Genomic Medicine
Final Exam
Course Introduction
Genomic Medicine explores the role of genomic information in understanding, diagnosing, and treating human diseases. This course covers fundamental concepts such as the structure and function of genomes, genetic variations, and the tools and techniques used for genome analysis. Students will examine how genomic data informs personalized medicine, pharmacogenomics, and risk assessment for inherited conditions. Ethical, legal, and social implications of genomic medicine will also be addressed, providing a comprehensive view of its impact on modern healthcare and the future of medical practice.
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 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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Sample Questions
Q1) Which of the following mutations would not be transmitted to the next generation?
A) Somatic mutation
B) Mosaic mutation
C) Germline mutation
D) Nonsense mutation
E) Silent mutation
Answer: A
Q2) Which of the following is an example of repetitive DNA?
A) Microsatellite
B) Minisatellite
C) Telomere
D) SINE
E) All of the above
Answer: E
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4
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) 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
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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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Sample Questions
Q1) 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
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) Proteins that contain a zinc finger motif share what function?
A) Kinase
B) Phosphatase
C) Protease
D) Transcription factor
E) Inducers of apoptosis
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
Q3) Which of the following chromosomal constitutions would be associated with a male phenotype?
A) 45,X
B) 47,XXY
C) 47,XYY
D) A and B
E) B and C
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Chapter 7: Patterns of Inheritance
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Sample Questions
Q1) 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
Q2) 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
Q3) When affected males pass a disorder to their daughters but not their sons,what is the likely pattern of inheritance?
A) Autosomal dominant
B) Autosomal recessive
C) X-linked dominant
D) X-linked recessive
E) Y-linked
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Chapter 8: Population and Mathematical Genetics
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Sample Questions
Q1) What selective agent has resulted in heterozygote advantage for thalassemia mutation carriers?
A) Influenza
B) Plague
C) Tuberculosis
D) AIDS
E) Falciparum malaria
Q2) How are the LOD scores from multiple affected families combined?
A) Added
B) Subtracted
C) Averaged
D) Multiplied
E) They cannot be combined
Q3) The incidence of cystic fibrosis in the Caucasian population is approximately 1 in 4000-what is the carrier frequency?
A) 1/16
B) 1/32
C) 1/64
D) 1/128
E) 1/1000
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Chapter 9: Polygenic and Multifactorial Inheritance
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Sample Questions
Q1) Multifactorial,quantitative traits often show which type of distribution in a population?
A) Normal
B) Uniform
C) Bernoulli
D) Random
E) Bimodal
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) 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
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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Sample Questions
Q1) 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
Q2) 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
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) 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
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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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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Sample Questions
Q1) Mismatch repair defects causing hereditary nonpolyposis colon cancer are associated with which molecular phenomenon,which can be helpful for diagnosis?
A) DNA hypomethylation
B) DNA hypermethylation
C) DNA hypercondensation
D) Microsatellite instability
E) DNA breakage
Q2) 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
Q3) Which of the following epigenetic modifications is associated with cancer?
A) DNA hypermethylation
B) DNA hypomethylation
C) Histone hypoacetylation
D) All of the above
E) None of the above
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Chapter 15: Genetic Factors in Common Diseases
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Sample Questions
Q1) 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
Q2) 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
Q3) What is the major locus contributing to type 1 diabetes?
A) HNF1A
B) CARD15
C) HLA
D) TCF7L2
E) APOE
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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 is NOT associated with teratogenic effects?
A) Folic acid consumption
B) Hyperthermia
C) Toxoplasmosis infection
D) Radiation exposure
E) Alcohol consumption
Q3) 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
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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) 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) 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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Page 20
Chapter 19: Single-Gene Disorders
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Sample Questions
Q1) In addition to the lungs,what other major organ is affected by cystic fibrosis?
A) Heart
B) Muscle
C) Brain
D) Pancreas
E) Kidney
Q2) Which of the following is a feature of the inheritance pattern of Huntington's disease?
A) It is sex-limited
B) The phenotype is not seen until after 50 years of age
C) It exhibits anticipation
D) It is passed only through females
E) All of the above
Q3) 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
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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) 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) 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
Q3) 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
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Chapter 22: Risk Calculation
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Sample Questions
Q1) A 40-year-old woman is concerned for the health of her child because her own father died of Huntington's disease.The consultand currently has no signs of Huntington's disease himself.If we assume the age-dependent penetrance of Huntington's disease is 20% at age 40,what is the prior probability that the child will have inherited the disease?
A) 1/9
B) 2/9
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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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) 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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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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