Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
76 Cards in this Set
- Front
- Back
|
2 examples twins develop different cuz environment
|
finger prints from placental fluid movements
Type I diabetes frequency (in one not other) |
|
|
% live births disease causing monogenic defect?
chromosomal abnormality? |
1%
0.1% |
|
|
# of chromosomes?
how many X and Ys? how many autosomes? what is that? |
46 chromos
1X for male, 1 Y for male 2 X for female 22 autosomes aka pairs of chromosomes bound together |
|
|
4 trisomies w/ live births?
mild symptoms? which one Down? XYY? Klinefelter Turner? |
Down-->21
XYY--> mild, male XXY-->klinefelter X-->females, Turner |
|
|
how does X linked disease differ from autosomal?
mitochondria from autosomal? |
X-linked dominant for males since only one X, can be recessive for females
Mito is maternal only, not passed by father |
|
|
Understand how many offspring will suck at life under different conditions
|
bad- heterozygous dominant
not bad--> mito disease in father |
|
|
explain penetrances effect on family pedigree that has bad genotype but show no symptoms?
|
the penetrance of the disease must be very low so the phenotype is not what the genotype dictates
|
|
|
penetrance and hereditary hemochromatosis? what are environmental factors w/ it?
|
very low penerance, #1 genetic disease in US,
1. low iron diet 2.blood donations 3. gender 4. alcohol |
|
|
why X-linked disease like Duchenne muscular dystrophy seldom effect females?
|
they need 2 of the gene since X linked, males only 1
|
|
|
new inherited disease discovered in which defect only inherited from father, disease most likely?
|
imprinted, aka methylation on father differ than mother so only he can pass on
angelman syndrome- maternal proderwilli- paternal |
|
|
genetic disease never inherited? examples
|
proteus syndrome, cancer
you develop it after birth by mutation |
|
|
genetic defect in huntingtons disease?
|
extra glu residue
|
|
|
most common inherited in US? most common lethal inherited disease in US?
|
hereditary hemochromatosis, not usually lethal at all
cystic fibrosis, real ****** |
|
|
protein defect in cystic fibrosis? which organ greatly effected? why death casued
|
one amino missing
defect CFTR-Cl transporter bacteria get into lung lungs affected bacteria cause repeat infections inflam damage |
|
|
two inherited diseases that have positives that protect against infectious diseases?
|
sickle cell-->malaria
cystic fibrosis--> typhoid fever |
|
|
disadvantages of screening for genetic diseases by gaining DNA seq. info? advangtrages?
|
sumtimes lot to encode to find sumthin
if in one specific location then real useful to find specific defect |
|
|
% freq. for 2 most often occuring mutations of CFTR gene? high mutations in FH?
|
3bp change--> 70%
missense--> 2.5% mutations scattered in FH |
|
|
fava beans, primaquine both problems cuz what gene defect?
|
one that codes for G-6-Pase
|
|
|
decoding of VKORC1 and CYP2C9 help decide what?
|
the dosage of warfarin
|
|
|
27 y.o. father diagnosed with huntingtons, important to?
|
do DNA sequencing to see if they will have it
|
|
|
definition of biopharmaceutical? recombinant DNA?
|
drug produced by living cells
DNA rearranged, moved, flipped |
|
|
describe how one 'recombines' DNA, cutting, hybridizing and ligating? enzymes?
|
cut DNA w/ restriction enzymes
hybridized->H bonds formed Ligation-> phos bonds by ligase |
|
|
plasmid is? example of gene found on plasmid?
|
circle DNA in bacteria
code for resistance |
|
|
difficulty w/ insulin production w/ recombinant DNA?
|
2 separate chains
S-bonds |
|
|
advatages insulin in bacteria? yeast?
|
bacteria-->fast, large yield
yeast-->posttranscriptional mods and correct folding |
|
|
Enbrel a fusion protein? why? also a decoy why?
|
its an antibody with a modified binding domain on it
antibody part allows it to be free in circulation receptor bound by TNF instead of real receptor aka decoy |
|
|
why is inhibited TNF work as biopharmacuetical better than drug?
|
can go into easy circulation?
other would be cheaper and less effectivbe? |
|
|
why produce Enbrel in Chinese Hamster overy cells?
|
mods happen correctly
have folding like human |
|
|
what are many biopharms derived from? why? how changed?
|
derived from monoclonal antibodies
changed so work in humans w/o adverse immune responses |
|
|
what if adverse fatal effect of herception? what other cancer drugs make life ****** cuz this
|
herception stops a recovery mech of replication
if used with Anthracyclin (damaged heart) the heart dont repair and your SOL |
|
|
why are biopharms so damn expensive?
|
hard to establish and regulate production continually
|
|
|
what cant be done with biopharms that sucks and keeps ppl out?
|
patents hold in place cuz generics are hard to tests and so is bioavailibity of them so no generics
|
|
|
what is iodinated by rxn w/ hydrogen peroxide, iodide ion, thyroid peroxidase?
|
tyrosyl residues on thyroglobulin
|
|
|
what are chem names for T3 and T4
|
triidothyronine
tetraidothyronine |
|
|
thyriod follicle structure?
|
central lumen lined w/ epithelial cells fill with protein colliod
|
|
|
limiting step of thyroid hormone syn?
enzyme in iodine pump? thyroid to serum iodine ratio? effects of CIO4 and SCN? |
iodine uptake by follicular cells
auabine senetive Na/K ATPase, req. ATP dur 25:1 CIO4->inhibit pump by similar partial volume SCN->comp. inhibitor |
|
|
function of thyroglobulin? strucuture special? stored where and degraded?
|
lines up idodinated tyrsyl residues close so they react
stored in lumen degrade in cytosol |
|
|
to what proteins are T3 and T4 bound in circulation?
|
thyroxine binding globulin-most t4
thyroxine binding prealbumin-no t3 albumin- half t3 |
|
|
what happens to msot T4 in target tissues? what reverse T3?
|
deiodinated by enzyme making T3
inactive form is reverse T3 |
|
|
where thyroid hormone recptor located? superfamily is?
|
in nucleus
of steriod receptor superfam |
|
|
general effects thyroid hormone
|
mod transcriptional activation
increase DNA, RNA, epidermal growth factor, nerve growth factor growth hormone syn. T3->thermegenic effect |
|
|
what is: goiter
graves disease cretinism myxedema |
goiter->enlarged thyroid gland
graves-> hyperactivity cretinism->neonatal thyroid hormone deficicy(tarded) myxedema->hypothyroidism, slow speech, reflexes, crap memory |
|
|
by what mech antithyroid drugs act? what 131I used for?
|
inhibit organification iodine,
131 I is radioactive used treat hypertyroidism |
|
|
3 bone cells? what each do?
|
osteocytes- chill
osteoblasts- Ca to bone osteoclasts- Ca to blood |
|
|
what mech used to cut bone by clasts?
|
collagenase and acids
|
|
|
three major hormones in calciuum homostatsis? which peptides?
|
PTH- pep
Calcitriol Calcatonin- pep |
|
|
where bone hormones syn?
|
PTH- parathyriod gland
calcitriol- from Vit D in liver? Calcitonin- parafollicular cells of thyriod gland |
|
|
what is effect of each bone hormone?
|
PTH-increase Ca in blood, effects kidney reaborb and excrete phosphate
calcitriol- increases Ca absorption in intestines, P too i think Calcitonin- decrease Ca in blood, treat Pagets disease, bind osteoclasts inhibit PTH |
|
|
Hypeparathyroidism?
hypo? |
hyper lots of PTH caused by adominaa (or sumthin) hyperplasia
oposite for hypo |
|
|
islets of langerhans are? percentage of organ constitute? main types and what secrete?
|
in liver have alpha, beta, D, and F cells
1-2% organ beta-insulin alpha- glucagon D- somatostatin F- sum1 tell me |
|
|
structure of insulin?
|
heterodimeric
A chain, B chain with disulfide bonds |
|
|
rxns take place between preproinsulin and final cleavage in secretory granules? where graules releaased?
|
Preproinsulin--remove signal--> proinsulin
proinsulin + zinc ---cleavage?---> insulin + peptide C released in portal circulation |
|
|
magnitude effects insulin has on cells? 3 enzymes activities increased? 3 decreased?
|
increase--> glucokinase,
phosphofructokinase pyruvate kinase CoA carboxylase HMG-CoA decrease-->G-6-Pase PEP carboxylase fructose 1,6 bisphosphitase |
|
|
location and structure of insulin receptor?
rxn upon binding? what cells not stimulated by insulin to transport glucose? |
on cell, quad setup, 2 aplha, 2 beta (transmembrane beta)
upon binding autophos of Beta not effect liver, brain, erythrocytes transport |
|
|
down regulation for insulin recptors? cirumstances of up reg.? glucose transporter different than insulin recpeotr?
|
down reg. lack of receptors @ surface
up reg. if not expose for a while once insulin complex made glucose transport brought to surface not directly attached |
|
|
effect glucagon on secretion? general effects?
|
glucagon increase insulin
insulin decrease glucagon glucagon--> increase lipolysis, ketogenosis, glycogenlysis increase cAMP by CA |
|
|
general type receptor w/ glucagon? structure of glu?
|
G-protein rector
large proglucagon from alpha cells 29 AA |
|
|
2 locations of somatostatin secretion? func? clincal use?
|
hypothalamus, D cells
inhibit- growth hormone secretion insulin and glucagon secretion used treat hemorraghaging in pancreas + gi tract |
|
|
a few androgens?
a few estrogens? |
A-> testosterone
dehydroepiadrosterone (DHEA) dihydrotestosterone (DHT) E-> 17 B-estradiol (estrogen) that it? |
|
|
hormone needed for embroyo implantation?
|
progesterone
|
|
|
func of DHEA?
|
weak androgen later converted to potent
post memopausal precursor for estrogen inhibit G-6-P deH, reg. NAD+ coenzymes |
|
|
functions cortisol and aldosterone
|
C-> stim. gluconeogensis liver
protein degration muscle mobilize fatties increase blood glucose A-> excreation K+ and retain Na+ w/ conductance channel increase BP and fluid volume |
|
|
role of StAR?
|
hormone induced transport protein factor that mediates acute regulation of steriod hormone biosynthesis
|
|
|
rate limiting step of steroid biosynthesis?
|
conversion of cholesterol w/ side chain cleavage in mito to make preguenolone
|
|
|
role of 5alpha-reductase?
|
convert testosterone to DHT in E.R.
|
|
|
enzyme convert testosterone into estradiol?
|
aromatase (a P450 hydroxylase)
|
|
|
name organ where cortisol and aldosterone produced?
|
adrenal gland, cuz they are adrenal steroids
|
|
|
most common enzyme in steriod biosynthesis?
|
P450 hydroxylase
|
|
|
conversion of cholesterol into pregnenolone occurs in?
|
mito
|
|
|
signal relay and secretiuon cortisol?
|
hypothalamus--CRF--> anterior pituitary--
--ACTH--> adrenal cortex -- --> cortisol -->target negative self feedback |
|
|
signal relay and secretion aldosterone
|
angiotensinogen--renin--->
angiotensin I --ACE--> agiontensin II--ACE--> angiotensin III both II and III active and control aldosterone release |
|
|
scretions and relay of estrdiol and progesterone
|
Hypothalamus--GnRH--->
Anterior Pituaitary-- FSH(E) -- LH (P)--> ovary---> estradiol (from FSH) + progesterone (from LH) |
|
|
role of cholesterol as precursor for lots of ****
|
membranes
bile acids Vit D3 steroid must reg. closly so each one gets it amount |
|
|
3 diseases that are both monogenic and polygenic
|
hypertension
cardiovascular disease type 2 diabetes |
|
|
poly genic diseases
|
neurotube defects ex anencephaly, spina bifida
clef plalet goes on |
|
|
3 inherited mono genic czuse hypertension
polygenic hyper cause by? |
glucocorticoid defect-remediable w/ aldosterone
mineral corticoid excess liddle syndrome- sodium channel defect essential hypertension- aka no ****** clue |
