Nursing Research in Genetics
Exam Answer Key
Course Introduction
Nursing Research in Genetics explores the foundational principles and methodologies used in studying genetic influences on health and disease within the context of nursing practice. This course examines the impact of genetic information on patient care, addresses ethical and legal considerations in genetic research, and highlights the role of nurses in incorporating genomic knowledge into evidence-based practice. Students will critically analyze current research in genetics, learn to interpret genetic data, and evaluate the implications of genetic discoveries for patient education, screening, and disease prevention strategies. The course prepares students to participate effectively in interdisciplinary research teams and enhances their competencies in advancing personalized care through genetic research.
Recommended Textbook
Genetics and Genomics in Nursing and Health Care 1st Edition by Theresa A. Beery
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18 Chapters
307 Verified Questions
307 Flashcards
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Chapter 1: DNA Structure and Function
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Sample Questions
Q1) What is the result of DNA replication?
A)Formation of two new daughter cells
B)Formation of two identical sets of DNA
C)Disappearance of the original parent cell
D)Activation and attachment of spindle fibers
Answer: B
Q2) What is the term used to describe the organized picture of the paired chromosomes within a cell used to determine whether chromosome numbers,structures,and banding patterns are normal?
A)Pedigree
B)Phenotype
C)Karyotype
D)Autosome
Answer: C
Q3) Which statement about G<sub>0</sub> is true?
A)Hyperplastic growth in place of hypertrophic growth
B)Performance of specific differentiated functions
C)Initiation and completion of nucleokinesis
D)Replication of DNA
Answer: B
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Chapter 2: Protein Synthesis
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Sample Questions
Q1) How does an "anticodon" participate in protein synthesis?
A)Splicing out the introns to form a functional and mature messenger RNA
B)Identifying which DNA strand is the "sense" strand to transcribe into RNA
C)Ensuring the appropriate tRNA places the correct amino acid into the protein
D)Interpreting the correct "stop" triplet or codon that signals for translation termination
Answer: C
Q2) What is the expected outcome when a person (twin A)experiences a large deletion of DNA in one of his noncoding region and his monozygotic twin (twin B)does not?
A)DNA identification of each twin will be more specific.
B)Only their somatic cells will remain identical at all loci.
C)Only their germline cells will remain identical at all loci.
D)They will now be dizygotic twins instead of monozygotic twins.
Answer: A
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Chapter 3: Genetic Influences on Cell Growth, cell
Differentiation, and Gametogenesis
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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) Which event occurs during mitosis?
A)Homologous chromosomes synapse and then cross over
B)The number of chromosomes decreases from diploid to haploid
C)Daughter cells are produced that are genetically identical to the parent cell
D)DNA density decreases and the 46 separate pieces assemble into one linear strand
Answer: C
Q3) What is the function of a suppressor gene product?
A)To ensure cell division occurs only when it is needed
B)To suppress the loss of differentiated functions with aging
C)To ensure the precise delivery of chromosomes to each new daughter cell
D)To prevent formation of a large nuclear-to-cytoplasmic ratio during the G<sub>0</sub> state
Answer: A
Page 5
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Chapter 4: Patterns of Inheritance
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Sample Questions
Q1) What is the expected expression of a monogenic trait that has its locus on the Y chromosome?
A)Females never inherit the trait.
B)Females inheriting the trait will be carriers.
C)Males inherit the trait in a dominant pattern of expression;females inherit the trait in a recessive pattern of expression.
D)Females inherit the trait in a dominant pattern of expression;males inherit the trait in a recessive pattern of expression.
Q2) In which situation are phenotype and genotype always the same?
A)X-linked recessive traits
B)X-linked dominant traits
C)Autosomal recessive traits
D)Autosomal dominant traits
Q3) Which person is an obligate carrier of an autosomal recessive single gene trait or disorder without expressing the trait or disorder?
A)The son of a man with classic hemophilia
B)The daughter of a woman with Marfan syndrome
C)The son of a man who expresses a widow's peak hairline
D)The daughter of a woman who expresses attached earlobes
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Page 6
Chapter 5: Chromosomal and Mitochondrial Inheritance and Disorders
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Sample Questions
Q1) 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
Q2) What is the best explanation of a child having the physical phenotype of Down syndrome but having a totally normal karyotype on chromosomal analysis of blood?
A)Mosaicism of trisomy 21 in various tissues
B)Inaccurate technique for chromosomal analysis
C)Uniparental disomy for somatic cells but not for germ cells
D)Selective chromosome loss during meiosis II of gametogenesis
Q3) What is the risk for a woman who had a retinoblastoma in early childhood as a result of a partial deletion on one number 13 chromosome to have a child who also develops the disorder?
A)100%
B)50%
C)25%
D)0%
Page 7
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Chapter 6: Family History and Pedigree Construction
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Sample Questions
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) 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 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.
Q3) Why is a pedigree considered an "unstable" product?
A)The person collecting the information may not be a genetics professional.
B)Some family members may have lied about their reproductive history.
C)The memories of older family members may be inaccurate.
D)The health of living family members continues to evolve.
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Chapter 7: Congenital Anomalies, basic Dysmorphology, and
Genetic Assessment
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Sample Questions
Q1) How is a sequence different from a syndrome?
A)A sequence is usually caused by a single gene mutation,and a syndrome is always caused by a chromosomal abnormality.
B)A syndrome is usually caused by a single gene mutation,and a sequence is always caused by a chromosomal abnormality.
C)In a syndrome one structural problem leads to development of other problems,whereas a sequence is a collection of separate but consistent anomalies.
D)In a sequence one structural problem leads to development of other problems,whereas a syndrome is a collection of separate but consistent anomalies.
Q2) What term is used to describe the condition of a child who has several dysmorphic features that are related to a single known genetic cause?
A)Sequence
B)Disruption
C)Syndrome
D)Malformation
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9
Chapter 8: Enzyme and Collagen Disorders
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Sample Questions
Q1) What is the expected outcome of pregnancy for women with phenylketonuria when the blood levels of phenylalanine are high throughout the pregnancy?
A)Most births are postmature
B)High incidence of infertility
C)Infant develops phenylketonuria
D)High incidence of cardiovascular birth defects
Q2) What is the expected result of a deficiency in the enzyme phenylalanine hydroxylase (PAH)?
A)High levels of phenylalanine;low levels of tyrosine
B)High levels of phenylalanine;high levels of tyrosine
C)Low levels of phenylalanine;low levels of tyrosine
D)Low levels of phenylalanine;high levels of tyrosine
Q3) Which assessment finding in a 6-month-old child suggests a possible lysosomal storage disease?
A)Enlarged,palpable liver
B)Weight in the 95th percentile
C)Does not yet say "mama" or "dada"
D)Skin tone appears slightly lighter than that of either parent
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Chapter 9: Common Childhood-Onset Genetic Disorders
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Sample Questions
Q1) Why does Duchenne muscular dystrophy (DMD)have poor reproductive fitness?
A)Most affected individuals typically do not have children.
B)Fifty percent of mutations of the dystrophin gene are deletions.
C)The loss of functional adhesion proteins prevents reproduction.
D)The expression of disease severity is highly variable among adults.
Q2) Which type of testing is most commonly used to diagnose classic hemophilia?
A)Hematocrit and hemoglobin levels
B)X-chromosome inactivation
C)Genetic mutation analysis
D)Factor VIII levels
Q3) Which factor has the greatest 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
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Chapter 10: Common Adult-Onset Genetic Disorders
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Sample Questions
Q1) Which statement best explains the "thrifty genotype" for the high incidence of type 2 diabetes?
A)The person with a thrifty genotype has an efficient metabolism that generates more energy from less food and is more likely to survive famine.
B)The person with a thrifty genotype conserves the energy lost from the body as heat and requires less rest to perform the same amount of work.
C)The person with a thrifty genotype stores energy rather than expends energy so that more energy is available for survival when food is scarce.
D)The person with a thrifty genotype feels satiety with smaller amounts of food and is less likely to become obese,thus increasing longevity.
Q2) Why do the clinical signs and symptoms of hereditary hemochromatosis not appear until middle adulthood?
A)The adult over 50 has had more exposures to environmental insults over time.
B)Prolonged dietary exposure to toxins produces clinical symptoms.
C)Hereditary hemochromatosis has age-related penetrance.
D)Stored iron builds up over time causing organ damage.
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Page 12
Chapter 11: Cardiovascular Disorders
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Sample Questions
Q1) For patients who have familial hypercholesterolemia,what should be the focus of teaching for blood cholesterol reduction?
A)Eliminating animal fats from the diet
B)Increasing the amount of fruit in the diet
C)Exercising at least 4 to 5 hours every week
D)Taking the lipid-lowering drug as prescribed
Q2) Which lysosomal storage disease is associated with an increased risk for stroke?
A)Fabry disease
B)Gaucher disease
C)Hurler syndrome
D)Tay-Sachs disease
Q3) Which physical finding on a 30-year-old man suggests the possibility of familial hypercholesterolemia?
A)Lipomas
B)Xanthomas
C)Osteoarthritis
D)Hemangiomas
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13
Chapter 12: The Genetics of Cancer
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Sample Questions
Q1) How does an acquired mutation in a somatic cell gene leading to cancer development affect a person's ability to pass on a predisposition for that cancer type to his or her children?
A)The predisposition can only be passed on if the person with the somatic cell mutation is female.
B)The risk for predisposition is dependent upon which tissue type experienced the somatic mutation.
C)Multiple somatic mutations are required for passing on a predisposition to cancer development.
D)There is no risk of passing on a cancer predisposition from a somatic cell mutation.
Q2) By which process does "initiation" assist in cancer development?
A)Enhancing cell division of cells damaged by a carcinogen
B)Inflicting mutations at specific sites on the exposed cell's DNA
C)Increasing the transformed cell's capacity for error-free DNA repair
D)Making cancer cells appear more normal and escaping immunosurveillance
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14
Chapter 13: Genetic Contributions to Psychiatric and Behavioral Disorders
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Sample Questions
Q1) Which "schizophrenia fact" is correct?
A)When schizophrenia has more genetic influence,its onset begins in very early childhood.
B)Copy number variants appear to play the most important role in genetic risk for schizophrenia.
C)When one identical twin is affected with schizophrenia the other most certainly will be affected.
D)Because the phenotype of schizophrenia is so obvious,diagnosis and inheritance risk are the most easily determined of all the psychiatric disorders.
Q2) An adult daughter whose mother has bipolar disorder is concerned that she may also have the disorder because she engages in all of the following behaviors.Which behavior should be explored further as a manifestation of bipolar disorder?
A)Crying whenever she looks at a picture of a close friend who died 3 months ago
B)Refusing to allow her husband to participate in general housekeeping chores
C)Having a strong sense of sleepiness daily in the middle of the afternoon
D)Making frequent purchases of expensive clothing that she never wears
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Chapter 14: Genetic and Genomic Testing
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Sample Questions
Q1) Genetic testing of an asymptomatic woman whose sister is positive for the mutation that is responsible for autosomal dominant disorder that has a 70% penetrance rate would fall into which testing category?
A)Diagnostic predisposition
B)Diagnostic presymptomatic
C)Predictive predisposition
D)Predictive presymptomatic
Q2) Which type of genetic testing examines a person's chromosomes for variations in number or structure?
A)Cytogenetic testing
B)Pre-implantation testing
C)Predictive testing
D)Electropherogram testing
Q3) 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
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Page 16
Chapter 15: Assessing Genomic Variation in Drug Response
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Sample Questions
Q1) How do genetic/genomic issues influence individual variation of 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
Q2) Which type of parent compound must undergo first phase metabolism to produce the intended response after it enters the body?
A)A prodrug
B)An active metabolite
C)An inactive metabolite
D)A sustained-released drug
Q3) Which organ has the greatest concentration of cytochrome P (CYP)450 enzymes?
A)Stomach
B)Kidney
C)Brain
D)Liver
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17
Chapter 16: Health Professionals and Genomic Care
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Sample Questions
Q1) Julia (aged 32)is BRCA<sub>1</sub> positive,which is known to greatly increase the risk for breast and ovarian cancer.She was tested because her mother,who had ovarian cancer,was BRCA<sub>1</sub> positive.Julia has decided to have both of her ovaries removed because she believes that,in her family,being BRCA<sub>1</sub> positive increases the risk for ovarian cancer only.How should a genetic counselor respond to Julia's statement?
A)Encourage her to consider a bilateral mastectomy.
B)Accept Julia's explanation as a manifestation of her autonomy and remain nondirective in the interactions with her.
C)Clarify that a BRCA<sub>1</sub> mutation does not preferentially express ovarian cancer over breast cancer in any given family.
D)Discuss Julia's responsibility to inform all the other female members of her family about her BRCA<sub>1</sub> status and cancer risk.
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18
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Q1) What group(s)of people is/are specifically protected by the Genetic Information and Nondiscrimination Act (GINA)?
A)Veterans and those in the active military
B)Employers trying to use genetic information to make hiring decisions
C)People receiving their health care through federally financed health services
D)People applying for health insurance who have had predictive genetic testing
Q2) Your patient,Maggie,insists that her mother have genetic testing to determine if her breast cancer is connected to a mutation in the BRCA1/2 genes.Maggie is concerned about her own risk for getting breast cancer and that of her children,but Maggie's mom does not want to be tested.What ethical principle is one of several that must be considered in evaluating this case?
A)Maggie's "autonomy"
B)Maggie's mother's "right to know"
C)The nurse's "duty to warn"
D)Maggie's mother's "right to privacy"
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Page 19
Chapter 18: Genetic and Genomic Variation
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Sample Questions
Q1) What pieces of genetic information tend to be passed down from generation to generation with the least variation?
A)Mitochondrial DNA
B)Nuclear DNA
C)Ribosomal DNA
D)Histone proteins
Q2) The Black Death was a pandemic spreading across Europe between 1348 and 1350.Estimates state that 30% to 60% of Europe's population died from the Black Death.If we look at Europe's population before the pandemic and compare it to the population several generations later,what are we likely to find?
A)More genetic diversity in later generations
B)Less genetic diversity in later generations
C)Less genetic diversity in earlier generations
D)The same degree of genetic diversity in later as in earlier generations
Q3) Why is it important to consider population genetics?
A)Natural selection can increase genetic diversity.
B)Accurate assessment of a person's ethnicity can be identified from DNA.
C)Disease risk can vary as a result of the geographic origin of one's ancestors.
D)Knowing ethnicity allows accurate prediction of Huntington disease risk.
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