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Bio&Psycho Chapter 9

Genetics and Genomics Perspectives in Nursing

QuestionAnswer
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
Created by: jhrobins99