Lilley Chapter 8: Gene Therapy and Pharmacogenomics

acquired disease

any disease triggered by external factors and not directly caused by a person's genes (e.g., an infectious disease, non congenital cardiovascular diseases)

alleles

the two or more alternative forms of a gene

chromosomes

structures in the nuclei of the cells that contain threads of DNA, which transmit genetic information, and are associated with RNA molecules and synthesis of protein molecules

gene

the biologic unit of heredity; a segment of DNA molecule that contains all of the molecular information required for the synthesis of a biologic product such as an RNA molecule or an amino acid chain (protein molecule)

gene therapy

new therapeutic technologies that directly target human genes in the treatment or prevention of illness

genetic disease

any disorder caused directly by a genetic mechanism

genetic material

DNA or RNA molecules or portions thereof

genetic polymorphisms (PMs)

variants that occur in the chromosomes of 1% or more of the general population

genetic predisposition

the presence of certain factors in a person's genetic makeup, or genome that increase the individual's likelihood of developing one or more diseases

genetics

the study of the structure, function and inheritance of genes

genome

the complete set of genetic material of any organism

genomics

the study of the structure and function of the genome, and the way genes and their products work in both health and disease

genotype

the particular alleles present at a given site of then chromosomes that determine a specific genetic trait for that organism

heredity

the characteristics and qualities that are genetically passed from one generation to the next through reproduction

human genome project (HGP)

a scientific project of the U.S Department of energy and National Institutes of Heath to describe in detail the entire genome of a human being

inherited disease

genetic disease that results form defective alleles passed from parents to offspring

nucleic acids

molecules of DNA and RNA in the nucleus of every cell. DNA makes up the chromosomes and encodes the genes

personalized medicine

the use of molecular and genetic characterizations of both eh disease process and the patient for the customization of drug therapy

pharmacogenetics

a general term for he study of the genetic basis for variations in the body's response to drugs, with a focus on variations related to a single gene

pharmacogenomics

a branch of pharmacogenetics that involves the survey of the entire genome to detect multi-genetic determinants of drug response

phenotype

the expression in the body of a genetic trait that results from a person's particular genotype for that trait

recombinant DNA (rDNA)

DNA molecules that have been artificially synthesized or modified in a laboratory setting

which is the most appropriate example of a product formed by an indirect form of gene therapy?

a) stem cells

b) vaccines

c) antigen substitution

d) platelet inhibitors

b) vaccines

the nurse is explaining the general goal of gene therapy to a patient. with gene therapy, the general goal is to transfer exogenous genes to a patient for which result?

a) to change the patient's own genetic functioning to treat a given disease

b) to improve drug metabolism

c) to prevent genetic disorders in the patient's future children

d) to stimulate the growth of stem cells

a) to change the patient's own genetic functioning to treat a given disease

the nurse is reviewing genetic concepts. which is considered the biologic unit of heredity?

a) gene

b) allele

c) chromosome

d) nucleic acid

a) gene

the presence of certain factors in a person's genetic makeup that increase the likelihood of eventually developing one or more diseases is known as a:

a) genetic mutation

b) genetic polymorphism

c) genetic predisposition

d) genotype

c) genetic predisposition

the nurse is reviewing gene therapy. which is the primary molecule in the body that serves to transfer genes from parents to offspring?

a) RNA

b) DNA

c) allele

d) chromosome

b) DNA

general responsibilities of the nurse regarding genetics may include which of these activities? (select all that apply)

a) assessing the patient's personal and family history

b) referring the patient to a genetic counselor or other genetics specialist

c) communicating the results of genetic tests to the patient and patient's family

d) maintaining privacy and confidentiality during the testing process

e) answering questions about genetic test results

a) assessing the patient's personal and family history

b) referring the patient to a genetic counselor or other genetics specialist

d) maintaining privacy and confidentiality during the testing process

the nurse is assessing a patient for a possible increased risk for genetic disorders. which of these, if present, may indicate an increased risk for a genetic disorder? (select all that apply)

a) having a brother who died of a MI at age 29

b) having a family member who has been diagnosed with more than one type of cancer

c) having an uncle who was diagnosed with prostate cancer at age 73

d) a history of allergy to shellfish and iodine

e) having a maternal grandmother, two maternal aunts, and a sister who where diagnosed with colon cancer

a) having a brother who died of a MI at age 29

b) having a family member who has been diagnosed with more than one type of cancer

e) having a maternal grandmother, two maternal aunts, and a sister who where diagnosed with colon cancer

liquid potassium chloride is ordered as follows: give 16 mEq per PEG tube twice a day. the dose on hand contains 20 mEq/15 mL. How much will the nurse give per dose (mL)?

12 mL