Pathophysiology Review Questions
Course Introduction
Pathophysiology is the study of the physiological processes and mechanisms that lead to disease or abnormal bodily function. This course explores the alterations in normal anatomy and physiology that occur as a result of disease processes, providing a foundational understanding of how diseases manifest, progress, and impact the human body. Topics include cellular injury, inflammation, immune responses, genetic disorders, and specific pathophysiological changes associated with major organ systems such as the cardiovascular, respiratory, renal, gastrointestinal, and nervous systems. Emphasis is placed on the connection between clinical symptoms, laboratory findings, and underlying pathophysiological processes, equipping students with the critical thinking skills required to interpret and analyze disease presentations in clinical 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 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
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 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
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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 form of chromosomal DNA stains darkly and is largely composed of unexpressed,repetitive DNA?
A) Euchromatin
B) 5' UTRs
C) Heterochromatin
D) Nucleosomes
E) Introns
Answer: C
Q2) Due to differences in male and female meiosis,advanced paternal age effect is more likely to be associated with what type of mutation?
A) Chromosome abnormalities
B) Translocations
C) De novo dominant mutations
D) Aneuploidies
E) Fragile sites
Answer: C
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Chapter 4: Dna Technology and Applications
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Sample Questions
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) 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
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) 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) 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) 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
Q2) Which phenotype is associated with the same chromosome 15 region as Prader-Willi syndrome?
A) Beckwith-Wiedemann syndrome
B) Russell-Silver syndrome
C) Angelman syndrome
D) Tuberous sclerosis
E) Turner syndrome
Q3) 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
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Chapter 8: Population and Mathematical Genetics
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Sample Questions
Q1) In a linkage analysis,given that you do not know the distance between a marker and the disease locus,the calculation is reiterated for many values of .How,then,is one LOD score selected from these data?
A) The lowest is chosen
B) The highest is chosen
C) The associated with the lowest LOD is chosen
D) The associated with the highest LOD is chosen
E) You must take into account information from surrounding markers
Q2) 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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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) 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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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) 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) 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) 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) Deficiency for what enzyme is the most common cause of female genital virilization?
A) 11b-hydroxylase
B) Desmolase
C) 3b-hydroxysteroid dehydrogenase
D) 5a-reductase
E) 21-hydroxylase
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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Page 13
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) For which of the following tissues is homograft rejection not an issue?
A) Bone marrow
B) Liver
C) Kidney
D) Heart
E) Cornea
Q3) Deficiency for which of the following causes severe combined immunodeficiency syndrome?
A) Rhesus factor
B) Adenosine deaminase
C) WAS
D) CD69
E) CYP21
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Chapter 14: Cancer Genetics
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Sample Questions
Q1) 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
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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Page 16
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) The Factor V Leiden mutation is associated with:
A)Reduced cleavage of Factor V by Protein C
B) A low carrier frequency
C) Decreased clotting
D) Resolution of phenotype during puberty
E) Delayed presentation due to fetal hemoglobin expression
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) 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) 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
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 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
Q2) Which of the following is a major risk factor for Down syndrome?
A) Folic acid exposure
B) Hyperthermia during the first trimester
C) Toxoplasmosis infection during pregnancy
D) Advanced maternal age
E) Any of the above
Q3) 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
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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 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
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) 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) 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 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) 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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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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