Genetics and Genomics Flashcards
genome
complete set of genetics
genotype
specific genetics we inherit from parents
phenotype
genetic makeup that generates physical presentation
epigenetics
changes in gene expression due to environmental exposure and personal health behaviors
pharmacogenetics
study of safety and efficacy of medications based on genotype
which nitrogen bases go together?
AT
GC
what is a “gene”
sequence of nitrogen bases that gives instructions to make a protein
what are mutations
permanent changes in DNA sequence
what are autosomes
not sex chromosomes
22 pairs of them
what health issues are common in Down syndrome?
cardiac defects
thyroid
muscular tone issues
cognitive delays
eye conditions
motor skills
what is an autosomal dominant trait?
affected parent has 50% chance of passing it to offspring who will be affected
what is an autosomal recessive trait?
parent can be carrier without being affected. if both parents are non-affected carriers there is 25% chance of affected child and 50% chance of carrier child
what is an x-linked trait
attached to X chromosome
more likely to affect males because there is no second X chromosome to mask effects of X linked trait
