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Pharm Ch. 5

NOT on TEST!!

QuestionAnswer
What is acquired disease? any disease triggered by external factos and not directly caused by a person's genes
What is Alleles? the 2 or more alternative forms of a gene that can occupy a specific location on a chromosome
What is Chromatin? A collective term for all of the chromosomal material within a given cell
What is chromosomes? structures in the nuclei of cells that contain linear threads of DNA which transmit genetic info., and are associated with RNA molecules and synthesis of protein molecules
What are genes? The biologic unit of heredity, a segment of a DNA molecule that contains all of the molecular info. required for the synthesis of a biologic product such as an RNA molecule or an amino acid chain
What is gene therapy? New therapeutic technologies that directly target human genes in the treatment or prevention of illness
What is genetic disease? Any disorder caused directly by a genetic mechanism
What is genetic material? DNA and RNA molecules or potions thereof
What is genetic polymorphism? allele variants that occur in the chromosomes of 1% or more of the general population
What is genetic predisposition? the presence of certain factos in a person's genetic makeup, or genome, that increase the individual's likelihood of eventually developing one or more diseases
What is Genetics? the study of the structure, function, and inheritance of genes
What is genome? The complete set of genetic material of any organism, it may be contained in multiple chromosomes in higher organisms, is a single chromosome as in bateria, or in a single DNA or RNA molecule, as in viruses
What is genomics? The study of the structure and function of the genome, including DNA sequencing, mapping, and expression, and the way genes and their products work in both health and disease
What is genotype? The particullar alleles present at a given site on the chromosomes of an organism that determin a specific genetic train to that organism
What is heredity? the characteristics and qualities that are genetically passed from parents to offspring
What is Human genome project? A scientific project of the U.S. department of energy and national institutes of health to describe in detain the entire genome of a human being
What is inherited diseases? genetic diseases that result from defective alleles passed from parents to offspring
What is nucleic acids? molecules of DNA and RNA in the nucleas of every cell, DNA makes up the chromosomes and encodes the genes
What is personalized medicine? The use of toods such as molecular and genetic characterizations of both disease processes and the pt for the customization of drug therapy
What is pharmacogenetics? A general term for the study of the genetic basis for vatiaions in the body's response to drugs, with a focus on vaiations related to a single gene
What is phenotype? the expression in the body of a genetic trait that results from a person's particular genotype for that trait
What is pharmacogeomics? a branch of pharacogenetics that involves the surbey of the entire genome to detect muligenic determinants of drug response
What is Proteome? The entire set of proteins produced from the info. encoded in a organism's genome
What is proteomics? the detailed study of the proteome, including all biologic actions of proteins
What is recombinant DNA? DNA molecules that have been artificially synthsized or modified in a lab setting
Genetic research is one of the most? active branches of science today
Expected outcome of genetic research include? increasingly deeper knowledgy of the genetic influences on disease, along with the development of gene-based therapy
What is the purpose of NCHPEG? to promote the education of health professionals and the public regarding advances in applied genetics
The study of genetics has become commonplace in? secondary and primary education
What are the two compounds in nucleic acid? DNA and RNA
What makes up the genetic material that is passed between all types of organisms? DNA
In viruses how do they pass on? RNA
What is a chromosome? essentially a long strand of DNA that is contained in the nuclei of cells
What do DNA molecules act as? a template for the formation of RNA molecules, from which proteins are made
How many pairs of chomosomes do humans have? 23
What cells are chromosomes in? somatic cells
somatic cells are all thecells in the body other than? sex cells
There are only 23 single unpaired chromosomes in sex cells, one pair in each cells are termed? sex chromosomes
sex chromosomes can be either? X or Y
What is XX? female
What is XY? male
One pair of chromosomes come from? and one come from? mother, father
Genetic traitts can be? desirable or undesirable
The allele may be? dominant or recessive
A particular combination of alleles for a given trait normally determines? wether or not a person manifests that trait
Traits that are passed on differently to males and females are called? sex linked traits, because they are carried on X or Y
Not all genetic diseases are? inherited diseases
What genetic diseases are not inherited diseases? they are because of a bad chromosome
Enviromental factors can? initiate or worsen disease processes
What 4 organic bases does DNA include? adenine, guanin, thymine, and cytosine
What are A,G,T,and C attached to? deoxyribose
What is deoxyribose attached to? chain of phosphate molecules
What is the main 2 differences between DNA and RNA? RNA's sugar molecule is ribose instead of doxyribose and thymine is replaced by uracil
RNA is usually? A single strand
For a double helix how does it bind? Hydrogen bonds
Adenine can bind with? Guanine
Cytosine can only bind with? thymine or uracil
What is a nucleotide? structural unit of DNA and consists of a single base and its attached sugar and phosphate molecules
What is a nucleoside? the base and attached sugar without the phosphate molecule
What is a relatively small sequence of nucleotides? oligonucleotide
What does targeted drug therapy focus on? on modifying the function of immune system cells and biochemical mediators of immune response
What is antisense oligonucleotide (new drug class)? an oligonucleotide with a chemical structure that is opposite to that of a critical part of the messenger RNA of the cytomegalovirus
What does genome mean? gene and chromosome
Protein molecules drive the functioning of? all biochemical reactions in living organisms
What is they primary function of DNA in human cells? protein synthesis
What controls the shape of protein synthsis? amino acid sequence
What are mutations? undesired changes in DNA sequence
What can mutation do? affect the shape of protein molecules and impair and destroy their functioning
What forms after DNA uncoil? mRNA
What is it called when mRNA is formed? transcription
After mRNA strands are detached from DNA they? leave the cell nucleus and enter the cytoplasm
mRNA stands are translated (read) by what? ribosomes
Ribosomes are composed of a second type of RNA called? ribosomal RNA
The translation proces involves molecules a third type of RNA called? transfer RNA (tRNA)
What are chains of multiple amino acids? polypeptide chains
Manipulation of genetic material (gene therapy) can synthesis of these proteins and therefore? aid in the treatment of disease
What is the human genome project's goal? to identify the estimated 30,000 genes and 3 billion base pairs in the DNA of an entire human genome
An increased knowledge about allelic variation and its role in disease susceptibility can be used to? guide attemps at preventive therapy based on a person's genotypic risk factors
What is the general goal for gene therapy? to transfer to the pt exogenous genes that will either provide a temporary substitient exogenous genes that will either provide temporary substiture from, or initiate permanent changes in the pt's own genetic functioning to treat a given disease
in utero gene therapy may be used to prevent? the develoopoment of serious diseases as part of prenatel care for the unborn infant
What is gene transfer? DNA being injected into the pt's body
The artifical DNA splices into? recombinant DNA (rDNA) and it will be placed in some kind of carrier or vectoer the the gene transfer process
Viruses are the most? wildely studied rDNA vectors
What is adrenovirus? flu virus
Viruses used for gene transfer can induce? viral disease and can be immunogenic in the human host
what is one indirect form of gene therapy? the use of rDNA vectors in the lab to make recombinant forms of drugs
People who recieve gene therapy have? life threatening illnesses
any institution that conducts any type of research involving human studies? must have an institutional review board (protect research), an institutional biosafety committee (ensure compliance
What is eugenics? the intentional selection before birth of genotypes that are considered more desirable than others
Gene therapy in what kind of cells is illegal? germ line (reproductive)
The ultimate goal is to? predict pt drug response and proactively tailor drug slection and dosages for optimal treatment outcomes
What does polymorphism mean? many forms
Polymorphisms are considered to be too frequent to result from? genetic mutation
Polymorphisms that alter the amount of functioning of drug metabolizing enzymes can alter thee? body's reactions to medications, drug receptor proteins, cell membrane ion channels and drug transport proteins, and intracellular second messenger proteins
You can be a poor or rapid? metabolizer
Studying both the genome of the pt and the presenting genetic features of the pathology can also allow for? customized drug selection and dosage
What is personalized medicine? Where you can permit the avoidence of drugs less likely to be effective as well as optimization of drug dosages to minimize the risk of adverse drug effects for a given pt
Most drug dosage changes are still usually made on? a trial and error basis
What may one day be treated by gene therapy? disease from bith, disabilites, life threatening illnesses, and even chronic illnesses
What is the nurses role in genetic testing? history, pt drug histories, resources for pt's, maintaining confidentiality, consent, and counseling
Created by: alicia.rennaker
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