genetics and genomics Flashcards
describe genetics
describes the inherited traits among individuals
speed of growth, appearance, diseases
describe genomics
studying all of an organism genes (genome) to analyze billions of units of DNA in a population
explores how they interact with a given environment
what is phenotype
expression of given genes/observable characteristics
ex: tall vs. short
what is genotype
genetic makeup of an individual
- similar person to person
what is mendelian genetics
predicted inheritance patterns based on “chance”
describe autosomal dominant
affects male/females equally
50% chance of gene expression in offspring with 1 mutation
100% chance with 2 mutations
ex: hereditary Long QT syndrome, familial HTN
describe autosomal recessive
25% chance of gene expression in offspring
ex: sickle cell anemia, cystic fibrosis
describe x-linked
recessive or dominant gene located only on the x chromosome
- common in males d/t them having the gene XY (don’t have dominant X like females)
ex: hemophilia, fragile X syndrome
describe multifactorial diseases
combination of environmental and hereditary effects
ex: heart disease, diabetes, most cancers (esp. breast cancer)
- rarely caused by hereditary in a single gene except for breast ca. (gene BRCA1+2)
what is the difference between genetic testing and genetic screening?
genetic testing: tool to identify individuals predisposed to genetic diseases (genotype, phenotype)
genetic screening: testing of populations/groups independent of positive family history or symptom manifestation (improve management of treatable conditions, provide reproductive options, screen for birth defects)
what are some ethical issues surrounding genomics discussed?
respect patient’s right to self-determination (autonomy)
right to privacy, confidentiality
risk for discrimination
