Chapter 8 genetics
A nurse is obtaining health history from a client with a genetic disorder. Which of the following would be most appropriate for the nurse to establish the pattern of inheritance?
Construct a pedigree of the client's family.
In order to develop an awareness of genetics and genomic concepts, what is essential that the nurse do first?
Examine his or her own beliefs and values.
While assessing a client, the nurse notes that the client has numerous freckles on his skin. The nurse interprets this finding as which of the following?
Phenotype
The nurse is preparing a teaching plan for a pregnant woman for the newborn screening done just after birth. When developing the client's teaching plan about the conditions associated with this screening, which condition would the nurse include?
Phenylketonuria
The nurse working in the labor and delivery unit prepares to test for which condition as a part normal newborn screening?
Phenylketonuria
A female client is a carrier for a gene mutation on one of her X chromosomes. Her spouse is unaffected. The nurse understands that which of the following is most likely?
The client's sons have a 50% chance of being affected.
pedigree
a diagrammatic representation of a family history
recessive
a genetic trait that is expressed only when a person has two copies of a mutant autosomal gene or a single copy of a mutant X-linked gene in the absence of another X chromosome
dominant
a genetic trait that is normally expressed when a person has a gene mutation on one of a pair of chromosomes and the "normal" form of the gene is on the other chromosome
mutation
a heritable alteration in DNA sequence
phenotype
a person's entire physical, biochemical, and physiologic makeup, as determined by the person's genotype and environmental factors
Cystic fibrosis is a condition passed on through which type of inheritance?
Autosomol recessive
A client has an autosomal-dominant disorder. His wife is unaffected. When explaining the risk for inheritance of the disorder in their offspring, which statement by the nurse would be most appropriate?
"There is a 50% chance that each of your children will have the condition."
A patient understands that her diagnosis of ovarian cancer syndrome is an autosomal-dominant inherited condition. What is the chance that her daughter will inherit the gene mutation for this disease?
50 %
A nurse working as part of a genetics counseling team is preparing a presentation for a career day discussion at a local college of nursing. When describing the genomic framework for nursing, which of the following would the nurse include as being most important?
Being keenly aware of one's own attitudes and assumptions about genetics and genomics
A nursing student is preparing an oral presentation on cell division. Which of the following would the student include when describing meiosis? Select all that apply.
Occurs in the sex cells Results in haploid daughter cells Leads to a reduction in number of chromosomes
chromosome
microscopic structures in the cell nucleus that contain genetic information and are constant in number in a species (e.g., humans have 46 chromosomes)
Parents request that a test be done to determine if the fetus has Down syndrome. What type of test does the nurse anticipate the physician will order?
Prenatal screening
A patient has been identified as a poor metabolizer for a drug that undergoes CYP 450 metabolism. The nurse interprets this information as indicating which of the following?
The patient is at increased risk for toxicity
genomics
The study of the human genom, including gene sequencing mapping, and function
Students are reviewing the structure of DNA in preparation for a class test tomorrow. They demonstrate understanding of this information when they identify which of the following as a nitrogenous base found in DNA? Select all that apply.
Thiamine Adenine Guanine Cytosine
Human Genome Project
an international research effort aimed at identifying and characterizing the order of every base in the human genom
a person who is heterozygous; possessing two different alleles of a gene pair
carrier
A patient has an autosomal recessive inherited condition. For what type of disorder does the nurse anticipate the patient will be treated?
cystic fibrosis
presymptomatic testing
genetic testing that is used to determine whether persons with a family history of a disorder, but no current symptoms, have the gene mutation (e.g., testing for Huntington disease)
X-linked
located on the X chromosome
The nurse records a client's pattern of inheritance through a diagrammatic representation of the family history. The nurse is documenting the client's
pedigree
Which is the first step in establishing a pattern of inheritance?
pedigree
During a class, a student asks the instructor, "I read something that said that in some conditions, the presence of a gene mutation may not actually lead the person to actually show the trait. How can this be?" The instructor interprets the student's statement as reflecting which of the following
penetrance
A newborn infant's mother requests more information on how the infant has red hair when only a "few" individuals in the family has this trait. What term does the nurse understand the client is speaking about?
phenotype
To ensure ethical nursing care when dealing with genetic and genomic information, which principle would the nurse integrate as the foundation for all nursing care?
respect for people
The nurse is assessing a child with Turner syndrome. The nurse anticipates which finding?
short stature
A nurse is assessing a client of African-American descent. The nurse understands that carrier testing for which condition would be most appropriate for this client?
sickle cell anemia
predisposition testing
testing that is used to determine the likelihood that a healthy person with or without a family history of a condition will develop a disorder
prenatal screening
testing that is used to identify whether a fetus is at risk for a birth defect such as Down syndrome or spina bifida (e.g., multiple marker maternal serum screening in pregnancy)
nondisjunction
the failure of a chromosome pair to separate appropriately during cell division, resulting in abnormal chromosome numbers in daughter cells
genotype
the genes and the variations therein that a person inherits from their parents
deoxyribonucleic acid (DNA)
the primary genetic material in humans consisting of nitrogenous bases, a sugar group, and phosphate combined into a double helix
genetics
the scientific study of heredity: how specific traits or predispositions are transmitted from parent to offspring
Epigenetics
the study of the regulation of gene expression
pharmacogenetics
the study of the safety and efficacy of medication administration based on a person's genotype
genome
the total genetic complement of an individual genotype
variable expression
variation in the degree to which a trait is manifested; clinical severity
