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Pharm Ch. 5
NOT on TEST!!
Question | Answer |
---|---|
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 |