AAMC FL3 BBCF Flashcards
five types of inheritance
autosomal dominant: requires only one allele; both sexes affected
autosomal recessive: requires both alleles; both sexes affected
x linked dominant: requires only one allele; affects all children bc one parent donates one chromosome
x linked recessive: requires both alleles; males affected more than females
y linked: male exclusive; all male offsprings will be affected
imprinted genes
gene will only be expressed from the maternal or paternal chromosome; thus expression of only one copy despite having two bc one is “silenced” as a result of epigenetic marking,
Imprinted genes are re-marked according to the individual’s own sex in their gametes.
i.e. in Angelman’s syndrome, only the maternally-inherited copy of the gene is active. For a male, the active Angelman’s gene (inherited from his mom) will be marked as silent in his sperm (since that gene copy will be paternally inherited by the resulting zygote).
types of evolution
- convergent
- divergent
- parallel
- coevolution
Convergent - two different species in same environment adapt in similar ways
Divergent - same animals are separated by geographics and adapt to those environment, making new species
Parallel - Same lineage, evolving closer together to be similar, using similar mechanisms.
Coevolution - Two species evolve in response to each other
sympatric speciation vs allopatric
sympatric speciation: two species occupy the same area; biological barrier prevents them from merging
allopatric speciation: two species occupy different areas; physical barrier prevents them from merging
how do isoforms form in prokaryotes vs eukaryotes
in pro: an operon containing two genes in prokaryotic cells is transcribed from a single promoter upstream of the first gene in the operon
in eu: alternative splicing allows diff amts of exons to be expressed from the same gene, thus yielding diff isoforms
what increases the contractile force of the heart
increased levels of intracellular calcium
histone acetylation
histone acetylation would promote transcription as it would result in the histone becoming “less positive” and unable to interact as strongly w the negatively charged phosphates on DNA
loosening of DNA around histones allows transcription to occur more readily bc of the increased exposure of the transcribable sites
DNA methylation
dna methylation would inhibit transcription as it would prevent the binding of transcription factors to that specific gene of the DNA sequence
this leads to less expression of that gene
what system do these brain parts interact with
- adrenal medulla
- hypothalamus
ADRENAL MEDULLA: secretes epinephrine and norepinephrine in response to short-term stress; reactions to short-term stress are mediated by the sympathetic branch of the autonomic nervous system.
HYPOTHALAMUS: controls the pituitary gland, initiating the stress response; regulates temperature, thirst, and appetite via the endocrine system
restriction enzymes recognize what
a four-base sequence or a six-base sequence
ideal conditions for an enzyme
while the optimum pH value varies greatly from one enzyme to another, the optimum temperature for enzymes is normally 37 °C
epithelial cells
specialized cells for secretion, esp of mucous (thus can be found in any area of the body that is exposed to the environment)
a decrease in ions in the blood results in what
decrease in osmotic pressure, also decrease of ion concentration relative to the tissues
based on osmosis, water will flow from the blood to the tissues in order to reestablish osmotic pressure in the blood
an excess of unabsorbed fats in the intestine will ____
inhibits normal water and electrolyte absorption, resulting in increased osmotic pressure and diarrhea
what inhibitors reversibly bind? (3)
which ones bind irreversibly? (4)
reversible: eventually fall off or can be outcompeted w excess substrate
eg. competitive, non-, un-
irreversible: covalently bonds to the enzyme at the active site, denaturing it
eg. group-specific reagents, reactive substrate analogs, affinity labels and suicide inhibitors