Genomic Medicine
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Course Introduction
Genomic Medicine explores the role of genome structure, function, and variation in human health and disease. The course covers the principles of genetics and genomics, advances in sequencing technologies, and the interpretation of genomic data. Students will learn how genomic information is applied to the diagnosis, prevention, and treatment of diseases such as cancer, rare genetic disorders, and common multifactorial diseases. Ethical, legal, and social implications (ELSI) of genomic medicine, as well as case studies of personalized medicine, are discussed to provide a comprehensive understanding of this rapidly advancing field.
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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Sample Questions
Q1) 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
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 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
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Chapter 2: The Cellular and Molecular Basis of Inheritance
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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) Which of the following distinguishes lagging strand from leading strand synthesis during DNA replication?
A) 5' to 3' direction
B) Continuous synthesis
C) Okazaki fragments
D) Requirement for DNA polymerase
E) Requirement for DNA helicase
Answer: C
Q3) Gain of function mutations exhibit which inheritance pattern?
A) Dominant
B) Recessive
C) Dominant negative
D) Any of the above
Answer: A
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Chapter 3: Chromosomes and Cell Division
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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) 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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Q1) 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
Q2) Which type of marker is used for DNA fingerprinting?
A) SNP
B) Microsatellite
C) Indel
D) Minisatellite
E) Copy number variant
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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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) 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 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
Q2) 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
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8
Chapter 7: Patterns of Inheritance
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Sample Questions
Q1) Which modification distinguishes the maternal from the paternal allele in imprinted regions?
A) Phosphorylation
B) Methylation
C) Glycosylation
D) Acetylation
E) Glucosylation
Q2) Which of the following is the molecular explanation for genetic anticipation?
A) Mitochondrial mutations
B) Heteroplasmy
C) Trinucleotide repeat expansions
D) Skewed X-inactivation
E) Mutational selection
Q3) Which of the following terms is used to describe the fact that mutations in a single gene can have more than one phenotypic effect?
A) Pleiotropy
B) Variable expressivity
C) Variable penetrance
D) Heteroplasmy
E) Mosaicism
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Chapter 8: Population and Mathematical Genetics
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Sample Questions
Q1) What is a measure of?
A) Distance between genetic loci
B) Natural selection
C) Genetic drift
D) Migration
E) Genetic contribution to a trait
Q2) Which of the following describes the relative genotype frequencies in a randomly mating population?
A) Law of random segregation
B) Law of natural selection
C) Hardy-Weinberg principle
D) Law of independent assortment
E) Darwin's principle
Q3) 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
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Chapter 9: Polygenic and Multifactorial Inheritance
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Sample Questions
Q1) 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
Q2) Which model attempts to explain the etiology of discontinuous multifactorial traits?
A) Random segregation model
B) Hardy-Weinberg model
C) Liability threshold model
D) Additive trait model
E) Multiplicative trait model
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Chapter 10: Hemoglobin and the Hemoglobinopathies
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Sample Questions
Q1) 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
Q2) 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
Q3) The complete absence of a globin production gives rise to which phenotype?
A) Sickle cell disease
B) Hb H disease
C) b-thalassemia
D) Hydrops fetalis
E) Normal adult hemoglobin production
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Chapter 11: Biochemical Genetics
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Sample Questions
Q1) For which of the following disorders would prenatal genetic diagnosis be particularly difficult?
A) Cystic fibrosis
B) Down syndrome
C) Lesch-Nyhan syndrome
D) MERRF
E) Tay-Sachs disease
Q2) 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
Q3) 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
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Chapter 12: Pharmacogenetics
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Sample Questions
Q1) When treated with isoniazid,people who are homozygous for an allele associated with low N-acetyltransferase activity are at risk for which of the following?
A) Inability to maintain sufficient levels of isoniazid for treatment
B) Polyneuritis
C) Inability to absorb sufficient isoniazid
D) Hemolysis
E) Sudden death
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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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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Sample Questions
Q1) In addition to mutations in the coding region and regulatory elements,oncogenes often arise by which mechanism?
A) Gene amplification
B) Loss of heterozygosity
C) Splice mutations
D) Interstitial deletions
E) Nondisjunction
Q2) Following a first mutation in a tumor suppressor gene,which of the following is commonly associated with the "second hit" in tumor generation?
A) Loss of heterozygosity
B) Fusion of two genes
C) Insertional mutagenesis
D) Gene duplication
E) Any of the above
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16
Chapter 15: Genetic Factors in Common Diseases
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Q1) The gene on chromosome 21 encoding which protein is thought to contribute to the increased risk of Alzheimer's disease in individuals with Down syndrome?
A) Presenilin 1
B) Presenilin 2
C) Amyloid precursor protein
D) Alpha-synuclein
E) Parkin
Q2) What is the major locus contributing to type 1 diabetes?
A) HNF1A
B) CARD15
C) HLA
D) TCF7L2
E) APOE
Q3) Why is population genetic screening for hemochromatosis not recommended?
A) The low frequency of carriers
B) No treatment is available
C) High allelic heterogeneity
D) Because it manifests only late it life
E) Low penetrance of the mutations
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Chapter 16: Congenital Abnormalities and Dysmorphic Syndromes
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Sample Questions
Q1) A disruption is a type of variation that is characterized by
A) Destruction or interruption of intrinsically normal tissue
B) An underlying genetic mechanism
C) An abnormal developmental process
D) High recurrence risk
E) A cluster of defects
Q2) 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
Q3) 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
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Chapter 17: Genetic Counseling
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Sample Questions
Q1) 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
Q2) 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
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Chapter 18: Chromosome Disorders
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Q1) Which of the following is true of Fragile X syndrome?
A) Affected individuals have testicular atrophy beginning at puberty
B) Accurate prenatal diagnosis of full-mutation females is available
C) Premutation carriers show no phenotypic effects
D) Expansion of premutation alleles occurs primarily during spermatogenesis
E) It is almost always associated with a trinucleotide expansion in the 5' untranslated portion of FMR1
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) Individuals with Klinefelter syndrome are usually infertile because...
A) Their testes do not descend
B) They lack sperm in their semen
C) Their sperm are nonmotile
D) They exhibit feminization of their genitalia
E) Problems with non-disjunction
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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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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 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
Q2) 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
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 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
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24
Chapter 23: Treatment of Genetic Disease
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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) Which of the following consequences was associated with use of retroviruses in gene therapy of SCID?
A) Short half-life for the vector
B) Dangerous immune response to the vector
C) Insertional mutagenesis
D) The protein product was not expressed in the appropriate location
E) Sufficient levels of the protein product were not achieved
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25
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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