restriction enzyme digestion?
A) Denaturation
B) Gel electrophoresis
C) Blotting to a membrane
D) Probe hybridization
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Chapter 7: Nucleic Acid Amplification
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Sample Questions
Q1) Which of the following techniques is a primer-directed in vitro enzymatic reaction for the production of multiple copies of a specific DNA fragment found in a clinical sample?
A) Strand displacement amplification
B) Polymerase chain reaction
C) Cleavage-based amplification
D) Hybrid capture assay
Q2) What enzyme system is used to avoid contamination in real-time PCR?
A) dUTP-UNG
B) SSP-PCR
C) UV-psoralen
D) SAP-ExoI
Q3) In which of the following nucleic acid amplification procedures is a hybrid nucleic acid labeled with detectable signal?
A) Polymerase chain reaction
B) Strand displacement amplification
C) Transcription-mediated amplification
D) Hybrid capture assay
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Chapter 8: Chromosomal Structure and Chromosomal Mutations
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Sample Questions
Q1) Colcemid is used in the procedure of preparing a chromosome spread for karyotype analysis to do which of the following?
A) Spread the chromosomes out within the cell
B) Inhibit microtubule formation
C) Induce cells to enter mitosis
D) Fix cells to the slide prior to staining
Q2) What is the designation of a cell with three copies of every chromosome?
A) Euploid
B) Diploid
C) Triploid
D) Tetraploid
Q3) A reciprocal translocation is which type of mutation?
A) Gene
B) Genome
C) Chromosome
D) Nucleotide
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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) 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
Q3) The codon UGG is mutated to UGA. What will happen to the encoded protein?
A) The encoded protein will be larger than the protein encoded by the original sequence.
B) The encoded protein will be prematurely terminated.
C) The encoded protein will be more hydrophilic.
D) The encoded protein will not be affected.
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Chapter 10: DNA Sequencing
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Sample Questions
Q1) Dye terminator sequencing has been performed using capillary electrophoresis to separate the fragments. ddATP has been labeled with a "green" fluor, ddTTP with "red," ddCTP with "blue," and ddGTP with "black." The colors are detected in the following order: red, green, black, red, green, blue, red, black, black, green, blue. What is the sequence of this fragment?
A) TCGTCATGGAC
B) GCTACGTAATG
C) CAGGTCATGAT
D) TAGTACTGGAC
Q2) What part of the human genome accounts for encoded proteins?
A) 75%
B) 50%
C) 10%
D) 2%
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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Page 12
Chapter 11: DNA Polymorphisms and Human Identification
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Sample Questions
Q1) A woman has been sexually assaulted by an unknown man. Which of the following laboratory procedures can be used to more accurately analyze residual DNA left by the man in an effort to identify him?
A) RFLP
B) STR
C) Y-STR
D) VNTR
Q2) 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
Q3) THO1, D8S1179, and D2S11 are examples of which of the following?
A) RFLP
B) SINE
C) STR
D) SNP
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Page 13
Chapter 12: Detection and Identification of Microorganisms
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Sample Questions
Q1) 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
Q2) Which is a flow cytometry test?
A) Hybrid capture
B) NASBA
C) TMA
D) HPV OncoTect
Q3) A positive control is added (spiked) into a test specimen. The test results of the specimen alone and the spiked mixture are negative. What does this most likely indicate?
A) The specimen is negative.
B) The specimen is positive.
C) The specimen contains an inhibitor.
D) The positive control contains an inhibitor.
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14
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) Almost all sex-linked disorders involve which of the following chromosomes?
A) X
B) Y
C) 1
D) 22
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15
Chapter 14: Molecular Oncology
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Sample Questions
Q1) 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
Q2) 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
Q3) Mutations in which of the following oncogenes are the most common oncogene mutations seen in human cancers?
A) HER2/neu
B) EGFR
C) K-ras
D) EWS
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Chapter 15: DNA-Based Tissue Typing
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Sample Questions
Q1) Which is in the MHC class II region?
A) HLA-A
B) Complement C2
C) TNF-alpha
D) HLA-D
Q2) A husband volunteers to be the donor for his wife's organ transplant. In pre-transplantation testing, the woman's serum was mixed in vitro with lymphocytes from her husband. After a few hours, complement and Trypan blue were added to the culture well. The cells were observed under the microscope and determined to be viable. What is the interpretation of this assay?
A) The husband has antibodies that recognize his wife's cells.
B) The wife has antibodies that recognize her husband's cells.
C) The husband cannot donate his organ to his wife.
D) The husband can donate his organ to his wife.
Q3) 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
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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) 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
Q3) 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
Page 18
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