Genomics and Personalized Medicine Exam Bank
Course Introduction
Genomics and Personalized Medicine explores the rapidly advancing field of genetics and its transformative impact on healthcare. The course covers the structure and function of genomes, the technologies used to sequence and analyze genetic information, and how these insights are applied to diagnose, treat, and prevent diseases on an individual level. Topics include the ethical, legal, and social implications of genetic data, pharmacogenomics, and emerging trends in precision therapeutics. Students will gain a comprehensive understanding of how genomic information is integrated into clinical practice, ultimately leading to more effective, tailored healthcare solutions.
Recommended Textbook
Emerys Elements of Medical Genetics 14th Edition by Peter Turnpenny
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24 Chapters
149 Verified Questions
149 Flashcards
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Chapter 1: The History and Impact of Genetics in Medicine
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3 Verified Questions
3 Flashcards
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Sample Questions
Q1) Which of the following can be used to determine the potential genotypes of offspring from a simple Mendelian cross?
A) Punnett square
B) Hardy-Weinberg equilibrium
C) Bayesian analysis
D) Law of independent assortment
E) Rules of probability
Answer: A
Q2) Which of the following causes deviations from the law of independent assortment?
A) The genes of interest are on the same chromosome
B) The genes of interest are linked
C) Homologous recombination between genes
D) Nonhomologous recombination
E) Nondisjunction
Answer: B
Q3) Which of the following is generally true for genetic diseases?
A) The incidence is less than the prevalence
B) The incidence is greater than the prevalence
C) The incidence equals the prevalence
Answer: B
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Chapter 2: The Cellular and Molecular Basis of Inheritance
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16 Verified Questions
16 Flashcards
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Sample Questions
Q1) How many types of RNA are involved in translation?
A) 1
B) 2
C) 3
D) 4
Answer: C
Q2) Mutations in genes important for which pathway are often associated with cancer?
A) DNA repair
B) Oxidative phosphorylation
C) DNA replication
D) Protein translation
E) All of the above
Answer: A
Q3) Which of the following are encoded by the mitochondrial genome?
A) All mitochondrial proteins
B) Mitochondrial DNA polymerase
C) Proteins involved in oxidative phosphorylation
D) Mitochondrial transcription factors
E) Ribosomal proteins
Answer: C
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Chapter 3: Chromosomes and Cell Division
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7 Verified Questions
7 Flashcards
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Sample Questions
Q1) Which of the following refers to the central constriction of a chromosome?
A) Telomere
B) Centromere
C) Centriole
D) Chromatid
E) Central repeat
Answer: B
Q2) What is the value of chromosome banding?
A) The chromosomes can be visualized
B) All chromosomes stain similarly
C) Each chromosome has a characteristic banding pattern
D) Genes are stained
E) Specific DNA sequences can be visualized
Answer: C
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Chapter 4: Dna Technology and Applications
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Sample Questions
Q1) Which type of marker is used for DNA fingerprinting?
A) SNP
B) Microsatellite
C) Indel
D) Minisatellite
E) Copy number variant
Q2) What is the advantage of using a VNTR over SNP as a genetic marker?
A) There are more VNTRs in the genome
B) VNTRs are less variable
C) There are generally more alleles for each VNTR than for each SNP
D) VNTRs are located within genes
E) VNTRs are more likely to be mutations rather than polymorphisms
Q3) Why are dideoxynucleotides added to the reaction in the Sanger sequencing methodology?
A) They label the DNA strands
B) They cause termination of the replicating strand
C) They allow longer processivity of the DNA polymerase
D) They cement the newly synthesized strand to the template strand
E) There is a lower chance of mutation during the sequencing reaction
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Page 6
Chapter 5: Mapping and Identifying Genes for Monogenic Disorders
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3 Flashcards
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Sample Questions
Q1) What is a contig?
A) A series of genetic markers across a genome
B) A series of markers across a chromosome
C) A series of clones with overlapping DNA that spans a particular genetic region
D) A series of clones from a variety of individuals that represent that same genetic region
E) A series of clones from a variety of organisms that represent syntenic regions
Q2) The human genome contains approximately how many base pairs of DNA?
A) 3 x 10
B) 3 x 10
C) 3 x 10
D) 3 x 10
E) 3 x 10¹
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Chapter 6: Developmental Genetics
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9 Flashcards
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Sample Questions
Q1) An infertile female is found to have a 46,XY karyotype.Within which region is she likely to have a mutation or deletion?
A) Pseudoautosomal region
B) SRY
C) XIST
D) One of the AZF regions
E) DAZ
Q2) Which of the following are true of DNA methylation during reproduction?
A) The sperm and egg DNA maintain their methylation patterns throughout gametogenesis
B) The sperm and egg DNA maintain their methylation patterns in the embryo
C) Methylation patterns in both the egg and sperm DNA are erased at fertilization and re-established in a single wave
D) Only the sperm DNA loses its methylation pattern after fertilization
E) A series of methylation and demethylation events occurs during gametogenesis, fertilization, and implantation in both gametes
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Chapter 7: Patterns of Inheritance
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Sample Questions
Q1) Autosomal dominant inheritance for a mutation can usually be ruled out when which of the following is observed in a family?
A) The disease skips a generation
B) An affected child is born to unaffected parents
C) Transmission from father to son
D) The phenotype varies between affecteds in the family
E) The parents of the proband are consanguineous
Q2) When there is more than one mtDNA complement present in an individual,this is known as which of the following?
A) Heteroplasmy
B) Multiallelism
C) Heterogeneity
D) Pleiotropy
E) Mitochondrial variance
Q3) Which of the following traits may exhibit holandric inheritance?
A) Baldness
B) Defects in spermatogenesis
C) Webbed toes
D) Red-green color blindness
E) All of the above
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Chapter 8: Population and Mathematical Genetics
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Sample Questions
Q1) What is the explanation for the relatively high frequency of rare autosomal recessive disorders in the Old Order Amish population?
A) Assortative mating
B) Positive selection
C) Negative selection
D) Founder effect
E) Heterozygote advantage
Q2) To search for loci involved in autosomal recessive diseases,which alternative approach to a traditional linkage analysis can be used?
A) Look for shared alleles between affected families
B) Look for shared regions of deletion between affected families
C) Look for regions of homozygosity in affected families
D) Look for uniparental heterodisomy
E) Look for uniparental homodisomy
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Chapter 9: Polygenic and Multifactorial Inheritance
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Sample Questions
Q1) What is population stratification?
A) Separation of a cohort into cases and controls
B) Separation of a cohort by ethnicity
C) A false positive association due to the presence of unrecognized subpopulations in a cohort
D) The use of subsets of a cohort in both family-based and case-control association studies
E) A false negative study due to heterogeneity in a cohort
Q2) For multifactorial traits,how would the liability threshold model predict that a second affected child in a family would alter risk estimates for future pregnancies?
A) The risk estimate would increase
B) The risk estimate would decrease
C) The risk estimate would remain the same
D) The chances would be exceedingly small that there would be a third affected child
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11
Chapter 10: Hemoglobin and the Hemoglobinopathies
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Sample Questions
Q1) Which of the following statements is true of the sickle cell trait-associated form of hemoglobin,Hb S?
A) It is characterized by a relative deficiency of a chains versus b chains
B) It has increased oxygen binding affinity relative to Hb A
C) It is less soluble than Hb A
D) It is dominant to Hb A
E) Therapeutic approaches have been highly successful in alleviating phenotypes associated with Hb S
Q2) Which of the following statements is true regarding the a1 and a2 globin chains?
A) They are identical at the nucleotide and amino acid sequence level
B) They differ at the nucleotide level but are identical at the amino acid level
C) a1 pairs only with b1, and a2 pairs only with b2
D) a1 is expressed in the fetus, and a2 is expressed after birth
E) a2 is a pseudogene of a1
Q3) The HbA form of hemoglobin consists of which globin chains?
A) 1 a, 1 b
B) 2 a, 2 b
C) 2 a
D) 2 a, 2 g
E) 1 a, 1 g
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Chapter 11: Biochemical Genetics
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9 Verified Questions
9 Flashcards
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Sample Questions
Q1) How does MCAD deficiency usually present?
A) In adulthood, with myopathy
B) In early childhood, after an illness that leads to fasting
C) In childhood, with progressive vision loss
D) In early adulthood, with a thrombotic event
E) Any of the above
Q2) What is the primary defect causing familial hypercholesterolemia?
A) Defective or deficient LDL receptors
B) Defective HMG-CoA reductase
C) Deficiency of acyltransferase
D) Deficiency of phospholipase C
E) Deficiency of hexosaminidase A
Q3) What modification has increased the success of enzyme replacement therapy for Gaucher disease?
A) Using larger doses of enzyme
B) Targeting the enzyme to cross the blood-brain barrier
C) Modifying the enzyme so that it is targeted to macrophage lysosomes
D) Providing the enzyme in conjunction with a bone marrow transplant
E) Removal of the spleen before treatment
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Page 13
Chapter 12: Pharmacogenetics
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4 Flashcards
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Sample Questions
Q1) For the most effective use of Herceptin in breast cancer treatment,molecular testing for which of the following proteins should be performed before the drug is prescribed?
A) BRCA1
B) BRCA2
C) HER2
D) EGFR
E) MTHFR
Q2) What would you predict about the genes involved in a drug's metabolism if you see a discontinuous dose-response curve in a population?
A) One gene is mainly responsible for the metabolism
B) The number of genes involved in the metabolism is equal to the number of peaks in the response curve
C) There are multiple genes involved in the metabolism, but this would not tell you how many
D) There is a threshold for induction of the gene involved in the metabolism
E) A dose-response curve provides no information on the genetics of drug metabolism
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Chapter 13: Immunogenetics
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Sample Questions
Q1) For which of the following tissues is homograft rejection not an issue?
A) Bone marrow
B) Liver
C) Kidney
D) Heart
E) Cornea
Q2) Deficiency for which of the following causes severe combined immunodeficiency syndrome?
A) Rhesus factor
B) Adenosine deaminase
C) WAS
D) CD69
E) CYP21
Q3) Which of the following processes is involved in immunoglobulin gene rearrangement?
A) Meiotic recombination
B) Somatic recombination
C) Nonhomologous end joining
D) Gene synapsis
E) Diakinesis
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Chapter 14: Cancer Genetics
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8 Verified Questions
8 Flashcards
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Sample Questions
Q1) Which of the following classes of proteins are likely to be encoded by proto-oncogenes?
A) Mismatch repair proteins
B) Apoptosis inducing proteins
C) Negative regulators of the cell cycle
D) Growth factor receptors
E) Proteins involved in homologous recombination
Q2) How is the translocation between chromosomes 8 and 14 thought to cause Burkitt lymphoma?
A) It puts a proto-oncogene downstream of a strong promoter
B) It fuses a proto-oncogene with another protein and alters its activity
C) It deletes its opposing tumor suppressor
D) It deletes a regulatory region for the gene
E) It removes its 3' UTR
Q3) Loss of telomerase expression prevents cells from doing which of the following?
A) Repairing mismatch mutations
B) Regulating their cell cycle appropriately
C) Dividing indefinitely
D) Synthesizing the leading DNA strand during replication
E) Becoming senescent
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Chapter 15: Genetic Factors in Common Diseases
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Sample Questions
Q1) What is the major locus contributing to type 1 diabetes?
A) HNF1A
B) CARD15
C) HLA
D) TCF7L2
E) APOE
Q2) If a migrant group moves from an area with a low incidence of a particular disease to an area with a high incidence of that disease and the disease incidence in that group subsequently increases to match the incidence in the second location,what does this suggest about the disease etiology?
A) It is mostly genetic
B) It is mostly environmental
C) It is caused by both genetic and environmental factors
D) It is caused by food
E) Further research needs to be done
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Chapter 16: Congenital Abnormalities and Dysmorphic Syndromes
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Sample Questions
Q1) What causes a "sequence" of multiple abnormalities?
A) A single gene that is expressed in several tissues
B) A single disruptive force that acts in multiple areas of the body
C) A cascade of events initiating from one initial insult
D) A genetic deletion that includes multiple genes
E) Aneuploidy
Q2) Which of the following is NOT associated with teratogenic effects?
A) Folic acid consumption
B) Hyperthermia
C) Toxoplasmosis infection
D) Radiation exposure
E) Alcohol consumption
Q3) Which of the following would be considered a deformation?
A) Diaphragmatic hernia
B) Cleft lip
C) Neural tube defect
D) Club foot
E) Epicanthic folds
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Chapter 17: Genetic Counseling
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Sample Questions
Q1) Which of the following should be a feature of genetic counseling sessions?
A) A follow-up letter should be given to the consultand to help with information recall
B) It should be nondirective
C) Risk figures should be conveyed in a manner that gives them context
D) Technical terms should be used sparingly and should be thoroughly defined
E) All of the above
Q2) If we assume that the average person carries one deleterious autosomal recessive mutation,what is the risk that the child of an uncle-niece mating will be homozygous for one of the mutations present in the parents of the child's father?
A) 1/64
B) 1/32
C) 1/16
D) 1/11
E) 1/8
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Chapter 18: Chromosome Disorders
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Sample Questions
Q1) Which of the following is the most common inherited cause of learning difficulties?
A) Fragile X syndrome
B) Down syndrome
C) Turner syndrome
D) Klinefelter syndrome
E) Williams syndrome
Q2) What molecular feature of the chromosome 22q11 region leads to its propensity for deletions?
A) High GC content
B) The presence of a fragile site
C) It is flanked by low copy repeats
D) It is imprinted
E) Secondary structure of the DNA
Q3) What is the most common defect causing male pseudohermaphroditism?
A) Lack of testosterone production
B) Defective androgen receptors
C) Mosaicism for 45,X/46,XY
D) Inappropriate estrogen expression
E) Loss of Y chromosome pseudoautosomal region
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Page 20
Chapter 19: Single-Gene Disorders
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Sample Questions
Q1) Neurofibromin downregulates the activity of which protein?
A) p53
B) RAS
C) RB
D) HNF1A
E) CAPN10
Q2) Although deletions in the dystrophin gene cause both Duchenne and Becker muscular dystrophy,what feature is shared by the Becker MD-associated mutations?
A) They maintain the reading frame
B) They are smaller
C) They occur in the 5' region of the gene
D) They occur in the 3' region of the gene
E) They delete an alternate exon
Q3) Which of the following is potentially the most severe aspect of Marfan syndrome?
A) Blindness
B) Sprains due to joint laxity
C) Dilatation of the ascending aorta
D) Mental retardation
E) Low blood pressure due to excessive height
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Page 21
Chapter 20: Screening for Genetic Disease
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Sample Questions
Q1) Which of the following criteria should be met for a disorder to be included in a newborn screening program?
A) The disorder must be fairly common
B) The test for the disorder must have high sensitivity
C) The test for the disorder must have high specificity
D) There must be an intervention available for the disorder
E) All of the above
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Chapter 21: Prenatal Testing and Reproductive Genetics
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Sample Questions
Q1) There is evidence that children conceived as a result of artificial reproductive technologies are at greater risk of what type of disorder?
A) Aneuploidy
B) Single gene disorders
C) Imprinting disorders
D) Balanced translocations
E) Mitochondrial disorders
Q2) Which of the following is used as a prenatal screen for Down syndrome?
A) Ultrasonography for polydactyly
B) Ultrasonography for increased nuchal translucency
C) Increased maternal serum AFP
D) Ultrasonography for brain malformations
E) All of the above
Q3) Which of the following is a disadvantage of chorionic villus sampling compared to amniocentesis?
A) The need to culture cells before diagnostics can be performed
B) CVS is done later in pregnancy than amniocentesis
C) Higher rates of complication
D) Biochemical analyses cannot be performed on CVS samples
E) Fewer chromosomes can be analyzed specifically
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Chapter 22: Risk Calculation
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Sample Questions
Q1) How is a posterior probability calculated?
A) It equals the sum of all joint probabilities
B) It equals the prior probability minus the sum of all joint probabilities
C) It equals the probability of the event of interest divided by the sum of all joint probabilities
D) It equals the prior probability of the event of interest divided by the sum of all joint probabilities
E) It equals the product of the prior probability of the event of interest times the joint probabilities
Q2) A baby tests negative by newborn screening for cystic fibrosis mutations using a mutation panel that will detect 70% of mutations in this population.If there is a carrier frequency of 1/50 in this population,what is the probability that the baby is a mutation carrier?
A) 1/333
B) 1/164
C) 1/111
D) 1/71
E) 1/36
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24
Chapter 23: Treatment of Genetic Disease
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Sample Questions
Q1) How might antisense oligonucleotides be used to alleviate the severity of Duchenne muscular dystrophy?
A) By causing the degradation of mutant transcripts
B) By upregulating the expression of the mutant gene
C) By blocking the transcription of the mutant gene
D) By replacing the mutant sequence
E) By blocking exon splice enhancers so that the exon containing the mutation is skipped
Q2) According to our current understanding,what makes embryonic stem cells unique compared to other stem cells?
A) They can be engineered to express exogenous DNA
B) Larger DNA segments can be expressed in them
C) They are not rejected by the immune system
D) They can differentiate into any cell type
E) If injected into the bloodstream, they will home to the appropriate location in the body
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25
Chapter 24: Ethical and Legal Issues in Medical Genetics
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Sample Questions
Q1) Under what condition is it recommended that genetic testing of children be available?
A) Whenever it is requested
B) When the parents request it
C) When there is a medical benefit to the testing
D) When the parents want to know risks to future children
E) None of the above
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