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Genetics in Nursing Practice explores the fundamental principles of genetics and genomics as they relate to nursing care. The course covers the role of genes in health and disease, the impact of genetic variations on patient outcomes, and the integration of genetic information into patient assessment, diagnosis, and care planning. Students learn about genetic testing, counseling, ethical considerations, and collaborative strategies to support individuals and families with genetic conditions. Emphasis is placed on the nurse's role in educating patients, advocating for informed decision-making, and applying genetics knowledge to promote individualized care across diverse populations.
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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22 Verified Questions
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Sample Questions
Q1) 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
Q2) What is the correct interpretation of the statement "the HFE gene locus is 6p21"?
A)Both alleles of the HFE gene are equally expressed.
B)The HFE gene is inherited from the paternal chromosome line.
C)The HFE gene alleles are located on the "short arms" of chromosome number 6.
D)There is a somatic cell mutation involving gene allele damage on chromosome 6.
Answer: C
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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Q1) What is the function of ribosomes (also known as ribosomal RNA)in protein synthesis?
A)Allows interpretation of the two strands of DNA to determine which is the "sense" strand and which is the "antisense" strand
B)Serves as the coordinator mechanism to allow proper reading of the mRNA and placement of the correct amino acid in the sequence by the tRNAs
C)Allows further processing of synthesized proteins (post-translational modification in order to ensure that the final product is physiologically active)
D)Serves as a transport molecule able to move a specific amino acid to the site of protein synthesis (peptide chain elongation)in the correct sequence
Answer: B
Q2) How does the process of polyadenylation affect protein synthesis?
A)Binding to the antisense DNA strand to prevent inappropriate transcription
B)Promoting attachment of ribosomes to the correct end of messenger RNA
C)Linking the exons into the mature messenger RNA
D)Signaling the termination of mRNA translation
Answer: D
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Sample Questions
Q1) What is the consequence for a tissue/cell that no longer produces any cell adhesion molecules?
A)The production of three daughter cells with mitosis instead of just two
B)Failure to perform any differentiated functions
C)Conversion from euploidy to aneuploidy
D)Migration of cells into other tissues
Answer: D
Q2) During which phase of gametogenesis is the process of crossing over more likely to occur for either spermatocytes or oocytes?
A)Metaphase I
B)Interphase I
C)Anaphase I
D)Prophase I
Answer: D
Q3) Which stage of cell division is present in mitosis but is missing in meiosis?
A)G<sub>1</sub>
B)S
C)G<sub>2</sub>
D)M
Answer: C

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Sample Questions
Q1) Which common health problem has the highest heritability estimate?
A)Hypertension
B)Peptic ulcer disease
C)Congenital heart disease
D)Schizophrenic behavior
Q2) What is the implication of the Agouti mice experiments with methylation?
A)Methylation has the potential to affect the expression of polygenic traits but not monogenic traits.
B)Epigenetic changes in gene expression can become more severe with each new generation.
C)Some variations in phenotype are not related to DNA allele sequence variation.
D)Epigenetic changes are reversible when DNA repair mechanisms are active.
Q3) If there are 10 possible alleles for the single gene trait of nose shape,how many alleles can a person with euploid chromosomes inherit from his or her biological parents?

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Q1) A male patient is tall and has some gynecomastia along with a low sperm count.During infertility testing,he was found to have a 47,XXY karyotype.Which disorder is consistent with these findings?
A)Normal male
B)Turner syndrome
C)Klinefelter syndrome
D)Testicular feminization syndrome
Q2) What is the most common chromosomal abnormality conceived?
A)Down syndrome
B)Turner syndrome
C)Edward syndrome
D)Klinefelter syndrome
Q3) Which health screening activity is most important for girls and women with Turner syndrome?
A)Mammography
B)Test for osteoarthritis
C)Blood pressure screening
D)Pulmonary function testing
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Sample Questions
Q1) Why is a legend necessary when constructing a pedigree that includes a health history?
A)Gender-altering surgeries require either the drawing of both male and female symbols for the same person or the use of a diamond instead of a circle or square.
B)When a pedigree includes more than three generations,the relationships of members in older (more remote)generations are less clear and must be explained.
C)The gender of individuals lost in the first trimester of pregnancy cannot be established.
D)Health problems do not have standard symbols.
Q2) Martha has Alzheimer's disease.She and her daughter Melanie provided care for Martha's mother Margaret when she had severe Alzheimer's disease.Now Melanie,age 57,is showing signs of impaired memory.Melanie's daughter Megan is pregnant with her first child and has contacted a genetic counselor to discuss Alzheimer's risk in her family.Who in this family is the proband?
A)Margaret
B)Martha
C)Melanie
D)Megan
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Q1) What is the significance of the presence of frontal bossing in one parent and two children within a family as the only physical or developmental abnormality?
A)It is an inherited normal variation of an anatomical feature.
B)All three family members should be referred to a geneticist for a formal evaluation.
C)The family is most likely descended from Neanderthal ancestors rather than from Cro-Magnon ancestors.
D)This physical anatomical malformation is a type of deformation caused by prenatal compression of soft skull areas.
Q2) Which term is used to describe an anomaly caused by a physical or mechanical force that prevents the proper growth of a structure that would have developed normally if the force was not present?
A)Dysplasia
B)Disruption
C)Deformation
D)Malformation
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Q1) Which ethnic group has the highest incidence of Gaucher disease?
A)Ashkenazi Jews
B)Asian Americans
C)American Indians
D)Individuals of Mediterranean descent
Q2) 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
Q3) Which enzyme is deficient in individuals with Hurler syndrome?
A)Alpha-L iduronidase
B)Beta glucosidase
C)Iduronate sulfatase
D)Phenylalanine hydroxylase
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Q1) What is the explanation for creatine kinase (CK)levels in a 14-year-old boy with Duchenne muscular dystrophy being much lower now than they were 5 years ago?
A)His disease is improving.
B)He now performs passive rather than active exercise.
C)Most of the muscle tissue has already been destroyed.
D)The disease is probably Becker muscular dystrophy rather than Duchenne muscular dystrophy.
Q2) Which statement regarding classic hemophilia is true?
A)Females are not affected.
B)Because hemophilia is X-linked recessive,females are affected and males are carriers.
C)Because hemophilia is X-linked recessive,males are affected and females are carriers.
D)The sons of women who are older than age 40 when pregnant are at an increased risk for hemophilia.
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Q1) Why is predictive testing for Huntington disease avoided for a 4-year-old child who has one grandparent with the disorder?
A)Unless one of the parents is positive for the gene mutation,a negative finding would be noninformative.
B)The Huntington disease mutation is poorly penetrant and may never be expressed even when inherited.
C)A 4-year-old child cannot understand or participate in the genetic counseling process.
D)There are no effective primary or secondary prevention strategies for this disorder.
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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Q1) Why is Factor V Leiden disorder considered a form of thrombophilia?
A)Platelet activity is impaired.
B)Blood clots form more easily.
C)Atherosclerosis development is accelerated.
D)Excessive bleeding episodes occur in response to minor trauma.
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 statement about atrial fibrillation is correct?
A)It is the most common genetic cardiac disorder worldwide.
B)A variety of different genes contribute to its expression.
C)It is found exclusively in adults over 60 years old.
D)When severe,it leads to long QT syndrome.
Q4) Which lethal cardiac arrhythmia can occur as a complication of long QT syndrome?
A)Atrial node reentry tachycardia
B)Prolonged atrial fibrillation
C)Mitral valve prolapse
D)Torsade de Pointes

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Q1) Which characteristic(s)is/are associated with an inherited predisposition for a cancer type?
A)Cancers tend to appear at an earlier age than do "sporadic" cancers.
B)These cancers are not picked up by routine cancer screening methods.
C)The carcinogenesis stage of "promotion" is not required for cancer development.
D)They are passed on only to the children of the same gender as the parent with the predisposition.
Q2) How does a MSH2 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) What is thought to be the usual function of a normal BRCA1 gene?
A)Enhances overall cell growth during puberty
B)Directs the development of normal breast tissue
C)Increases the expression of cytochrome P450 enzymes
D)Suppresses the growth potential of a variety of oncogenes
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Sample Questions
Q1) What is the heritability estimate for schizophrenia in the general population?
A)40%
B)60%
C)80%
D)100%
Q2) Which condition or behavior suggests attention deficit hyperactivity disorder (ADHD)?
A)A 5-year-old who does not want to go to bed at 8:00 p.m.and begs to be allowed to stay up later.
B)An 8-year-old who can hop on one foot but cannot ride a bicycle without training wheels.
C)A 9-year-old who does not focus on a favorite story or game for longer than 3 minutes.
D)A 10-year-old who prefers to play basketball rather than chess.
Q3) What is the heritability estimate for addiction to alcohol in both males and females?
A)10% to 20%
B)20% to 40%
C)50% to 60%
D)60% to 80%

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Q1) What is the major disadvantage to the fluorescence in situ hybridization (FISH)method of genetic testing?
A)Single nucleotide mutations cannot be detected.
B)Depending on the skill of the technician,the rate of false positives is high.
C)The sample for testing must be obtained from living tissue rather than from a preserved specimen.
D)Results are not available quickly because cells must first be grown in culture before testing can be performed.
Q2) What type of genetic test provides information about an asymptomatic person's risk for having a child with a specific autosomal recessive disorder in the future?
A)Carrier test
B)Diagnostic test
C)Newborn screening
D)Predictive test
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Q1) A patient with a fractured elbow in the emergency department states that he needs morphine for pain rather than codeine because the last time he had a painful injury,codeine was not effective in managing his pain.What is the nurse's best response or action?
A)Ask the patient how much alcohol he ingests daily.
B)Communicate this information to the admitting physician.
C)Alert the health-care provider that this patient is "drug-seeking."
D)Reassure the patient that he will receive progressively higher dosages of codeine until his pain is controlled.
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
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17
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Q1) Why are general physicians and surgeons NOT considered to be genetics professionals?
A)The typical patients seen by these health-care providers have acute conditions rather than chronic conditions,and thus genetic influence is irrelevant.
B)Most of today's physicians and surgeons were educated before completion of the human genome research project.
C)These health-care professionals have minimal experience with genetics laboratory techniques.
D)The focus of their professional education is the study of medicine rather than genetics.
Q2) Which genetics professional has the defined responsibility for overseeing the work in a cytogenetic laboratory?
A)Clinical laboratory geneticist
B)Genetic laboratory technician
C)Cytogenetics technician
D)Medical geneticist
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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 disorder severity 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) A scientist in a distant country is working to develop a genetic test that will screen embryos so that only those producing tall children with beautiful features will be implanted.What area of genetic work or studies does this example represent?
A)Eugenics
B)Cybernetics
C)Cytogenetics
D)Genetic imprinting
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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) 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.
Q3) 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
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