Genetics in Nursing Practice
Exam Questions
Course Introduction
This course explores the foundational principles of genetics and their application within the nursing profession. Students will examine how genetic information influences health, disease prevention, diagnosis, and treatment across the lifespan. Emphasis is placed on integrating genetics into patient assessments, family history documentation, risk assessment, and ethical considerations in genetic counseling. Practical scenarios will help students develop the skills needed to interpret genetic information, support patient decision-making, and collaborate with multidisciplinary healthcare teams, preparing them to deliver competent, evidence-based care in the era of personalized medicine.
Recommended Textbook
Genetics and Genomics in Nursing and Health Care 2nd Edition by Theresa A. Beery
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20 Chapters
432 Verified Questions
432 Flashcards
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Page 2
Chapter 1: DNA Structure and Function
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25 Verified Questions
25 Flashcards
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Sample Questions
Q1) At what phase of the cell cycle are chromosomes visible as separate structures?
A)G<sub>1</sub>
B)G<sub>2</sub>
C)S
D)M
Answer: D
Q2) How does the proteome differ from the genome?
A)The proteome changes in response to intracellular and extracellular signals.
B)The genome changes in response to intracellular and extracellular signals.
C)The proteome is stable in somatic cells and unstable in germ cells, whereas the genome is stable in both somatic cells and germ cells.
D)The genome is stable in somatic cells and unstable in germ cells, whereas the proteome is stable in both somatic cells and germ cells.
Answer: A
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Chapter 2: Protein Synthesis
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31 Verified Questions
31 Flashcards
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Sample Questions
Q1) The protein glucagon contains 29 amino acids in its active linear form. What is the minimum number of bases present in the mature messenger RNA for this protein?
A)29
B)58
C)87
D)116
Answer: C
Q2) Which DNA segment deletion would cause a frameshift mutation?
A)TCT
B)GAGTC
C)TACTAC
D)GCATGACCC
Answer: B
Q3) Which process occurs outside of the nucleus?
A)DNA transcription
B)RNA transcription
C)Splicing out of introns
D)Translation of mRNA
Answer: D
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Page 4
Chapter 3: Genetic Influence on Cell Division, Differentiation,
and Gametogenesis
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32 Verified Questions
32 Flashcards
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Sample Questions
Q1) Which event characterizes embryonic commitment?
A)Meiotic cell division
B)Selective loss of genes
C)Increased suppressor gene activity
D)Progressive increase in nuclear size
Answer: C
Q2) What is the expected result when two homologous chromosomes fail to separate during meiosis I of spermatogenesis?
A)Fertilization of this gamete may result in a zygote that is 48, XXYY.
B)One gamete will have two of these chromosomes, and one will have neither of these chromosomes.
C)The risk for development of polygenic disorders is increased with fertilization of the polar body associated with this mature gamete.
D)Increased genetic diversity is possible with fertilization of any of these four gametes because of an increased number of possible gene alleles.
Answer: B
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5
Chapter 4: Patterns of Inheritance
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36 Verified Questions
36 Flashcards
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Sample Questions
Q1) Why are dizygotic twins less likely to show concordance for a monogenic trait than monozygotic twins?
A)Dizygotic twins share fewer allele sequences in common than monozygotic twins.
B)It is possible for dizygotic twins to have different fathers, and monozygotic twins always have the same father.
C)Gene expression in monozygotic twins is less influenced by environmental factors than that of dizygotic twins.
D)Because of their identical appearance, monozygotic twins are more likely to be raised together and share a common environment than are dizygotic twins.
Q2) On a five-generation pedigree, which feature distinguishes an X-linked-dominant disorder in which males and females are equally affected from an autosomal-recessivepattern of inheritance?
A)The disorder is not apparent until adulthood.
B)Unaffected individuals do not have affected children.
C)There are no instances of an affected father transmitting the disorder to his son.
D)Unaffected parents (who do not express the disorder) do have affected children.
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Chapter 5: Epigenetic Influences on Gene Expression
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Sample Questions
Q1) Which term or phrase is used to describe the ability of the environment to cause different phenotypes to develop from the same genotype?
A)Developmental plasticity
B)Histone modification
C)Phenotype variability
D)Nutrigenomics
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) 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
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Chapter 6: Autosomal Inheritance and Disorders
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20 Verified Questions
20 Flashcards
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Sample Questions
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 feature of a 15q deletion is present in both Angelman syndrome and Prader-Willi syndrome?
A)Light skin, eye, and hair coloring
B)Continuous smiling and jerky gait
C)Excessive appetite and weight gain
D)Progressive tremors and seizure activity
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Page 8
Chapter 7: Sex Chromosome and Mitochondrial Inheritance and Disorders
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20 Verified Questions
20 Flashcards
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Sample Questions
Q1) 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.
Q2) Which clinical feature in a newborn baby girl suggests the possibility of Turner syndrome?
A)Absence of Babinski reflex
B)Presence of a webbed neck
C)Presence of epicanthal folds
D)Absence of irises of both eyes
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Chapter 8: Family History and Pedigree Construction
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20 Flashcards
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Sample Questions
Q1) 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.
Q2) How are twins indicated on a pedigree?
A)The two gender symbols are placed on top of each other.
B)Each of the gender symbols is surrounded by an inward-facing set of brackets.
C)The vertical lines to each twin begin at the same point on the parents' horizontal mating line.
D)The one born first has a vertical line connected to the parents' horizontal mating line; the twin born second has a vertical line extending down from the first twin's gender symbol.
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Chapter 9: Congenital Anomalies, Basic Dysmorphology, and
Genetic Assessment
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Sample Questions
Q1) Why should a tall teenager with Marfan syndrome avoid joining the high school basketball team?
A)The excessively long limbs have reduced bone density, increasing the risk for fractures.
B)The disorder is associated with weakened blood vessel walls that could rupture during strenuous activity.
C)The disorder is associated with glycogen storage deficiency, and the individual could become seriously hypoglycemic during strenuous activity.
D)Although people with Marfan syndrome are tall, they also have poor balance that impairs gross motor coordination, increasing the risk for injury.
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.
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11
Chapter 10: Enzyme and Collagen Disorders
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30 Verified Questions
30 Flashcards
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Sample Questions
Q1) Which ethnic group has the highest incidence of a mutation in the PAH gene?
A)Ashkenazi Jews
B)French Canadians from the Quebec area
C)Celts from Ireland and Scotland
D)Africans from equatorial areas
Q2) Why is it important to diagnose Gaucher type 1 disease as soon as possible after birth?
A)Enzyme therapy can reduce complications for some patients.
B)When proper dietary management is instituted early, complications can be prevented.
C)Insulin therapy can result in prevention of the development of type 2 diabetes mellitus.
D)Prophylactic therapy with antibiotics can prevent early death from pneumonia and other infections.
Q3) Which dietary alterations are necessary to help reduce the complications of phenylketonuria (PKU)?
A)Increased intake of phenylalanine; decreased intake of tyrosine
B)Increased intake of phenylalanine; increased intake of tyrosine
C)Decreased intake of phenylalanine; decreased intake of tyrosine
D)Decreased intake of phenylalanine; increased intake of tyrosine
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Page 12
Chapter 11: Common Childhood-Onset Genetic Disorders
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34 Verified Questions
34 Flashcards
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Sample Questions
Q1) Which ethnic group has the highest incidence of sickle cell disease (SCD)?
A)Ashkenazi Jews
B)Asian Americans
C)African Americans
D)French Canadians from Quebec
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 phenotypic feature associated with achondroplasia has variable expression?
A)Disproportionally short extremities
B)Larger-than-average head size
C)Prominent forehead
D)Hydrocephaly
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13
Chapter 12: Common Adult-Onset Disorders
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25 Flashcards
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Sample Questions
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) Why are women usually older than men before symptoms of hereditary hemochromatosis manifest?
A)Women have a counterbalancing normal gene on their second X chromosome.
B)Women lose some iron with normal menstruation during childbearing years.
C)Men have a larger muscle mass and more iron-storing capability than women.
D)Men have greater expression of the gene for hemoglobin than do women.
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Chapter 13: Cardiovascular Disorders
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23 Verified Questions
23 Flashcards
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Sample Questions
Q1) Your 40-year-old patient is hospitalized for a myocardial infarction, but her lipid levels are normal. She says that she would like to have a genetic test to see whyshe was affected at such a young age. What do you say?
A)"Heart attacks seem to be caused by a combination of many affected genes working together as well as environmental factors. There is no single gene test that will be able to identify why this happened to you."
B)"Let's talk with your nurse practitioner about scheduling a test for familial hypercholesterolemia."
C)"You really shouldn't be concerned about your genetic risk. Because you are female, it is very low."
D)"It was just bad luck combined with the fact that you were once a smoker."
Q2) 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
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Page 15
Chapter 14: The Genetics of Cancer
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30 Verified Questions
30 Flashcards
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Sample Questions
Q1) What percentage of common cancers appears to be hereditary?
A)1% to 3%
B)5% to 15%
C)20% to 25%
D)About 35%
Q2) Which statement about a "germline" mutation in either a cancer suppressor gene or an oncogene is accurate?
A)Cancer risk is increased only in sex hormone-sensitive tissues.
B)The gene now has expressive potential but not penetrant potential.
C)Cancer risk increases, but additional mutations are required for cancer development.
D)A person inheriting such a mutation has a 100% risk for developing a specific cancer type.
Q3) Why are people who have poor DNA repair mechanisms at greater risk for cancer development?
A)Their cancers are usually resistant to chemotherapy.
B)They have sustained the initial "hit" in all cells and tissues.
C)Their somatic mutations are more likely to be permanent.
D)They have greater exposure to environmental carcinogens.
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Chapter 15: Genetic Contributions to Psychiatric and Behavioral Disorders
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15 Verified Questions
15 Flashcards
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Sample Questions
Q1) What is meant by the phrase "behavioral genetics"?
A)Identification of the single gene that corresponds to a specific undesired behavior
B)An area of research aimed at controlling behavior by genetic manipulation
C)The study of the behavior of genes in diverse settings
D)The examination of gene variants that influence behaviors
Q2) 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
Q3) Which condition provides the greatest support for a strong genetic contribution to autism spectrum disorders (ASDs)?
A)Concordance among dizygotic twins is 10%.
B)Males are affected four times more frequently than females.
C)People with some neurologic disorders also have features of ASDs.
D)ASDs are more likely to occur in children of parents who are over 35 at the time of conception.
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Chapter 16: Genetic and Genomic Testing
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Sample Questions
Q1) Which genetic-based disorders can be initially identified by the most common types of newborn blood screening? Select all that apply.
A)Congenital hypothyroidism
B)Cystic fibrosis
C)Galactosemia
D)Hereditary hemochromatosis
E)Phenylketonuria
F)Sickle cell disease
Q2) 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
Q3) When is fluorescence in situ hybridization (FISH) most likely to be used?
A)To find a gene associated with a particular disease
B)To determine whether a stillborn infant has trisomy 13
C)To determine the carrier status of a child whose sister has cystic fibrosis
D)To establish a diagnosis for a possible adult-onset single-gene disorder
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Page 18
Chapter 17: Assessing Genomic Variation in Drug Response
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Sample Questions
Q1) Which processes of drug response are most subject to genetic variation?
A)Drug dissolution in body fluids and drug binding to plasma proteins
B)Rates of drug movement into and through the gastrointestinal tract
C)Drug activation or deactivation and duration of drug actions
D)Drug binding with receptors and drug blocking of receptors
Q2) How do genetic/genomic issues influence individual variation in the response to a specific drug?
A)Polymorphisms of genes encoding metabolizing enzymes
B)Age-related loss of alleles within the cells lining the intestinal tract
C)Single-gene disorders that reduce the function of the kidneys or the liver
D)Genetic-based behavior problems that promote poor adherence to prescribed drug regimens
Q3) Which condition or factor improves the initial bioavailability of a drug agonist that has extensive first-pass loss as a result of the patient's enhanced liver enzymeactivity?
A)Increasing the patient's fluid intake
B)Co-administering the drug with an antagonist
C)Administering the drug by the intravenous route
D)Crushing the oral form of the drug before administration
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Chapter 18: Health Professionals and Genomic Care
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Sample Questions
Q1) How do genetics counselors provide genetic/genomic information to patients and families in a nondirective manner?
A)Providing only the information the patient or family specifically requests
B)Skillfully directing the patient and family toward the best choice that is supported by appropriate research
C)Presenting all facts and available options in a manner that neither promotes nor excludes any legally permitted decision or action
D)Filtering management options and focusing on the information that will support the decision they believe is right for the individual patient/family
Q2) Which statement or criterion is a required component for certification as an Advanced-Practice Nurse in Genetics (APNG)?
A)A 2-year residency in clinical genetics
B)An earned PhD or DNP with coursework focusing on genetics
C)Completion of 500 hours of direct bedside care for patients with genetic disorders
D)Completion of a 50-case log describing the nurse's actions that reflect the standards of clinical genetic nursing practice
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Sample Questions
Q1) Under which condition(s) would genetic testing for predisposition to an inherited disorder in a minor child be considered reasonable?
A)When the family pedigree indicates an autosomal-dominant pattern of inheritance
B)When the risk is high and prophylaxis to reduce the severity of the disorder is available
C)When penetrance is high and the expected onset is middle adulthood
D)When the mutation within a family is known and is specific
Q2) Preimplantation genetic diagnosis provides parents with which options?
A)The ability to screen normally fertilized embryos for genetic traits after the first trimester
B)The ability to select embryos for implantation that test negative for a familial disease mutation
C)The opportunity to determine how many children they will conceive
D)The ability to guarantee that they will have a healthy baby
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Chapter 20: Genetic and Genomic Variation
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Sample Questions
Q1) Which term refers to a random change in allele frequencies, not based on natural selection?
A)Population bottleneck
B)Genetic drift
C)Founder effect
D)Migration effect
Q2) Which statement regarding genetic diversity is most accurate?
A)Larger genes are more likely to display diversity than small genes.
B)Genetic diversity is significant only when a population is isolated.
C)Genetic disorders are more common in populations that have greater genetic diversity.
D)Population bottlenecks result in loss of alleles that provide minimal selection advantage.
Q3) Why are people of Ashkenazi Jewish descent more likely to be carriers of the mutations that cause Tay-Sachs and Gaucher disease?
A)The environment of Eastern Europe increased their risk of developing a mutation.
B)The common diet shared by these people has reduced their genetic diversity.
C)Bottleneck effects have reduced the genetic diversity in this population.
D)Being heterozygous for these diseases allowed them to survive cholera.
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Page 22