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Bio&Psycho Chapter 9
Genetics and Genomics Perspectives in Nursing
| Question | Answer |
|---|---|
| carrier: | person who is heterozygous; possessing two different alleles of a gene pair |
| chromosome: | microscopic structures in the cell nucleus that contain genetic information and are constant in number in a species (eg, humans have 46 chromosomes) |
| deoxyribonucleic acid (DNA): | the primary genetic material in humans consisting of nitrogenous bases, a sugar group, and phosphate combined into a double helix |
| 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 |
| genetics: | the scientific study of heredity; how specific traits or predispositions are transmitted from parents to offspring genome: |
| genomics: | the study of the human genome, including gene sequencing, mapping, and function |
| genotype: | the genes and the variations therein that a person inherits from his or her parents |
| Human Genome Project: | an international research effort aimed at identifying and characterizing the order of every base in the human genome mutation: |
| nondisjunction: | the failure of a chromosome pair to separate appropriately during meiosis, resulting in abnormal chromosome numbers in reproductive cells (gametes) |
| pedigree: | a diagrammatic representation of a family history |
| phenotype: | a person’s entire physical, biochemical, and physiologic makeup, as determined by the person’s genotype and environmental factors |
| 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 (eg, multiple marker maternal serum screening in pregnancy) |
| 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 (eg, testing for Huntington disease) |
| 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 |
| variable expression: | variation in the degree to which a trait is manifested; clinical severity |
| X-linked: | located on the X chromosome |
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jhrobins99
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