Biology of Disease
Midterm Exam
Course Introduction
Biology of Disease explores the molecular, cellular, and physiological mechanisms underlying human diseases. The course examines how normal biological processes are disrupted by genetic mutations, infections, environmental factors, and lifestyle choices, leading to various diseases ranging from genetic disorders to cancer and infectious diseases. Students will gain an understanding of pathogen-host interactions, immune responses, and the principles of disease prevention, diagnosis, and treatment. Emphasis is placed on integrating foundational knowledge of biochemistry, cell biology, and physiology to analyze case studies and contemporary research in disease biology.
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 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 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
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 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
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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Page 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) 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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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 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 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) 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
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8
Chapter 7: Patterns of Inheritance
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Q1) 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
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 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) 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
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) Which of the following can disturb Hardy-Weinberg equilibrium?
A) Assortative mating
B) Natural selection
C) Population bottleneck
D) A small population size
E) All of the above
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Page 10
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) 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) 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 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
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12
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) Reduced melanin production in individuals with phenylketonuria is a result of deficiency for which of the following?
A) Phenylalanine
B) Tyrosine
C) Thyroxine
D) Acetoacetic acid
E) Ketones
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) 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) 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) 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
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) 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
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Chapter 15: Genetic Factors in Common Diseases
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Q1) 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
Q2) 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) 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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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) 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
Q3) 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
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Page 20
Chapter 19: Single-Gene Disorders
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Q1) Although anticipation has now been demonstrated for myotonic dystrophy,it was once argued that the appearance of increased severity in successive generations might have been due to which of the following?
A) Sex limitation of the phenotype
B) Ascertainment bias
C) Increased anxiety in the family
D) A negative effect of therapies
Q2) Which of the following mutations is associated with the myotonic dystrophy phenotype?
A) A CCTG expansion 3' of ZNF9
B) A deletion in DMPK
C) A trinucleotide repeat expansion 3' of DMPK
D) A and C
E) B and C
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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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) 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) 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
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Chapter 22: Risk Calculation
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Q1) 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
Q2) 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
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24
Chapter 23: Treatment of Genetic Disease
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Q1) 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
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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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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