Chapter 6 Genetic Concepts For Medical Surgical Nursing Flashcards
Define “genomics”
The science focusing on the function of all of the human DNA, including genes and noncoding DNA regions.
Define “genomic health care”
The application of known genetic variation to enhance health care to individuals and their families.
Define “heritability”
The risk that a disorder can be transmitted to one’s children in a recognizable pattern.
Define “genes”
The deoxyribonucleic acid (DNA) in the form of chromosomes within the nucleus of each cell that contains the instructions for making all the different proteins any organism makes. Every human cell with a nucleus contains the entire set of human genes.
Define “nucleotide”
The final form of a base that actually gets put into the strand of deoxy ribonucleic acid. A nucleoside becomes a complete nucleotide by the attachment of phosphate groups.
Define “mitosis”
Cell division
Define “locus”
The specific chromosome location for a gene.
Define “karyotype”
Technique used to make an organized arrangement of all the chromosomes within one cell during the metaphase section of mitosis.
Define “euploid”
Having the correct number of chromosome pairs for the species.
Define “aneuploid”
An abnormal karyotype with more or fewer than 23 pairs of chromosomes.
Define “autosomes”
Any of the 22 pairs of human chromosomes containing genes that code for all the structures and regulatory proteins needed for normal function but do not code for sexual differentiation of a person.
Define “sex chromosomes”
The pair of chromosomes containing the genes for sexual differentiation in humans. In males, the sex chromosomes are an X and a Y; in females, the sex chromosomes are two Xs.
Define “gene”
The deoxyribonucleic acid (DNA) in the form of chromosomes within the nucleus of each cell that contains the instructions for making all the different proteins any organism makes. Every human cell with a nucleus contains the entire set of human genes.
Define “allele”
An alternate form (or variation) of a gene.
Define “phenotype”
Any genetic characteristic that can actually be observed or, in some cases, determined by laboratory test.
Define “genotype”
The actual alleles for a genetic trait, not just what can be observed.
Define “protein synthesis”
The process by which genes are used to make the proteins needed for physiologic function.
Define “mutation”
A change in deoxyribonucleic acid (DNA) that is passed from one generation to another.
Define “polymorphism”
A variation in form.
Define “point mutations”
The substitution of one base for another.
Define “frameshift mutations”
A mutation that occurs as a result of adding or deleting a single base or a group of bases.
Define “pedigree”
A graph of a family history for a specific trait or health problems over several generations.
Define “penetrance”
In genetics, how often or how well a gene is expressed when it is present within a population.
Define “expressivity”
In genetics, the degree of expression a person has when a specific autosomal dominant gene is present. The gene is always expressed, but some people have more severe results.
