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245 Cards in this Set
- Front
- Back
|
What is orotic aciduria(physiology,findings,tx)
|
inability to convert orotic acid to UMP due to defect in UMP synthetase; increased orotic acid in urine,megaloblastic anemia that isn't improved by B12, failure to thrive,no hyperammonemia;oral uridine administration.
|
|
|
What is adenosine deaminase deficiency(give physiology)
|
Excess ATP and dATP via inhibition of ribonucleotide reductase->prevents dna synthesis and decrease lymphocyte count causing SCID.
|
|
|
What is Lesch-Nyan syndrome(physiology,findings)
|
defective purine salvage pathway due to absence of HGPRT; excess uric acid leads to retardation,self-mutilation,hyperuricemia,gout,choresoathetosis.
|
|
|
Mutation in ataxia telangiestica
|
nonhomologous end joining, which repairs dsDNA breaks.
|
|
|
mutaiton in xeroderma pigmentosum
|
nucleotide excision repair, which releases damaged bases
|
|
|
What cell types are permanent
|
neurons, skeletal and cardiac muscle, RBCs
|
|
|
what cells types are stable(quiescent)
|
hepatocytes,lymphocytes
|
|
|
what cell types are labile?
|
bone marrow, gut epithelium,skin,hair follicles,germ cells
|
|
|
I-cell disease(physiology,findings)
|
inclusion cell disease, failure of addition of mannose-6-phosphate to lysosome proteins which leads to lysosomal storage disease(proteins never added to lysosome);coarse face,clouded cornea,high plasma levels of lysosomal enzymes.
|
|
|
Chediak-Higashi syndrome(physiology,findings)
|
mutation in lysosomal trafficking regulator gene (LYST), microtubule sorting does not occur;recurrent pyogenic infections,partial albinism,peripheral neuropathy.
|
|
|
vimentin stains:
|
connective tissue
|
|
|
desmin stains:
|
muscle
|
|
|
cytokeratin stains:
|
epithelial cells
|
|
|
GFAP stains
|
neuroglia
|
|
|
neurofilaments stain
|
neurons
|
|
|
type I collagen(found in,defective in:)
|
bone,skin,tendon,dentin,cornea,late wound repair;defective in osteogenesis imperfecta.
|
|
|
type II collagen(found in)
|
Cartilage(hyaline),vitreous body,nucleus pulposus)
|
|
|
type III collagen(found in, defective in)
|
reticuin,skin,blood vessels,uterus,granulation tissue,fetal tissue;Ehler's danlos
|
|
|
Type IV collagen(found in, defective in)
|
basement membrance and basal lamina;alport sydrome
|
|
|
Marfans syndrome is a defect of:
|
Fibrillin(found in elastin)
|
|
|
Prader-Willi syndrome(genetics,findings)
|
paternal allele on chromosome 15 is not expressed;mental retardation,hyperphagia,obesity,hypogonadism,hypotonia
|
|
|
Angelman's syndrome(genetics,findings)
|
Inactivation of mother's allele on chromosome 15; mental retardation,seizures,ataxia,inappropriate laughter
|
|
|
Achondroplasia(dominance,physiology,findings)
|
Autosomal dominant. defect in fibroblast growth factor(FGF)receptor 3.;Dwarfism,short limbs,larger head but normal trunk.assoc with advanced paternal age.
|
|
|
Autosomal-dominant polycycstic kidney disease(ADPKD)(dominance,physiology,findings)
|
Autosomal dominant;mutation in PKD1, chromosome 16;bilat. massively enlarged kidneys, multiple huge cysts. assoc w/polycystic liver dx,berry anerusyms,mitral valve prolapse.
|
|
|
what diseases are associated with ADPKD?
|
polycystic liver disease, berry aneurysms, mitral valve prolapse.
|
|
|
Familial adenomatous polyposis(dominance,physiology,findings)
|
autosomal dominant;mutation on APC gene. chromosome 5;colon covered in polyps after puberty.
|
|
|
Hereditary hemorrhagic telangiectasia(osler-weber-rendu syndrome)(dominance,physiology,findings)
|
autosomal dominant;inherited disorder of blood vessels;telangiectasia, recurrent epistaxis, AVMS, skin discolorations.
|
|
|
Hereditary spherocytosis(dominance,physiology,findings)
|
autosomal dominance;spheroids due to spectrin or ankyrin defects;hemolytic anemia, increased MCHC, need spleenectomy to cure.
|
|
|
Huntington's disease(dominance,physiology,findings)
|
autosomal dominant;CAG trinucleotide repeat gene on chromosome 4;depression,caudate nucleus atrophy,chorioform movements,decreased levels of GABA and Ach in the brain.
|
|
|
Neurofibromatosis type 1(von recklinghausen disease)(dominance,physiology,findings)
|
autosomal dominant;mutation in long arm of chromosome 17;cafe-au-lait spots,neural tumors,lisch nodules, optic gliomas.
|
|
|
neurofibromatosis type 2(dominance,physiology,findings)
|
autosomal domaint;NF2 gene on chromosome 22;bilateral acoustic schwannomas, juvenile cataracts
|
|
|
Tuberous sclerosis(dominance,findings)
|
autosomal dominant;facial lesions,hypopigmented ash leaf spots,cotical and retinal hamartomas,seizures,cardiac rhabdomyomas,increased incidence of astrocytomas.
|
|
|
von Hippel-Lindau(dominance,physiology,findings)
|
autosomal dominant;deletion of VHL gene(a suppressor) on chromosome 3 which results in constitutive expression of HIF and increased angiogenic factos;hemangioblastomas,bilateral multiple renal cell carcinomas.
|
|
|
Cystic fibrosis(dominance,physiology,findings)
|
autosomal-recessive;defect in CFTR on chromosome 7. CFTR is a calcium channel;meconium ileus in newborns,bronchiectasis,pancreatic insufficiency,nasal polyps,intertility in males due to missing vas deferns.
|
|
|
what lab is diagnostic for cystic fibrosis?
|
increased calcium concentration in sweat (calcium channel can't resorb in skin. Note: in lungs this channel is supposed to EXCRETE calcium).
|
|
|
Fragile-X syndrome(dominance,physiology,findings)
|
X-linked;defect in methylation of FMRI gene,is a CGG trinucleotide repeat;mental retardation,macroorchidism,long face and jaw,everted ears,autism, mitral valve prolapse.
|
|
|
Duchenne's dystrophy(dominance,physiology,findings)
|
X-linked frameshift;deletion of dystrophin gene leads to accelerated muscle breakdown;pseudohypertophy of calf,pelvic and girdle muscle weakness at first,onset before 5, use gowers manuever.
|
|
|
Why do mutaitons in dystrophin gene occur so often?
|
longest gene in the human genome, anchors muscle fibers.
|
|
|
What are the pregancy quad screen results for down syndrome?
|
decrease a-fetoprotein,estirol. increased B-HcG, inhibin A.
|
|
|
What are the pregancy quad screen results for edwards syndrome?
|
decreased: a-fetoprotein,BHcg, estriol. normal: inhibin A.
|
|
|
What are the pregnancy quad screens for Patau's syndrome?
|
decreased: B-HcG, PAPPa and increased:Nuchal translucency.
|
|
|
Cri-du-chat syndrome(dominance,physiology,findings)
|
congenital microdeletion of short arm of chromosome 5;microcephaly,mental retardation,mewing sounds,epicanthal folds,VSD.
|
|
|
Williams syndrome(dominance,physiology,findings)
|
congenital microdeletion of long arm of chromosome 7,region deleted contains elastin gene;elfin facies,intellectual disability,extreme friendliness.
|
|
|
What are the fat soluble vitamins?
|
ADEK. dependent on ileum and pancreas, tend to accumulate in fat more.
|
|
|
vitamin A(function, defiency,excess)
|
visual pigments(retinal),essential for epithielial ceel differentiation,prevents squamous metaplasia, used in measles and AML type M3 tx; night blindness, dry skin;arthralgias,fatigue,alopecia,teratogenic!
|
|
|
Vitamin B1(thiamin)(function, defiency)
|
thiamine pyrophosphotase part of: pyruvate DH,A-ketoglutartate DH,trasketolase,branched-amino acid DH; defiency causes wernicke-korsakoff, berberi, low ATP.
|
|
|
Wernicke-Korsakoff syndrome(cause, findings)
|
B1(thiamin) defienceincy;confusion, opthalmoplegia,ataxia,confabulation,permanent memory loss,damage to medial dorsal nucleus of thalamus, mammary bodies.
|
|
|
Dry beriberi(cause, findings)
|
low B1(thiamin); polyneuritis, symmetrical muscle wasting
|
|
|
Wet beriberi(cause,findings)
|
high output cardiac failure(dilated cardiomyopathy), edema.
|
|
|
vitamen B2(riboflavin)(function, defiency)
|
cofactor in ox/redux reactions, make FAD and FMN; Cheilosis(inflammation and scaling of lips, corner of mouth), corneal vascularization (2C's of B2)
|
|
|
vitamin B3(niacin)(function, defiency,excess)
|
made from tryptophan, makes NAD. synthesis requires B6!;Glossitis,pellagra(diarrhea,dementia,dermatitis); excess = facial flushing.
|
|
|
vitamin B3 deficiency can be caused by what primary things?
|
1. hartnup disease (decreased tryptophan absorption) 2.Malignant carcinoid syndrome(increased tryptophan metabolism) 3. INH (decrease B6). All lead to pellagra.
|
|
|
Vitamin B5(pantothenate)(function, defiency)
|
Essential part of CoA and fatty acid synthase; dermatitis,enteritis,alopecia,adrenal insufficiency.
|
|
|
vitamin B6(pyridoxine)(function, defiency)
|
converted to pyridoxal phosphate which transaminates ALT and AST,synthesizes heme,niacin,histamine,serotonin,epinephrine,norepi, GABA.;convulsions,hyperirratability,peripheral neuropathy,sideroblastic anemia due to increased heme production.
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|
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Vitamin B7(biotin)(function, defiency)
|
cofactor for carboxylation enyzmes(pyruvate carboxylase,acetyl-Coa carboxylase,Propionyl-CoA carboxylase.;very rare, dermatitis,alopecia,enterisis. can be caused by antibiotic use or raw egg overconsumption.
|
|
|
Vitamin B9(folic acid)(function, defiency)
|
converted to tetrahydrofolate, makes nitrogenous bases for RNA and DNA; small pool in liver, macrocytic,megaloblastic anemia, common in alcoholism and pregnancy.
|
|
|
vitamin B12(cobalamin)(function, defiency)
|
cofactor for homocysteine methytransferase and methylmalonyl-CoA mutase, very large reserve pool in liver that takes years to use; macrocytic,megalobastic anemia, hypersegmented PMNs,neurologic symptons.
|
|
|
What are the two vitamin defiency causes of macrocytic,megalolastic anemia? Differences?
|
B9(folic acid) -> no neurologic symptoms. most common type, very small reserve pool. common in pregnancy and alcoholism. B12(cobalamin)has neuro symptoms. HUGE reserve pool in liver.
|
|
|
Vitamin C(function, defiency,excess)
|
facilitates Fe absorption, needed to make collagen, also needed to convert dopamine to NE; scurvy-swollen gums,brusing,hemearthrosis,weak immune system;nausea,vomitting,sleep problems, increased risk of iron toxicity.
|
|
|
Vitamin D(function, defiency,excess)
|
increased intestinal absorption of calcium and phosphate, increased bone minerlization; Rickets in kids, osteomalacia in adults, hypocalcemic tetany; hypercalcemia,hypercalciuria,loss of appetite, seen in sarcoidosis.
|
|
|
Vitamin E(function, defiency,excess)
|
antioxidant, protects erthrocytes and membranes from free radical damage; increased fragility of erythrocytes, posterior column and spinocerebellar tract demyelination.
|
|
|
Vitmain K(function, defiency,excess)
|
Catalyzes gamma-carboxylation of glutamic acid residues on clotting factors. needed for 2,7,9,10,C and S.; neonatal hemorrhage but normal bleeding time, need to give injection to newborns.
|
|
|
Zinc(function, defiency)
|
essential for 100+ enzymes;delayed wound healing,decreased adult hair,dysgeudia, anosmia.
|
|
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Nitric oxide is made from what amino acid?
|
arginine
|
|
|
Urea is made from what amino acids?
|
arginine and aspartate
|
|
|
Heme is made from what amino acid?
|
glycine and succinyl CoA
|
|
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Creatine is made from what amino acid?
|
glycine + arginine + SAM
|
|
|
GABA is made from what amino acid?
|
glutamate
|
|
|
glutathione is made from what amino acid?
|
glutamate
|
|
|
pyrimidines are made from what amino acids?
|
glutamate and aspartate
|
|
|
purines are made from what amino acids?
|
glutamate + aspartate + glycine
|
|
|
histamine is made from what amino acid?
|
histidine
|
|
|
describe dopamine synthesis by reactants
|
phenylalanine->tyrosine->DOPA->dopamine
|
|
|
describe melatonin synthesis by reactants
|
tryptophan->serotonin->melatonin
|
|
|
niacin is made from what amino acid?
|
tryptophan
|
|
|
thyroxine and melanin are made from what amino acid?
|
tyrosine
|
|
|
what test can be done to diagnose chronic granulomatous disease?
|
blue pigment DOESN'T form after adding nitroblue tetrazolium to patient's neutrophils. Does form = no disease.
|
|
|
Coldaggulintins are seen in what organism. They are responsible for what?
|
M. Pneumoniae. They lyse red blood cells leading to anemia.
|
|
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What are the trinucleotide repeats in Fragile X syndrome?
|
CGG
|
|
|
What are the trinucleotide repeats in Friedreich's Ataxia?
|
GAA
|
|
|
what are the trinucleotide repeats in huntington's disease?
|
CAG
|
|
|
What are the trinucleotide repeats in myotonic dystrophy?
|
CTG
|
|
|
What is the most common leathal,genetic disease in white populations?
|
cystic fibrosis
|
|
|
What are the two 22q11 deletion syndromes?
|
1. DiGeorge - thymic, parathyroid, and cardiac defects. 2. Velocardiofacial syndrome - palate,facial, and cardiac defects.
|
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|
Pyruvate dehydrogenase complex deficiency(physioogy, findings, treatment)
|
X-linked mutation in gene for E1-a-subunit of pyruvate DH, causes backup of pyruvate and alanine, resulting in lactic acidosis; neurologic defects in infant;give Lysine and leucine because they are ketogenically metabolized.
|
|
|
Essential fructosuria(physiology,findings)
|
defect in fructosuria, autosomal recessive;fructose is high in blood and urine but is a benign disease/
|
|
|
fructose intolerance(physiology, findings, treatment)
|
autsomal recessive problem in Aldolase B, F-1-P accumulates, causing decrease in phosphate and then a decrease in glyconeolysis and gluconeogenesis; hypoglycemia, jaundice, cirrhosis; decrease intake of fructose and sucrose.
|
|
|
Galastose deficiency(physiology,treatment)
|
problem in galactokinse, galactitol accumulates if galactose present in diet. autsomal recessive;galactose in blood and urine, infantile cataracts,very mild disease.
|
|
|
Classic galactosemia(physiology, findings, treatment)
|
absense of galactose-1-phosphate uridyltransferase, autsomal recessive, accumulation of toxic galactitol; failure thrive, hepatomegaly, infantile cataracts, mental retardation; exclude galactose and lactose from diet.
|
|
|
Which tissues are at risk for sorbitol damage? how does this damage occur?
|
schwann cells, retina, kidnets. They contain low levels of sorbitol dehydrogenase. sorbitol is osmotically active, causing swelling and damage.
|
|
|
ornithine transcarboxylase deficiency(physiology, findings)
|
x-linked recessive, can't eliminate ammonia. Excess caramoyl phosphate is converted into orotic acid; increased orotic acid in blood and urine, decreased BUN, ammonia overdose.
|
|
|
Phenylketonura(physiology, findings, treatment)
|
Due to decrease in phenylalanine hydroxylase or tetrahydrobiopterin, making tyrosine essential; increased PKU in urine, mental retardation, musty body odor, growth retardation; screen 2-3 days AFTER birth(mom hides condition), decrease phentlyalanine intake and increase tyrosine intake.
|
|
|
Alkaptonuria(symptoms,findings)
|
problem in homogentistic acid oxidase in the tyrosine degrdation pathway, autosomal recessive; dark connective tissue, brown pigmented sclera, urine turns black in air, homogenistic acid eats cartilage -> artraglia.
|
|
|
Albinism(physiology, findings)
|
deficient tyrosinase or defective tyrosinase transporter, can result from lack of neural crest cell migration; lack of tyrosine->lack of melain->no skin color, increased skin cancer common.
|
|
|
Homocystinuria(physiology,findings)
|
3 forms:cystathione synthetase deficiency or decreased affinity for cystathionine synthase for pyridoxial phosphate or homocysteine methyltransferase, all lead to excess homocysteine; increased homocysteine in urine, mental retardation, osteoporosis, tall stature, lens subluxation and atherosclerosis.
|
|
|
Cystinuria(physiology, symptom, treatment)
|
defect in transporter in renal PCT for cysteine, ornithine, lysine, and arginine; excess cysteine in urine causes hexagonal crystals and renal staghorn crystals; good hydration and alkalinize urine.
|
|
|
Maple syrup urine disease(physiology, findings)
|
blocked degradation of Ile, Leu, Val due to deficient a-ketoacid DH; increased ketoacids in blood, causes CNS defects, mental retardation, death.
|
|
|
Hartnup disease (physiology, findings)
|
autosomal-recessive disease, defective neutral amino acid transporter in renal + intestinal cells; causes tryptophan excretion and decreased absorption in gut, leading to pellagra.
|
|
|
What is orotic aciduria(physiology,findings,tx)
|
inability to convert orotic acid to UMP due to defect in UMP synthetase; increased orotic acid in urine,megaloblastic anemia that isn't improved by B12, failure to thrive,no hyperammonemia;oral uridine administration.
|
|
|
What is adenosine deaminase deficiency(give physiology)
|
Excess ATP and dATP via inhibition of ribonucleotide reductase->prevents dna synthesis and decrease lymphocyte count causing SCID.
|
|
|
What is Lesch-Nyan syndrome(physiology,findings)
|
defective purine salvage pathway due to absence of HGPRT; excess uric acid leads to retardation,self-mutilation,hyperuricemia,gout,choresoathetosis.
|
|
|
Mutation in ataxia telangiestica
|
nonhomologous end joining, which repairs dsDNA breaks.
|
|
|
mutaiton in xeroderma pigmentosum
|
nucleotide excision repair, which releases damaged bases
|
|
|
What cell types are permanent
|
neurons, skeletal and cardiac muscle, RBCs
|
|
|
what cells types are stable(quiescent)
|
hepatocytes,lymphocytes
|
|
|
what cell types are labile?
|
bone marrow, gut epithelium,skin,hair follicles,germ cells
|
|
|
I-cell disease(physiology,findings)
|
inclusion cell disease, failure of addition of mannose-6-phosphate to lysosome proteins which leads to lysosomal storage disease(proteins never added to lysosome);coarse face,clouded cornea,high plasma levels of lysosomal enzymes.
|
|
|
Chediak-Higashi syndrome(physiology,findings)
|
mutation in lysosomal trafficking regulator gene (LYST), microtubule sorting does not occur;recurrent pyogenic infections,partial albinism,peripheral neuropathy.
|
|
|
vimentin stains:
|
connective tissue
|
|
|
desmin stains:
|
muscle
|
|
|
cytokeratin stains:
|
epithelial cells
|
|
|
GFAP stains
|
neuroglia
|
|
|
neurofilaments stain
|
neurons
|
|
|
type I collagen(found in,defective in:)
|
bone,skin,tendon,dentin,cornea,late wound repair;defective in osteogenesis imperfecta.
|
|
|
type II collagen(found in)
|
Cartilage(hyaline),vitreous body,nucleus pulposus)
|
|
|
type III collagen(found in, defective in)
|
reticuin,skin,blood vessels,uterus,granulation tissue,fetal tissue;Ehler's danlos
|
|
|
Type IV collagen(found in, defective in)
|
basement membrance and basal lamina;alport sydrome
|
|
|
Marfans syndrome is a defect of:
|
Fibrillin(found in elastin)
|
|
|
Prader-Willi syndrome(genetics,findings)
|
paternal allele on chromosome 15 is not expressed;mental retardation,hyperphagia,obesity,hypogonadism,hypotonia
|
|
|
Angelman's syndrome(genetics,findings)
|
Inactivation of mother's allele on chromosome 15; mental retardation,seizures,ataxia,inappropriate laughter
|
|
|
Achondroplasia(dominance,physiology,findings)
|
Autosomal dominant. defect in fibroblast growth factor(FGF)receptor 3.;Dwarfism,short limbs,larger head but normal trunk.assoc with advanced paternal age.
|
|
|
Autosomal-dominant polycycstic kidney disease(ADPKD)(dominance,physiology,findings)
|
Autosomal dominant;mutation in PKD1, chromosome 16;bilat. massively enlarged kidneys, multiple huge cysts. assoc w/polycystic liver dx,berry anerusyms,mitral valve prolapse.
|
|
|
what diseases are associated with ADPKD?
|
polycystic liver disease, berry aneurysms, mitral valve prolapse.
|
|
|
Familial adenomatous polyposis(dominance,physiology,findings)
|
autosomal dominant;mutation on APC gene. chromosome 5;colon covered in polyps after puberty.
|
|
|
Hereditary hemorrhagic telangiectasia(osler-weber-rendu syndrome)(dominance,physiology,findings)
|
autosomal dominant;inherited disorder of blood vessels;telangiectasia, recurrent epistaxis, AVMS, skin discolorations.
|
|
|
Hereditary spherocytosis(dominance,physiology,findings)
|
autosomal dominance;spheroids due to spectrin or ankyrin defects;hemolytic anemia, increased MCHC, need spleenectomy to cure.
|
|
|
Huntington's disease(dominance,physiology,findings)
|
autosomal dominant;CAG trinucleotide repeat gene on chromosome 4;depression,caudate nucleus atrophy,chorioform movements,decreased levels of GABA and Ach in the brain.
|
|
|
Neurofibromatosis type 1(von recklinghausen disease)(dominance,physiology,findings)
|
autosomal dominant;mutation in long arm of chromosome 17;cafe-au-lait spots,neural tumors,lisch nodules, optic gliomas.
|
|
|
neurofibromatosis type 2(dominance,physiology,findings)
|
autosomal domaint;NF2 gene on chromosome 22;bilateral acoustic schwannomas, juvenile cataracts
|
|
|
Tuberous sclerosis(dominance,findings)
|
autosomal dominant;facial lesions,hypopigmented ash leaf spots,cotical and retinal hamartomas,seizures,cardiac rhabdomyomas,increased incidence of astrocytomas.
|
|
|
von Hippel-Lindau(dominance,physiology,findings)
|
autosomal dominant;deletion of VHL gene(a suppressor) on chromosome 3 which results in constitutive expression of HIF and increased angiogenic factos;hemangioblastomas,bilateral multiple renal cell carcinomas.
|
|
|
Cystic fibrosis(dominance,physiology,findings)
|
autosomal-recessive;defect in CFTR on chromosome 7. CFTR is a calcium channel;meconium ileus in newborns,bronchiectasis,pancreatic insufficiency,nasal polyps,intertility in males due to missing vas deferns.
|
|
|
what lab is diagnostic for cystic fibrosis?
|
increased calcium concentration in sweat (calcium channel can't resorb in skin. Note: in lungs this channel is supposed to EXCRETE calcium).
|
|
|
Fragile-X syndrome(dominance,physiology,findings)
|
X-linked;defect in methylation of FMRI gene,is a CGG trinucleotide repeat;mental retardation,macroorchidism,long face and jaw,everted ears,autism, mitral valve prolapse.
|
|
|
Duchenne's dystrophy(dominance,physiology,findings)
|
X-linked frameshift;deletion of dystrophin gene leads to accelerated muscle breakdown;pseudohypertophy of calf,pelvic and girdle muscle weakness at first,onset before 5, use gowers manuever.
|
|
|
Why do mutaitons in dystrophin gene occur so often?
|
longest gene in the human genome, anchors muscle fibers.
|
|
|
What are the pregancy quad screen results for down syndrome?
|
decrease a-fetoprotein,estirol. increased B-HcG, inhibin A.
|
|
|
What are the pregancy quad screen results for edwards syndrome?
|
decreased: a-fetoprotein,BHcg, estriol. normal: inhibin A.
|
|
|
What are the pregnancy quad screens for Patau's syndrome?
|
decreased: B-HcG, PAPPa and increased:Nuchal translucency.
|
|
|
Cri-du-chat syndrome(dominance,physiology,findings)
|
congenital microdeletion of short arm of chromosome 5;microcephaly,mental retardation,mewing sounds,epicanthal folds,VSD.
|
|
|
Williams syndrome(dominance,physiology,findings)
|
congenital microdeletion of long arm of chromosome 7,region deleted contains elastin gene;elfin facies,intellectual disability,extreme friendliness.
|
|
|
What are the fat soluble vitamins?
|
ADEK. dependent on ileum and pancreas, tend to accumulate in fat more.
|
|
|
vitamin A(function, defiency,excess)
|
visual pigments(retinal),essential for epithielial ceel differentiation,prevents squamous metaplasia, used in measles and AML type M3 tx; night blindness, dry skin;arthralgias,fatigue,alopecia,teratogenic!
|
|
|
Vitamin B1(thiamin)(function, defiency)
|
thiamine pyrophosphotase part of: pyruvate DH,A-ketoglutartate DH,trasketolase,branched-amino acid DH; defiency causes wernicke-korsakoff, berberi, low ATP.
|
|
|
Wernicke-Korsakoff syndrome(cause, findings)
|
B1(thiamin) defienceincy;confusion, opthalmoplegia,ataxia,confabulation,permanent memory loss,damage to medial dorsal nucleus of thalamus, mammary bodies.
|
|
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Dry beriberi(cause, findings)
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low B1(thiamin); polyneuritis, symmetrical muscle wasting
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Wet beriberi(cause,findings)
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high output cardiac failure(dilated cardiomyopathy), edema.
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vitamen B2(riboflavin)(function, defiency)
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cofactor in ox/redux reactions, make FAD and FMN; Cheilosis(inflammation and scaling of lips, corner of mouth), corneal vascularization (2C's of B2)
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vitamin B3(niacin)(function, defiency,excess)
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made from tryptophan, makes NAD. synthesis requires B6!;Glossitis,pellagra(diarrhea,dementia,dermatitis); excess = facial flushing.
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vitamin B3 deficiency can be caused by what primary things?
|
1. hartnup disease (decreased tryptophan absorption) 2.Malignant carcinoid syndrome(increased tryptophan metabolism) 3. INH (decrease B6). All lead to pellagra.
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Vitamin B5(pantothenate)(function, defiency)
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Essential part of CoA and fatty acid synthase; dermatitis,enteritis,alopecia,adrenal insufficiency.
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vitamin B6(pyridoxine)(function, defiency)
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converted to pyridoxal phosphate which transaminates ALT and AST,synthesizes heme,niacin,histamine,serotonin,epinephrine,norepi, GABA.;convulsions,hyperirratability,peripheral neuropathy,sideroblastic anemia due to increased heme production.
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Vitamin B7(biotin)(function, defiency)
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cofactor for carboxylation enyzmes(pyruvate carboxylase,acetyl-Coa carboxylase,Propionyl-CoA carboxylase.;very rare, dermatitis,alopecia,enterisis. can be caused by antibiotic use or raw egg overconsumption.
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Vitamin B9(folic acid)(function, defiency)
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converted to tetrahydrofolate, makes nitrogenous bases for RNA and DNA; small pool in liver, macrocytic,megaloblastic anemia, common in alcoholism and pregnancy.
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vitamin B12(cobalamin)(function, defiency)
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cofactor for homocysteine methytransferase and methylmalonyl-CoA mutase, very large reserve pool in liver that takes years to use; macrocytic,megalobastic anemia, hypersegmented PMNs,neurologic symptons.
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What are the two vitamin defiency causes of macrocytic,megalolastic anemia? Differences?
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B9(folic acid) -> no neurologic symptoms. most common type, very small reserve pool. common in pregnancy and alcoholism. B12(cobalamin)has neuro symptoms. HUGE reserve pool in liver.
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Vitamin C(function, defiency,excess)
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facilitates Fe absorption, needed to make collagen, also needed to convert dopamine to NE; scurvy-swollen gums,brusing,hemearthrosis,weak immune system;nausea,vomitting,sleep problems, increased risk of iron toxicity.
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Vitamin D(function, defiency,excess)
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increased intestinal absorption of calcium and phosphate, increased bone minerlization; Rickets in kids, osteomalacia in adults, hypocalcemic tetany; hypercalcemia,hypercalciuria,loss of appetite, seen in sarcoidosis.
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Vitamin E(function, defiency,excess)
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antioxidant, protects erthrocytes and membranes from free radical damage; increased fragility of erythrocytes, posterior column and spinocerebellar tract demyelination.
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Vitmain K(function, defiency,excess)
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Catalyzes gamma-carboxylation of glutamic acid residues on clotting factors. needed for 2,7,9,10,C and S.; neonatal hemorrhage but normal bleeding time, need to give injection to newborns.
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Zinc(function, defiency)
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essential for 100+ enzymes;delayed wound healing,decreased adult hair,dysgeudia, anosmia.
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Nitric oxide is made from what amino acid?
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arginine
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Urea is made from what amino acids?
|
arginine and aspartate
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Heme is made from what amino acid?
|
glycine and succinyl CoA
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Creatine is made from what amino acid?
|
glycine + arginine + SAM
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GABA is made from what amino acid?
|
glutamate
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glutathione is made from what amino acid?
|
glutamate
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pyrimidines are made from what amino acids?
|
glutamate and aspartate
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purines are made from what amino acids?
|
glutamate + aspartate + glycine
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histamine is made from what amino acid?
|
histidine
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describe dopamine synthesis by reactants
|
phenylalanine->tyrosine->DOPA->dopamine
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describe melatonin synthesis by reactants
|
tryptophan->serotonin->melatonin
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niacin is made from what amino acid?
|
tryptophan
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thyroxine and melanin are made from what amino acid?
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tyrosine
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what test can be done to diagnose chronic granulamtous disease?
|
blue pigment DOESN'T form after adding nitroblue tetrazolium to patient's neutrophils. Does form = no disease.
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What are the trinucleotide repeats in Fragile X syndrome?
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CGG
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What are the trinucleotide repeats in Friedreich's Ataxia?
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GAA
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what are the trinucleotide repeats in huntington's disease?
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CAG
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What are the trinucleotide repeats in myotonic dystrophy?
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CTG
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What is the most common leathal,genetic disease in white populations?
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cystic fibrosis
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What are the two 22q11 deletion syndromes?
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1. DiGeorge - thymic, parathyroid, and cardiac defects. 2. Velocardiofacial syndrome - palate,facial, and cardiac defects.
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Pyruvate dehydrogenase complex deficiency(physioogy, findings, treatment)
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X-linked mutation in gene for E1-a-subunit of pyruvate DH, causes backup of pyruvate and alanine, resulting in lactic acidosis; neurologic defects in infant;give Lysine and leucine because they are ketogenically metabolized.
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Essential fructosuria(physiology,findings)
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defect in fructosuria, autosomal recessive;fructose is high in blood and urine but is a benign disease/
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fructose intolerance(physiology, findings, treatment)
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autsomal recessive problem in Aldolase B, F-1-P accumulates, causing decrease in phosphate and then a decrease in glyconeolysis and gluconeogenesis; hypoglycemia, jaundice, cirrhosis; decrease intake of fructose and sucrose.
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Galastose deficiency(physiology,treatment)
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problem in galactokinse, galactitol accumulates if galactose present in diet. autsomal recessive;galactose in blood and urine, infantile cataracts,very mild disease.
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Classic galactosemia(physiology, findings, treatment)
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absense of galactose-1-phosphate uridyltransferase, autsomal recessive, accumulation of toxic galactitol; failure thrive, hepatomegaly, infantile cataracts, mental retardation; exclude galactose and lactose from diet.
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Which tissues are at risk for sorbitol damage? how does this damage occur?
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schweann cells, retina, kidnets. They contain low levels of sorbitol dehydrogenase. sorbitol is osmotically active, causing swelling and damage.
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ornithine transcarboxylase deficiency(physiology, findings)
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x-linked recessive, can't eliminate ammonia. Excess caramoyl phosphate is converted into orotic acid; increased orotic acid in blood and urine, decreased BUN, ammonia overdose.
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Phenylketonura(physiology, findings, treatment)
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Due to decrease in phenylalanine hydroxylase or tetrahydrobiopterin, making tyrosine essential; increased PKU in urine, mental retardation, musty body odor, growth retardation; screen 2-3 days AFTER birth(mom hides condition), decrease phentlyalanine intake and increase tyrosine intake.
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Alkaptonuria(symptoms,findings)
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problem in homogentistic acid oxidase in the tyrosine degrdation pathway, autosomal recessive; dark connective tissue, brown pigmented sclera, urine turns black in air, homogenistic acid eats cartilage -> artraglia.
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Albinism(physiology, findings)
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deficient tyrosinase or defective tyrosinase transporter, can result from lack of neural crest cell migration; lack of tyrosine->lack of melain->no skin color, increased skin cancer common.
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Homocystinuria(physiology,findings)
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3 forms:cystathione synthetase deficiency or decreased affinity for cystathionine synthase for pyridoxial phosphate or homocysteine methyltransferase, all lead to excess homocysteine; increased homocysteine in urine, mental retardation, osteoporosis, tall stature, lens subluxation and atherosclerosis.
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Cystinuria(physiology, symptom, treatment)
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defect in transporter in renal PCT for cysteine, ornithine, lysine, and arginine; excess cysteine in urine causes hexagonal crystals and renal staghorn crystals; good hydration and alkalinize urine.
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Maple syrup urine disease(physiology, findings)
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blocked degradation of Ile, Leu, Val due to deficient a-ketoacid DH; increased ketoacids in blood, causes CNS defects, mental retardation, death.
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Hartnup disease (physiology, findings)
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autosomal-recessive disease, defective neutral amino acid transporter in renal + intestinal cells; causes tryptophan excretion and decreased absorption in gut, leading to pellagra.
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What is codominance?
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2 seperate alleles contribute to a a phenotype. example: blid type (a and b).
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What is variable espressivity?
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when a phenotype varies among individuals with same same genotype. ex: neurofibromatosis 1.
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what is incomplete penetrance?
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when not all people with a mutant genotype show the mutant genotype. ex: not all people with BRCA1 get breast cancer
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What is pleiotropy?
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Gone gene contributes to multiple phenotypic events
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what is imprinting?
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differences in gene mutations depend on if they are maternal or paternal in origin.
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What is a dominant-negative phenotype?
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whena mutation exerts a dominate effect, like when a heterozygote makes a nonfunctional gene that keeps the normal gene from functioning.
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What is linke disequilibrum?
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Tendency for 2 alleles at 2 linked foci to occur together more often than expected by chance.
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What is a chimeric individual?
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A person derived from 2 fused zygotes
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What is locus heterogeneity?
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mutations at different loci can make the same phenotype. exp: marfans, MEN2B, and homocystinuria all cause Marfan habitus. albinism, too.
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What is heteroplasmy?
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presence of both normal and mutated mtDNA resulting in a variable expression mitochondrial disease.
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What is uniparental disomy?
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offspring recieves 2 copies of a chromosome from 1 parent and none from the other. example: consider UPD when only 1 parent is carrier!
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Hardy weinburg assumes what 4 things:
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1. no mutation, no selection for any genotypes, random mating, no net migration.
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What is the difference between heterodisomy and isodisomy?
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hetero = UPD causes by a meiosis I error. iso = UPD caused by a meiosis II or postzygotic duplication.
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What does red safarin O strain?
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1. cartilage 2. mucin 3. Mast cell granules
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Pagophobia is specific for what nutrient defiecency?
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pagophobia = wanting to chew on ice. It is specific for iron depletion.
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What is Alpha-amantin?
|
poison found in Amanita Phalloides. It blocks DNA-dependent RNA polymerase II, stopping mRNA production. causes diffude hepatic necrosis.
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Hartnup disease leads to what skin condition. Why?
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Pellagra. There is loss of tryptophan, thus niacin can't be made.
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What causes death in iron poisioning?
|
cell death due to peroxidation of membrane lipids, causes bleeding and metabolic acidosis.
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What causes xeroderma pigmentosum?
|
Lack of UV-endonucleases. Can't cut out thymidine dimers.
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What is the difference between histone methylation and acetylation?
|
Methylation = inactivates, no transcription. Acetylation = Active, relaxes DNA coil, transcription is a go.
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What amino acids are encoded by only 1 codon?
|
Methionine (AUG) and Tryptophan (UGG)
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What is the purpose of single-stranded binding proteins?
|
Prevent DNA strands from reannealing
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What are the 3 RNA polymerases in eukaryotes?
|
poly 1 =makes rRNA, poly II = mRNA, poly III = tRNA. None can proofread!
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p53 and hypophosphorylated Rb do what function?
|
inhibit G1->S transition
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What is the function of COP I, COP II, and Clarithin?
|
COP I - retrograde transport and golgi -> er, COPII - anterograde transport and ER -> Golgi, Clathrin - trans-golgi->lysosomes and cell membrane to endosomes.
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What is the function of peroxisome?
|
catabolism of very long fatty acids and amino acids.
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What is associated with Ehler's-Danlos?
|
Joint dislocation, easy bruising, berry aneurysms, organ rupture.
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What is alport syndrome associated with?
|
nephritis, deafness, and ocular disturbances.
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What are southern, nothern, and western blots for?
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SNoW DRoP - south -DNA, North - RNA, West - Protein.
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How does ethanol metabolism lead to inhibited gluconeogenesis and fatty liver?
|
increased NADH/NAD ratio causes diversion of pyruvate to lactate and OAA to malate, stimulating fatt acid synthesis -> steatosis.
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What causes fatty liver in Kwashiorkor?
|
Decreased protein = decreased apolipoprotein. lipids not pushed out of liver = steatosis.
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What are the 3 possible causes of albinism?
|
1. tyrosinase (can't make melanin from tyrosine) 2. defective tyrosine transporter - decreased levels of tyosine, and thus less melanin 3. lack of neural migration of neural crest cells.
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|
Where are many of the B-lactames held in bacteria?
|
In the periplasm, the space between cytoplasmic membrane and outer membrane in G- bacteria.
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An activating mutation in what can lead to gout?
|
5'phosphoriboysl-1-pyrophosphate synthetase (PRPP).
|
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What is the most common cystic fibrosis gene defect?
|
(delta)F508
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What do stop codons code for?
|
releasing factor 1.
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What are the findings in friedrich's ataxia?
|
1. progessive ataxia in all 4 limbs 2. hypertrophic cardiomyopathy 3. kyphosis, pes cavus, hammer toes 4. DM
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what is the difference between dysplasia and carcinoma?
|
dysplasia = reversible. Carcinoma - not reversible.
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what is mult-drug resistance 1 gene?
|
A p-glycoprotein, transmembrane ATP-dependent pump that stops import in and increases pumping out of chemo drugs. MDR1 is upregulated in cancer trying to become resistant to chemo.
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Thiamine deficiency can be diagnosed using what lab?
|
Erthrocyte transketolase.
|
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What is the purpose of iNOS?
|
found in phagolysosomes, used to make reactive nitrogen products that destroy bacterias.
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Can linkage disequilibrium occur with genes in different chromosomes?
|
YES!!!
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|
GLUT transporters have a preference for what type of glucose?
|
D-glucose
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|
What is the shine-delgarno sequence?
|
sequence in mRNA found only in prokaryotes. It finds to the 16s rRNA.
|
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|
Calcification (like in valves and cholesterol plaques) is a hallmark for what cellular process?
|
Necrosis and injury. These make Psammoma bodies. Ca from dead cells is released and collected.
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What is hemosiderin?
|
An accumulation of iron in micelles. Seen in hemolytic anemia.
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Can prokaryotes or eukaryotes have polycistronic mRNA?
|
Prokaryotes do (exp: lac operon) eukaryotes hardly ever have more than one protein encoded into an mRNA.
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|
What is the function of JAK2?
|
It is a non-receptor tyrosine kinase
|
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|
CYP2E1 is zero-order kinetcs for:
|
ETOH, Acetaminophen, INH
|
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In patients with renal or hepatic impairment, does the loading or mateinence dose change?
|
loading is unchanged, maintence must decrease
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