Genomics and Personalized Medicine
Question Bank
Course Introduction
Genomics and Personalized Medicine explores the rapidly advancing field of genome science and its transformative impact on healthcare. The course covers fundamental concepts of genetics, high-throughput sequencing technologies, and data analysis approaches used to interrogate human genomes. Students examine how genomics informs the understanding of disease mechanisms, risk assessment, and the development of targeted therapies. Ethical, legal, and social implications of integrating genomic data into clinical practice are considered, with practical examples illustrating the promise and challenges of personalized medicine in areas such as oncology, pharmacogenomics, and rare genetic disorders. Through lectures, case studies, and critical discussions, students gain a comprehensive overview of how genomics is reshaping modern medicine.
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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Page 2
Chapter 1: The History and Impact of Genetics in Medicine
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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 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
Q3) 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
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Chapter 2: The Cellular and Molecular Basis of Inheritance
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Sample Questions
Q1) Which of the following are sequences that closely resemble other genes but are not themselves functionally expressed?
A) Introns
B) Pseudogenes
C) Satellite DNA
D) Tandem repeats
E) Junk DNA
Answer: B
Q2) Which of the following are involved in translational regulation?
A) rRNA
B) miRNA
C) tRNA
D) mRNA
E) All of the above
Answer: B
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4
Chapter 3: Chromosomes and Cell Division
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Sample Questions
Q1) The significance of a Robertsonian translocation is which of the following?
A) The loss of the sequences in the p arms of the involved chromosomes
B) Inability of the involved chromosomes to recombine
C) The risk of an unbalanced chromosome complement in gametes
D) Loss of chromosomal material in somatic cells during mitosis
E) Robertsonian translocations are generally benign
Answer: C
Q2) Which of the following can be found in normal carrier individuals?
A) Paracentric inversions
B) Translocations
C) Pericentric inversions
D) Deletions
E) All of the above
Answer: E
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Chapter 4: Dna Technology and Applications
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Sample Questions
Q1) 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
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) Which type of marker is used for DNA fingerprinting?
A) SNP
B) Microsatellite
C) Indel
D) Minisatellite
E) Copy number variant
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Page 6
Chapter 5: Mapping and Identifying Genes for Monogenic Disorders
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Sample Questions
Q1) 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
Q2) What supporting evidence can be used to decide whether variation in a gene is actually a mutation?
A) It is never found in people without the phenotype of interest
B) It must be in an exon
C) Additional variation is found in the same gene in other people with a similar phenotype
D) It is expressed only in a tissue relevant to the phenotype
E) All of the above
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Chapter 6: Developmental Genetics
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Sample Questions
Q1) Which of the following types of developmental disorders are associated with mutations in the fibroblast growth factor receptor family?
A) Congenital heart defects
B) Holoprosencephaly
C) Achondroplasias
D) Defects in ocular development
E) Defects in pigmentation
Q2) Which of the following is a phenotype associated with mutations in the sonic hedgehog signaling pathway?
A) Holoprosencephaly
B) Osteogenesis imperfecta
C) Primary sex reversal
D) Spina bifida
E) All of the above
Q3) Proteins that contain a zinc finger motif share what function?
A) Kinase
B) Phosphatase
C) Protease
D) Transcription factor
E) Inducers of apoptosis
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Chapter 7: Patterns of Inheritance
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Sample Questions
Q1) Which term is used to describe a disorder that occurs only in individuals of a particular sex?
A) Sex-influenced
B) Y-linked
C) X-linked
D) Sex-limited
E) Sex-determined
Q2) Traits that are observed in individuals who are heterozygous for mutations at two different loci are called
A) Digenic traits
B) Biallelic traits
C) Compound heterozygotes
D) Compound traits
E) Epistatic traits
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) How is artificial selection against a genetic disorder predicted to affect the disease incidence in the autosomal dominant and autosomal recessive cases,respectively?
A) Decrease rapidly, decrease rapidly
B) Decrease rapidly, decrease slowly
C) Decrease slowly, decrease rapidly
D) Stay the same, decrease slowly
E) Decrease slowly, stay the same
Q2) What selective agent has resulted in heterozygote advantage for thalassemia mutation carriers?
A) Influenza
B) Plague
C) Tuberculosis
D) AIDS
E) Falciparum malaria
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10
Chapter 9: Polygenic and Multifactorial Inheritance
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Sample Questions
Q1) Which of the following is NOT true of familial aggregation of a trait?
A) One should compare the clustering of the trait in affected families compared to the general population
B) Family clustering proves there is a genetic contribution to the trait
C) Increased trait sharing in monozygotic compared to dizygotic twins suggests a genetic contribution to the trait
D) Traits with a genetic liability will show familial aggregation
E) These studies can be plagued by ascertainment bias
Q2) 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
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Chapter 10: Hemoglobin and the Hemoglobinopathies
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Sample Questions
Q1) 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
Q2) 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
Q3) This region regulates the switching of the b-like globin chains during development.
A) Locus control region
B) Master globin regulator
C) Imprinting control region
D) Globin switch
E) Immediate early region
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Chapter 11: Biochemical Genetics
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Sample Questions
Q1) What pattern of inheritance is most often associated with disorders of mitochondrial function?
A) Autosomal dominant
B) Autosomal recessive
C) Maternal inheritance
D) X-linked dominant
E) X-linked recessive
Q2) Which of the following may be associated with hyperphenylalaninemia that is refractory to management of dietary phenylalanine?
A) Tetrahydrobiopterin deficiency
B) Complete loss of phenylalanine hydroxylase activity
C) Dominant negative mutation in phenylalanine hydroxylase
D) Maternal PKU
E) Deficiency in phenylalanine uptake
Q3) 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
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Chapter 12: Pharmacogenetics
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Sample Questions
Q1) Which of the following should be avoided in an individual with a mutation in the ryanodine receptor RYR1?
A) Anesthesia using halothane
B) Periods of fasting
C) Isoniazid treatment
D) Chemotherapy with 5-fluorouracil
E) Alcohol consumption
Q2) 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
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14
Chapter 13: Immunogenetics
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Sample Questions
Q1) 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
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) For which of the following tissues is homograft rejection not an issue?
A) Bone marrow
B) Liver
C) Kidney
D) Heart
E) Cornea
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Chapter 14: Cancer Genetics
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8 Flashcards
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Sample Questions
Q1) How does the Philadelphia chromosome activate an oncogene?
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
Q2) 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
Q3) 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
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Page 16
Chapter 15: Genetic Factors in Common Diseases
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Sample Questions
Q1) One could best tease apart the genetic and environmental causes of a trait through comparisons of which of the following groups?
A) First-degree relatives versus second-degree relatives
B) Sisters versus brothers
C) Monozygotic versus dizygotic twins
D) Parents versus children
E) Twins versus siblings
Q2) What is the major locus contributing to type 1 diabetes?
A) HNF1A
B) CARD15
C) HLA
D) TCF7L2
E) APOE
Q3) Which of the following classes of proteins has been associated with several genetic forms of epilepsy?
A) Transcription factors
B) Chaperones
C) Mitochondrial proteins
D) Ion channels
E) Growth factor receptors
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Chapter 16: Congenital Abnormalities and Dysmorphic Syndromes
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Sample Questions
Q1) 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
Q2) Which of the following statements is true of holoprosencephaly?
A) It is always caused by a chromosomal defect
B) It is the defective cleavage of the forebrain
C) It is a feature of Sotos syndrome
D) It occurs only as an isolated malformation
E) None of the above
Q3) 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
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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) 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
Q2) Which of the following is the most common finding in chromosomal analysis of Down syndrome?
A) Trisomy 21 with the extra copy being maternal in origin
B) Trisomy 21 with the extra copy being paternal in origin
C) Robertsonian translocation involving chromosome 21
D) Mosaicism for trisomy 21
E) A and B are equally likely
Q3) Which of the following is a definite indication for chromosome analysis?
A) Multiple congenital abnormalities
B) Diaphragmatic hernia
C) Single palmar crease
D) Cleft lip
E) All of the above
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Chapter 19: Single-Gene Disorders
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Sample Questions
Q1) Café-au-lait spots are a feature of what phenotype?
A) Charcot-Marie-Tooth disease
B) Myotonic dystrophy
C) Neurofibromatosis
D) Huntington disease
E) Marfan syndrome
Q2) Which of the following is true of CFTR mutations?
A) Mutations affecting the function of CFTR are always associated with a classic CF phenotype
B) There are clear genotype-phenotype correlations for CFTR mutations
C) Mutations can present as congenital bilateral absence of the vas deferens as the sole phenotype
D) The IVS8 9T variant allele causes classic CF
E) Pancreatic insufficiency is rarely found in people with the DF508 mutation
Q3) Neurofibromin downregulates the activity of which protein?
A) p53
B) RAS
C) RB
D) HNF1A
E) CAPN10
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Chapter 20: Screening for Genetic Disease
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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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Q1) 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
Q2) Detection of a rocker-bottom foot on ultrasonography is suggestive of which chromosomal abnormality?
A) Trisomy 21
B) Trisomy 18
C) Trisomy 13
D) Philadelphia chromosome
E) Monosomy X
Q3) 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
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Chapter 22: Risk Calculation
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Sample Questions
Q1) A couple would like to have 3 children,all boys.If they do,in fact,have 3 children,what is the probability that they will all be boys?
A) 1/8
B) 1/6
C) 1/4
D) 1/3
E) 1/2
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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Chapter 23: Treatment of Genetic Disease
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Q1) 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
Q2) 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
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Chapter 24: Ethical and Legal Issues in Medical Genetics
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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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