Translational Science in Nursing
Textbook Exam Questions
Course Introduction
Translational Science in Nursing explores the processes by which research findings and scientific discoveries are transformed into clinical applications to improve patient care and health outcomes. The course covers theories, models, and frameworks that underpin translational science, emphasizing the integration of evidence-based practices into healthcare settings. Students learn methods for evaluating and implementing research, strategies for overcoming barriers to translation, and approaches to collaborate across disciplines. Through case studies and current examples, the course highlights the nurses pivotal role as a leader and advocate in bridging the gap between research, practice, and policy.
Recommended Textbook
Genetics and Genomics in Nursing and Health Care 2nd Edition by Theresa A. Beery
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432 Verified Questions
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Chapter 1: DNA Structure and Function
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Q1) Which genetic process would be disrupted in one cell if it could not form chromosomes?
A)DNA replication
B)Gene-directed protein synthesis
C)Delivery of genetic information to new cells
D)Conversion of a nucleoside into a nucleotide
Answer: C
Q2) What is the term used to define alternative forms of a gene that may result in different expression of the trait coded for by that gene?
A)Alleles
B)Bases
C)Centromeres
D)Diploids
Answer: A
Q3) What is the most outstanding feature of a mature haploid cell?
A)It is usually homozygous.
B)The sex chromosomes are missing.
C)Only one chromosome of each pair is present.
D)DNA synthesis occurs after mitosis instead of before.
Answer: C
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Chapter 2: Protein Synthesis
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Q1) What is the expected result of a "nonsense" point mutation?
A)Total disruption of the gene reading frame, no production of protein
B)Replacement of one amino acid with another in the final gene product
C)Replacing an amino acid codon with a "stop" codon, resulting in a truncated protein product
D)No change in amino acid sequence and no change in the composition of the protein product
Answer: C
Q2) Which factor has the greatest influence on protein tertiary structure?
A)The presence of a poly-A tail
B)The specific amino acids that are in close proximity to each other
C)Bond formation between amino acids that are distant from each other
D)The number and position of additional proteins needed to form the complex structure
Answer: C
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Chapter 3: Genetic Influence on Cell Division, Differentiation,
and
Gametogenesis
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Q1) Which mechanism allows cell differentiation in embryonic tissue?
A)Increased expression of oncogenes
B)Decreased expression of suppressor genes
C)Selected expression of individual structural genes
D)Enhanced expression of promitotic transcription factors
Answer: C
Q2) What is the usual outcome of "crossing over" during meiosis I for both spermatogenesis and oogenesis?
A)Unequal division of DNA between two new daughter cells during nucleokinesis
B)Mixing of maternal and paternal genes within one chromosome pair
C)Unequal distribution of cytoplasmic material
D)More rapid progression to meiosis II
Answer: B
Q3) In which phases of the cell cycle is the normal cell tetraploid (4N)?
A)G<sub>1</sub> and G<sub>2</sub>
B)G<sub>1</sub> and S
C)S and G<sub>2</sub>
D)G<sub>2</sub> and M
Answer: C
Page 5
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Chapter 4: Patterns of Inheritance
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Q1) Is it possible for two parents with achondroplasia to have a child who is of normal stature?
A)Yes, because the disorder is autosomal dominant, and if both parents are heterozygous, the child could inherit two normal stature gene alleles.
B)Yes, if the parent who is homozygous for the gene mutation demonstrates variable expressivity of the health problem.
C)No, because the disorder is autosomal recessive, and the child can only inherit two mutated gene alleles for the health problem.
D)No, because homozygosity for this health problem is lethal.
Q2) An infant with type B blood is born to parents who both have type O blood. What genetic action or phenomenon is responsible for this unusual blood type expression?
A)Decreased penetrance of a dominant trait
B)Variable expressivity of a recessive trait
C)Inactivation of both parents' X chromosomes
D)Failure of one parent's blood-type gene alleles to segregate
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6
Chapter 5: Epigenetic Influences on Gene Expression
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Q1) How is eating a diet high in broccoli thought to reduce cancer risk?
A)Increasing the excretion rate of foods known to be methyl donors
B)Increasing histone acetylation, turning on anticancer genes
C)Decreasing the rate of microDNA synthesis and activity
D)Decreasing the exposure of carcinogens to nuclear DNA
Q2) What part of a chromosome's DNA is altered by histone modification?
A)Complementary base pairing
B)Attachment of phosphate groups
C)Development of telomeric "caps"
D)The degree of tension in helical tightness
Q3) By which mechanism does microRNA "silence" gene expression?
A)Preventing cytoplasm from coming into contact with the gene
B)Surrounding mRNA and preventing attachment of ribosomes
C)Binding to mRNA and keeping it double stranded
D)Substituting a thymine for uracil
Q4) Which statement about the microbiome is true?
A)The microbiome does not undergo further changes after development is complete.
B)With aging, its influence on health is reduced.
C)The microbiome is necessary for good health.
D)Identical twins have identical microbiomes.
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Chapter 6: Autosomal Inheritance and Disorders
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Q1) What is the best explanation for a person whose karyotype from blood cells shows nearly all cells to have trisomy 21 to have 10 clinical manifestations of Downsyndromeand an above-average intelligence?
A)The trisomy was a result of nondisjunction of paternal gametes instead of maternal gametes.
B)The person has pseudo-Down syndrome, in which environmental conditions caused the person to have development that mimics only the physical manifestations.
C)The person has genomic imprinting, in which the paternal number 21 chromosome is not expressed, and both maternally derived number 21 chromosomes are expressed.
D)The person has mosaicism of trisomy 21, with blood cells having a high proportion and neurons having a low proportion of cells, with three number 21 chromosomes.
Q2) Which cancer type has an increased incidence among children with WAGR syndrome?
A)Acute leukemia
B)Brain tumors
C)Colorectal cancer
D)Nephroblastoma
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Chapter 7: Sex Chromosome and Mitochondrial Inheritance and Disorders
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Q1) What is the function of the FMR1 gene?
A)Promoting brain development and maintaining neuronal synapses
B)Ensuring the expression of all other genes present on the X chromosome
C)Preventing amyloid plaque deposits and formation of neuronal tangles in the brain
D)Maintaining the structural integrity of the histone proteins surrounding the X chromosome
Q2) Which of the following definitions accurately represents the concept of expansion?
A)The phenotype of a genetic condition is expressed with greater severity and at earlier ages with succeeding generations.
B)The number of trinucleotide repeat sequences within the noncoding region of a specific gene allele is increased.
C)The number of copies of a specific gene allele is amplified on one chromosome of a homologous pair.
D)A specific gene allele has at least two copies of every exon within the gene.
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Chapter 8: Family History and Pedigree Construction
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Q1) Which activity would a general registered nurse be expected to perform as part of genomic care?
A)Calculating recurrence risk for parents who have just had a child with nondisjunction Down syndrome
B)Informing a patient that his test results are positive for a genetic disorder
C)Obtaining an accurate family history and physical assessment data
D)Requesting a consultation visit from a clinical geneticist
Q2) What is the risk for disease expression among the offspring of a woman who has an autosomal-recessive disorder when her partner is a carrier for the same disorder?
A)All sons will be unaffected; all daughters will be carriers.
B)All children have a 50% risk for being affected and a 50% risk for being a carrier.
C)Daughters have a 50% risk for being affected; all sons will either be affected or carriers.
D)Each child of either gender has a 50% risk of being a carrier, a 25% risk of having the disease, and a 25% risk of neither being a carrier nor having the disease.
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Chapter 9: Congenital Anomalies, Basic Dysmorphology, and
Genetic Assessment
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Q1) Which condition in a newborn should be described as a deformation if it is the only abnormal finding?
A)A unilateral clubfoot
B)A sealed (imperforate) anus
C)The absence of a thyroid gland
D)The presence of six toes on each foot
Q2) Which ear location is considered "low set"?
A)The earlobes are aligned with the highest point of the upper lip.
B)The earlobes are aligned with the highest point of the bottom lip.
C)The roots of the ears are aligned with the outer canthus of the eyes.
D)The roots of the ears are aligned an inch below the outer canthus of the eyes.
Q3) Naomi and her sister have the same allele for the gene of interest; however, Naomi has cleft lip, whereas her sister has only lip pits. What genetic process explains this difference?
A)Genomic imprinting
B)Decreased penetrance
C)Genetic heterogeneity
D)Variable expressivity
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Chapter 10: Enzyme and Collagen Disorders
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Q1) A son with osteogenesis imperfecta is born to parents with no family history of the disease. What is the most likely explanation for the son's disorder?
A)The son is not biologically related to the mother.
B)The son is not biologically related to the father.
C)The gamete of one parent had a spontaneous mutation.
D)The son's DNA underwent a spontaneous mutation during the second trimester of pregnancy.
Q2) Which ethnic group has the highest incidence of Gaucher disease?
A)Ashkenazi Jews
B)Asian Americans
C)American Indians
D)Individuals of Mediterranean descent
Q3) What is the pathologic basis of Fabry disease?
A)Increased degradation of globotriaosylceramide
B)Increased accumulation of globotriaosylceramide
C)Deficiency in the number of liver lysosomes
D)Excessive number of liver lysosomes
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Chapter 11: Common Childhood-Onset Genetic Disorders
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Q1) A son with achondroplasia is born to parents with no family history of the disease. What is the most likely explanation for the son's disorder?
A)The son is not biologically related to the mother.
B)The son is not biologically related to the father.
C)The gamete of one parent had a spontaneous mutation.
D)The son's DNA underwent a spontaneous mutation during the second trimester of pregnancy.
Q2) Which factor has the greatest genetic influence in the development of type 1 diabetes mellitus?
A)Inheritance of the HLA-DR or HLA-DQ tissue types
B)Sedentary lifestyle coupled with childhood obesity
C)Mutation in the gene for pancreas development
D)Advanced maternal age at conception
Q3) Which problem or symptom is associated with type 1 diabetes but not with type 2 diabetes?
A)Insulitis
B)Polydipsia
C)Weight gain
D)Hyperglycemia
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Page 13
Chapter 12: Common Adult-Onset Disorders
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Q1) Why are complex or multifactorial disorders more commonly expressed among adults than among children?
A)As adults age, there is more time for environmental factors to influence the expression of a genetic disorder.
B)Gene expression in adults is greater than in childhood as a result of age-related amplification of gene copy numbers.
C)Children have better DNA repair mechanisms than adults and are more likely to correct a predisposition for a complex disorder.
D)In order for a complex or multifactorial disorder to be expressed in childhood, the child must be homozygous for the genetic mutation.
Q2) What can be interpreted about type 2 diabetes mellitus in monozygotic twins when it affects only one twin 70% of the time and affects both twins 30% of the time?
A)The trait is recessive.
B)Mutation repair is incompletely penetrant.
C)Nongenetic factors can influence expression.
D)Homologous genes can undergo chromatid exchanges.
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Chapter 13: Cardiovascular Disorders
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Q1) The process in which gene variants interact with other gene variants to cause disease can be described by what word/phrase?
A)Phenotype variation
B)Reduced penetrance
C)Epistasis
D)Variable expressivity
Q2) Which ethnic group is at higher risk for stroke caused by factor V Leiden?
A)Ashkenazi Jews
B)African Americans
C)Caucasians from Northern Europe
D)French Canadians from the Quebec area
Q3) What is the genetic contribution to the development of the most common forms of atherosclerosis?
A)Variation in a variety of genes, with each exerting a small effect
B)Disordered mitochondrial function reducing energy production
C)Genetic predisposition expressed after exposure to a viral trigger
D)Single-gene mutation following autosomal-dominant inheritance
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15
Chapter 14: The Genetics of Cancer
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Q1) Which statement regarding general cancer development is true?
A)The risk for cancer development increases with age.
B)Cancers usually develop in tissues that are missing a nucleus.
C)Children of older mothers have a greater risk for cancer development.
D)Most mutations leading to cancer development occur in structural genes.
Q2) How does an MSH<sub>2 </sub>gene mutation contribute to the development of colon cancer?
A)Suppressor gene function is enhanced.
B)DNA mutations are incorrectly repaired.
C)Trinucleotide repeat sequences are enhanced.
D)Drug resistance genes undergo amplification.
Q3) Mutations in which of the following genes are now known to greatly increase the risk for developing breast cancer? Select all that apply.
A)APC
B)CDH1
C)CHEK2
D)DCC
E) PALB2
F) PTEN
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Page 16
Chapter 15: Genetic Contributions to Psychiatric and Behavioral Disorders
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Q1) Which assessment finding in a 3-year-old child increases the suspicion for a possible diagnosis of autism spectrum disorder?
A)Language skills are delayed.
B)The child is very near-sighted.
C)Height is below the 5th percentile.
D)The child does not sit still during the assessment interview.
Q2) Which statement about attention deficit hyperactivity disorder (ADHD) is true?
A)The problem is more common among girls whose fathers also had the disorder.
B)By the time a person with ADHD reaches adulthood, all symptoms have resolved.
C)It is a complex disorder caused by gene variants along with environmental contributions.
D)Symptoms of the disorder are ameliorated when the person sleeps more soundly as a result of pharmacologic intervention.
Q3) At what point in human development is the phenotype of schizophrenia most likely to manifest?
A)Between birth and 10 years
B)At the onset of puberty
C)At adolescence or early adulthood
D)With the onset of the physical decline associated with older age
Page 17
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Chapter 16: Genetic and Genomic Testing
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Q1) Which type of genetic testing is the most sensitive method for detecting any mutation in a specific gene?
A)Immunohistochemistry
B)Direct DNA sequencing
C)Banded chromosomal analysis
D)Fluorescence in situ hybridization
Q2) Which type of genetic testing examines a person's chromosomes for variations in number or structure?
A)Cytogenetic testing
B)Preimplantation testing
C)Predictive testing
D)Electropherogram testing
Q3) Genetic testing that examines an asymptomatic person's DNA sequence, looking for mutations that increase a person's susceptibility to a disease, is an exampleof whichtype of testing?
A)Diagnostic testing
B)Predispositional testing
C)Presymptomatic testing
D)Cytogenetic testing
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Chapter 17: Assessing Genomic Variation in Drug Response
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Q1) A patient has a very high concentration of insulin receptors on cells that require insulin for glucose to enter. How should insulin dosages be adjusted for this patient to have blood glucose levels within the normal range?
A)Insulin dosages should be given less frequently because the drug will remain bound to receptors longer.
B)Insulin dosages should be decreased because the drug will exert its actions at lower concentrations.
C)Insulin dosages should be given more frequently because the drug will be eliminated at a faster rate.
D)Insulin dosages should be increased because cells will be less sensitive to the presence of active insulin.
Q2) What is the most likely outcome for a patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency when he or she takes aspirin or an antimalarial drug?
A)Rapid elimination of the drug with no benefit
B)Liver damage or failure
C)Hemolytic anemia
D)Fluid retention
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Chapter 18: Health Professionals and Genomic Care
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Q1) Why do genetic counseling programs include extensive courses on laboratory methods in genetics?
A)So that the certified genetics counselor can serve as a backup genetics technician in small laboratories
B)So that the certified genetics counselor can perform standard karyotyping on routine blood specimens
C)So that the certified genetics counselor can help patients understand testing procedures and results
D)So that the certified genetics counselor is able to draw blood proficiently and safely
Q2) The patient who has been found to have a mutation in a gene allele that greatly increases her risk for a serious health problem has asked a generalist nurse tobe present when she discloses this information to her family. What is the nurse's role in this situation?
A)Primary health-care provider
B)Genetic counselor
C)Patient advocate
D)Patient support
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Chapter 19: Financial, Ethical, Legal, and Social Considerations
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Q1) You are caring for a college professor who has been offered testing for her family's mutation in BRCA1. She expresses fear of genetic discrimination as a reason forrefusing genetic testing. What do you tell her?
A)"There is no need to be concerned about genetic discrimination."
B)"I appreciate your concern, but there is no way your insurance company or employer will ever be able to get your genetic testing results."
C)"There is now federal legislation banning genetic discrimination, and in addition, we will do everything we can to keep your results confidential."
D)"There have been no instances of documented genetic discrimination in insurance or employment. This concern is overblown."
Q2) Sometimes health-care providers with information about family members' genetic risk are confronted by conflicting ethical principles. Which principle is leastlikelytoconflict with the health-care provider's "duty to warn"?
A)Autonomy
B)Beneficence
C)Right to privacy
D)Genetic discrimination
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Page 21
Chapter 20: Genetic and Genomic Variation
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Q1) What is the main purpose of population genetics?
A)Determining the factors that allow allelic frequencies to change over time
B)Determining the geographic origins of specific genetic-based disorders
C)Assessing the effects of assortive mating on natural selection and evolution
D)Assessing the differences between race and ethnicity for susceptibility and resistance to infectious diseases
Q2) Agroup of eight space travelers, four men and four women, settled on the planet Zebulon. Their descendants had a very high rate of the autosomal-dominant disorder moonophilia distractens. What factor could explain this phenomenon?
A)Equal exposure to an environmental mutagen
B)Hardy-Weinberg equilibrium
C)Variable expressivity
D)Founder effect
Q3) What factors could increase genetic diversity in a particular population?
A)Genetic drift
B)The population effect
C)The bottleneck effect
D)Increased number of haplotypes
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