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At which end of the tRNA isthe aa bound?
Can RNA polymerase initiatechains?
Define transition.
Define transversion.
The amino acid is covalentlybound to the 3' end of thetRNA.
Yes.
Substituting purine for purineor pyrimidine for pyrimidine.
Substituting purine forpyrimidine or vice versa.
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Define tRNA wobble.
Describe DNA replication.
Describe DNA replication(continued answer)
Accurate base pairing isrequired only in the first 2nucleotide positions of anmRNA codon, so codonsdiffering in the 3rd 'wobble'position may code for thesame tRNA/amino acid.
Origin of replication: continuous DNAsynthesis on leading strand anddiscontinuous (Okazaki fragments) onlagging strand. Primase makes an RNAprimer on which DNApolymerase caninitiate replication. DNA polymerasereaches primer of preceding fragment;
5'3' exonuclease activity of DNApolymerase I degrades RNA primer;DNA ligase seals;
3'->5' exonuclease activity ofDNA polymerase 'proofreads'each added nucleotide.DNAtopoisomerases create a nickin the helix to relievesupercoils
Less condensed (vs.Describe Euchromatin
Heterochromatin),transcriptionally active
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Condensed, transcriptionally
Describe Heterochromatin
inactive
Describe key structuraldifferences betweennucleotides.
Describe single-strand,excision repair.
Describe the differencebetween Eukaryotic Vs.Bacterial, viral and plasmidorigin of replications
1) Purines (A,G) have 2 rings.2) Pyrimidines (C,T,U) have 1ring 3) Guanine has a ketone.4) Thymine has a methyl
Excision repair-specificglycosylase recognizes andremoves damaged base.Endonuclease makes a breakseveral bases to the 5' side.Exonuclease removes shortstretch of nucleotides. DNApolymerase fills gap. DNA ligaseseals.
Eukaryotic genome hasmultiple origins ofreplication. Bacteria, virusesand plasmids have only oneorigin of replication.
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Describe the main differencein eukaryotic and prokaryoticsynthesis of RNA.
Describe the method bywhich introns are removed
from primary mRNAtranscript.
Describe the number ofbonds per purine-pyrimidinepair. Which is stronger?
Describe the structure ofChromatin.
Eukaryotes have 3 different
RNA polymerases ('I, II, IIIsynthesize RMT') andprokaryotes have 1 RNApolymerase (which makes all3 kinds of RNA).
Introns are precisely spliced outof primary mRNA transcripts. Alariat-shaped intermediate isformed. Small nuclearribonucleoprotein particles(snRNP) facilitate splicing bybinding to primary mRNAtranscripts and formingspliceosomes.
G-C bond (3 H-bonds) A-Tbond (2 H-bonds G-C bond isstronger
Condensed by (-) chargedDNA looped around (+)charged histones(nucleosome bead). H1 tiesthe nucleosome together in astring (30nm fiber)
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Describe tRNA structure.
Does RNA polymerase have aproof reading function?
How do purines andpyrimidines interact,
molecularly?
How does RNA polymerase IIopen DNA?
75-90 nucleotides, cloverleafform, anticodon end is opposite3' aminoacyl end. All tRNAs botheukaryotic and prokaryotic, haveCCA at 3' end along with a highpercentage of chemicallymodified bases. The amino acidis covalently bound to the 3' endof the tRNA.
No.
Purines and pyrimidines pair(A-T, G-C) via H-bonds
RNA polymerase II opens DNAat promoter site (A-T richupstream sequence- TATAandCAAT)
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1) Capping on 5' end (7
How is the original RNA
methyl G) 2)Polyadenylation
transcript processed in
on 3' end ( =200 As) 3)
eukaryotes? (3)
Splicing out of introns
In eukaryotes, what mustoccur before an newlysynthesized RNA transcriptleaves the nucleus?
Only processed RNA istransported out the nucleusof eukaryotes.
Name 3 types of RNA
1) mRNA 2) rRNA 3) tRNA
Name the charged histonesaround which (-) charged
H2A, H2B, H3, H4 histones
DNA loops (nucleosomecore).
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Name the enzyme responsiblefor the synthesis of RNA in
RNA polymeraseprokaryotes.
Name the enzymes involvedin ss-DNA repair. (5)
Name the enzymesresponsible for the synthesisof eukaryotic RNA.
1) specific glycosylase. 2)endonuclease. 3)exonuclease. 4) Danpolymerase. 5) DNA ligase.
RNA polymerase I RNA
polymerase II RNApolymerase III
Exons contain the actualWhat are exons?
genetic information codingfor a protein
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What are four types of
1) Silent 2) Missense 3)
mutations that can occur in
Nonsense 4) Frame shift
DNA?
Introns are intervening
What are introns?
noncoding segments of DNA
What are the four features ofthe Genetic Code?
1) Unambiguous 2)Degenerate 3) Commaless,non-overlapping 4)Universal
What atoms link aa in a
Amino acids are linked N to C
protein chain?
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What changes occur in DNA
In mitosis, DNA condenses to
structure during mitosis?
form mitotic chromosomes
What codon sequence isfound at the 3' end of alltRNAs?
What direction is DNAsynthesized in?
All tRNAs, both eukaryotic
and prokaryotic, have CCA at3' end.
5' > 3'. Remember that the5' of the incoming nucleotidebears the triphosphate(energy source for the bond).The 3' hydroxyl of thenascent chain is the target.
Protein synthesis also
What direction is protein
proceed in the 5' to 3' (5' >
synthesized in?
3')
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What direction is RNAsynthesized in?
What does the AUG mRNAsequence code for?
What does the P in P-sitestand for? What does the A inA-site stand for?
5' > 3'. Remember that the5' of the incoming nucleotidebears the triphosphate(energy source for the bond).The 3' hydroxyl of thenascent chain is the target.
AUG codes for methionin,
which may be removed beforetranslation is completed. Inprokaryotes the initial AUGcodes for a formyl-methionin(f-met).
P-site: peptidyl; A-site:aminoacyl;
What does the statement, 'the
The code is non-overlapping.
genetic code is commaless'
The exception are some
mean? What is the exception
viruses
to this rule?
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What does the statement, 'the
More than one codon may
genetic code is degenerate'
code for the same amino acid
mean?
What does the statement, 'thegenetic code is unambiguous'mean?
What does the statement, 'thegenetic code is universal'mean? What are theexceptions (4)?
What enzyme is responsiblefor 'charging' tRNA? How doesit work?
Each codon specifies only oneamino acid
The same code is used in alllifeforms. The exceptions are1. mitochondria, 2.archaeobacteria, 3.Mycoplasma, 4. some yeasts
Aminoacyl-tRNA synthetase.This enzyme (one per aa, usesATP) scrutinizes aa before andafter it binds to tRNA. Ifincorrect, bond is hydrolyzedby synthetase. The aa-tRNAbond has energy forformation of peptide bond.
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What inhibits RNA polymerase
alpha-amanitin inhibits RNA
II?
polymerase II
What is a conservativemissense mutation?
What is a frameshiftmutation? What is usually theeffect on the encodedprotein?
Mutation results in a differentaa encoded, but that new aais similar in chemical
structure to the original code
A change in DNA resulting inmisreading of all nucleotidesdownstream. Usually resultsin a truncated protein.
Mutation results in a different
What is a missense mutation?
aa encoded.
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A change in DNA resulting in
What is a nonsense mutation?
an early stop codon.
What is a promoter?
What is a silent mutation?What usually causes a silentmutation?
What is a snRNP? What is itsfunction?
Site where RNA polymeraseand multiple othertranscription factors bind toDNA upstream from genelocus.
Mutation results in the sameaa encoded. Often the basechange is in the 3rd positionof the codon
snRNP = small nuclearribonucleoprotein. snRNPsfacilitate splicing by bindingto primary mRNA transcriptsand forming spliceosomes.
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What is an enhancer?
What is an Okazaki fragment?
What is hnRNA?
What is responsible for theaccuracy of amino acidselection during peptidesynthesis?
Stretch of Dan that altersgene expression by bindingtranscription facts. May belocated close to, far from,oreven within (an intron) thegene whose expression itregulates.
The discontinuous DNAsynthesized on the laggingstrand during DNA replication
hnRNA = heterogeneousnuclear RNA The initial RNAtranscript is called hnRNA
Aminoacyl-tRNA synthetaseand binding of charged tRNAto the codon are responsiblefor accuracy of amino acidselection.
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What is the broad
Purines (A, G) and Pyrimidines
classification of nucleotides?
(C, T, U)
(2)What is the differencebetween hnRNA and mRNA?
hnRNA = the initial RNAtranscript mRNA = cappedand tailed transcript
What is the difference
Uracil found in RNA Thymine
between thymine and uracil?
found in DNA
What is the function of DNA
DNA ligase seals synthesized
ligase during DNA
DNA into a continuous strand
Replication?
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What is the function of DNApolymerase during DNAReplication? (2)
What is the function of DNA
topoisomerase during DNAReplication?
What is the function ofprimase in DNA Replication?
5'3' exonuclease activity ofDNA polymerase I degradesRNA primer; 3'5'exonuclease activity of DNApolymerase 'proofreads' eachadded nucleotide.
DNA topoisomerases create a
nick in the helix to relievesupercoils
Primase makes an RNAprimer on which DNApolymerase can initiatereplication.
What is the function of RNA
RNA polymerase I makes
polymerase I?
rRNA
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What is the function of RNA
RNA polymerase II makes
polymerase II?
mRNA
What is the function of RNA
RNA polymerase III makes
polymerase III?
tRNA
What is the mRNA initiation
AUG, or rarely GUG
codon?
What is the mRNA stop
UGA (U Go Away) UAA (U Are
codons? (3)
Away) UAG (U Are Gone)
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A mischarged tRNA (bound to
What is the result of
wrong aa) reads usual codon
'mischarged' tRNA?
but inserts wrong amino acid.
What is the role ofendonuclease in ss-DNArepair?
What is the role of excisionrepair-specific glycosylase inss-DNA repair
Endonuclease makes a breakseveral bases to the 5' side.
Recognizes and removesdamaged base.
What is the role of
Exonuclease removes short
exonuclease in ss-DNA
stretch of nucleotides.
repair?
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If incorrect, the aa-tRNA
What prevents an incorrect
bond is hydrolyzed by
aa-tRNA pairing?
aminoacyl-tRNA synthetase.
What role does histone H1play in chromatin structure?
What supplies the energy forformation of peptide bond?
H1 ties the nucleosometogether in a string (30nmfiber)
The aa-tRNA bond has energyfor formation of peptidebond.
Promoter mutation commonly
What would most likely be the
results in dramatic decrease
result of a mutation of the
in amount of gene
promoter sequence?
transcribed.
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ATP is used in tRNA charging,
When is ATP used in protein
whereas GTP is used in
synthesis? When is GTP used
binding of tRNA ribosome
in protein synthesis?
and for translocations.
When is recombinationinvolved in DNA repair?
If both strands are damaged,repair may proceed viarecombination withundamaged homologouschromosome.
Where does RNA processing
RNA processing occurs in the
occur in eukaryotes?
nucleus.
Which is the largest type of
mRNA (massive)
RNA?
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Which is the most abundant
rRNA (rampant)
type of RNA?
Which is the smallest type of
tRNA (tiny)
RNA?
Which nucleotide position inthe codon has room for'wobble'?
Codons differing in the 3rd'wobble' position may codefor the same tRNA/aminoacid
Electrophorese RNA on a geltransfer to a filter expose
How do you do a Northern
filter to a labeled DNA probe
Blot?
visualize the DNA probeannealed to the desired RNA
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How do you do a SouthernBlot?
How do you do aSouthwestern blot?
How do you do a WesternBlot?
How do you do PCR? (4 steps)
Electrophorese DNA on a geltransfer to a filter anddenature the DNA expose toa labeled DNA probevisualize probe annealed todesiredDNA fragment
Separate protein byelectrophoresis transfer to afilter expose to a labeled DNAprobe visualize DNA bound todesired protein
Separate protein byelectrophoresis transfer to afilter expose to a labeledantibody visualize Ab boundto desired protein
1. Heat DNA to denature. 2.Cool DNA and let the primersaneal. 3. Heat-stablepolymerase replicates DNAfollowing each premer 4.Repeat
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What are some geneticdiseases detectable by PCR?(11)
SCID, Lesh-Nyhan, CF,
familial hypercholesterolemiaretinoblastoma, sickle cell, B-thalassemia, hemophilia Aand B, von Willebrand's dz,lysosomal dz, and glycogenstroage dz
What gene is involved in
CFTR
cystic fibrosis?
What gene is involved infamilial
LDL-Rhypercholesterolemia?
What gene is involved in
HGPRT
Lesh-Nyhan syndrome?
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What gene is involved in
Rb
retinoblastoma
What gene is involved inSCID?
What gene is involved inSickle cell and ?-thal?
What is an ELISA (enzymelinke immunosorbant assay)?
adenosine deaminase
? globin gene
Rapid lab test in which anantibody or an antigen(usually collected from apatient) is exposed to an Agor Ab liked to to an enzyme.A positive test results in aAg-Ab match and is usuallyindicated by a color change
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Lab procedure used toWhat is PCR?
synthsize many copies of adesired fragment of DNA
Von Geirke's disease is a
result of?
A build up of sphingomyelinand cholesterol inreticuloendothelial andparenchymal cells and tissuesis found in what disease
A child is born with multiplefractures and blue sclera whatis the diagnosis
Glucose-6-phosphatasedeficiency; also known asType I Glycogen Storagedisease
Niemann-Pick disease
Osteogenesisimperfecta;disease ofabnormal collagen synthesisresulting in fractures andtranslucent Conn tiss overchorioid causing the bluesclera
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A congenital deficiency of
tyrosinase would lead to
A patient presents withcataracts,hepatosplenomegaly, andmental retardation, what isthe Dx?
A patient presents withcorneal clouding and mentalretardation that is, based onfamily history, inherited in anAutsomal recessive pattern,you impress your intern witha Dx of
A patient presents with 1.Hyperextensible skin 2.Tendency to bleed 3.Hypermobile joints youastutely Dx them with
Albinism, can't synthesizemelanin from tyrosine
Galactosemia
Hurler's syndrome
Ehlers-Danlos syndrome
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Absence ofGalactosylceramide Beta-galactosidase leads tothebuild up of whatcompound in what disease
Absence of hexosaminidase Aresults in the acumulation of
what molecule that ischaracteristic of what disease
accumulation ofgalactocerebroside in thebrain; Krabbe's disease
GM2-gangliosideaccumulation; Tay-Sachsdisease
albinism increase risk of
skin cancer
developing what
Autosomal dominant defectswill effect what members of a
male and femalefamily
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Autosomal recessivedisorders often result in what
enzyme deficiencieskind of defect/deficiencie?
Autosomal recessivedisorders usually effect how
usually only one generationmany generations in a family?
Bloom's syndrome is
sensitivity to radiation as a
characterized by sensitivity to
result of a DNA repair defect
what as a result of
Creatine and Urea are both
Arginine
made from?
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Defects in structural genesoften follow what pattern of
Autosomal dominantinheritance?
Defiency of arylsulfatase A
results in the accumulation ofwhat molecule where
define genetic imprinting
sulfatide in the brain, kidney,liver, and peripherla nerves.Characteristic ofMetachromaticLeukodystrophy
when differences inphenotype depend onwhether the mutation is ofpaternal or maternal origin
when not all individuals withdefine incomplete penetrance
a mutant genotype show themutant phenotype
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define Linkage Disequilibrium
define pleiotropy
Define variable expression
Fanconi's anemia is caused bywhat typr of agents
the tendency for certainalleles at two linked loci tooccur together more oftenthatn expected by chance, asmeasured in a population
one gene has more than oneeffect on an individual'sphenotype, autosomaldominant defects are oftnepleiotropic
nature and severity of thephenotype varies from oneindividual to another
cross-linking agents
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Ganglioside is made up of
Ceramide + oligosacharide +
what
sialic acid
Gaucher's disease is causedby a deficiency of
Glucocerebrosideaccumulation in the brain,liver, spleen, and bonemarrow are characteristic of
Hglycine is used to make
what important compound
Beta-glucocerebrosidase
Gaucher's disease
Porphyrin which is then usedto make Heme
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Histamine is synthesized
Histidine
form what compound
How does adenosinedeaminase defiency causeSCID
How is Lesch-Nyhansyndrome inheritied andwhatis the result and symptoms
Purine salvage pathway. ADAnormal converts adenosine to
inosine without it ATP &dATP build up inhibitingribonucleotide reductasewhich prevents DNAsynthesis loweringlymphocyte production
X-linked recessive; increasein uric acid production.Retardation, self mutalation,aggression, hyperuricemia,gout, and choreathetosis
Hunter's syndrome is
deficiency of iduronate
characterised by what
sulfatase; X-linked recessive
biochemical problem and how
mild form of Hurler's
is it inherited
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In ataxia-telangiectasia DNAdamage caused by what
X-rayssource cannot be repaired
in G6PD deficiency thedecrease in NADPH can lead
to _____ if exposed to _____
In PKU what builds up andwhat can be found in theurine
hemolytic anemia;oxidizingagents( fava beans,sulfonamides, primaquine)and antituberculosis.
phenyalanine builds upeleading to phenylketones inthe urine
In PKU, what amino acid
tyrosine.
becomes essential
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in the Hardy-Weinberg
p and q are each separate
equation, what are the p and
alleles; 2pq = heterozygote
q and what is 2pq
no male to male transmissionis characteristic of what type
X-linked recessiveof genetic disorders?
Pompe's disease is caused by lysosomal alpha-1,4adefect in?
glucosidase defiency
Sickle cell anemia is caused
AR single missense mutationby what defect and what is
in the beta globin; 1:400it's prevalence
blacks
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recurrent painful crisis and
Siclkle cell anemia patients
increased susceptibility to
often present with
infections
Skin sensitivity to UV lightsecondary to a DNA repairdefect is characteristic ofwhat?
xeroderma pigmentosum
Sphingosine + fatty acid
ceramide
yields
the COL1A gene mutation is
Osteogenesis
associated with what disease
imperfecta;dominant negitive
and what type of mutation is
mutation
this
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The main defect in Ataxiatelangiectasiis a ___
The most common form ofOsteogenesis imperfecta haswhat genetic problem andinheritance
the transporter for whatamino acids is defective incystinuria
Thymidine dimers are formedby exposure of DNA to UVlight, are the dimers formedon the opposing strands of aDNA molecule or on the sameside?
DNA repair defect
abnormal Collagen Type Isynthesis;Autosomaldominant
COLA: Cys,Ornithine, Lysineand Arginine
dimers are on same side
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Tryptophan can be used to
Niacin, 'Serotonin, melatonin
make what three chemicals
Type III Glycogen storagedisease is a defiency of ?
What is the cause Tx andsymptoms of Lactaseintolerance?
deficiency of debranchingenzyme alpha-1,6glucosidase
Lactase defiency, avoid diaryproducts or add lactse pills todiet symptoms bloating,cramps, osmotic diarrhea
none, mitochondrialWhat % of kids born to father
myopathies are inheritedwith mitochondrial myopathie
from mitochondria which iswill be effected
only inherited from themother
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What are the clinical signs of
optic atrophy, spasticity, early
Krabbe's disease
death
What are the components ofCerebroside
What are the components ofSphingomyelin
What are the components ofsphingosine
Ceramide + glucose/galactose
Ceramide +phosphorylcholine
serine + palmitate
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What are the findings and
neurologic defects; increase
treatment of pyruvate
intake of ketogenic nutrients
dehydrogenase
What are the findings inMcArdles's disease and whatis the problem
What are the findings in PKUand what is the treatment
What are the findings inPompe's disease and what isit alternate name
increased glycogen in skeletalmuscle due to a Glycogenphosphorylase defiencystrenuous exercise causemyoglobinuria and painfulcramps
Mental retardation, fair skin,eczema, musty body odor Tx.Decreasee phenylalanin(nutrasweet) and increasetyrosine
Cardiomegaly and systemicfindings, leading to earlydeath. Pompe's trashes thePump. (Heart, Liver andmuscle) Type II Glycogenstoragedisease
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severe fasting hypoglycemia,
What are the findings in Von
increased glycogen in the
Gierke's disease
liver
What are the fourassumptions of the Hardy-Weinberg equilibrium
1.There is no mutationoccuring at the locus 2. Thereis no selection for any of thegeno types at the locus 3.
Random mating 4. nomigration in or out
What are the purely ketogneic
lysine and leucine
amino acids
What are the signs and
asymptomatic, benign,
symptoms of essential
Fructose appears in blood
fructosuria
and urine
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what are the signs andsymptoms of Homocystinuria
What are the symptoms ofAlkaptonuria
Homocysteine accumulates inurine and cystine becomesessential Methionine and it'smetabolites build up in bloodMental retardation,osteoporosis, dislocation ofthe lens
Dark Urine from alkaptonbodies; also connective tissueis dark, may have arthralgias.Bengin disease
What are the symptoms of
hypoglycmeia, jaundice,
Fructose intolerance
cirrhosis
CNS defects, mental
What are the symptoms of
retardation and death. Urine
Maple syrup Urine disease
smells like maple syrup
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tyrosine, thyroxine Dopa
What biological chemicals are
dopamine NE, Epinephrine
derived form phenylalanine
and Melanin
What causes Essential
defect in fructokinase
Fructosuria
What causes Lesch-Nyhansyndrome
Absence of HGPRTase,(normally convertshypoxanthine to IMP andguanine to GMP) LacksNucleotide Salvage (LNS)purines
What do melanin and
both derived directly from
Norepinephrine have in
dopamine Phenylalanine to
common
tyrosine to Dopa to Dopamin
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What does the term 'loss ofheterozygosity' mean
What enzyme defiencies areassociated with hemolytic
anemia
What event in embryology cancause albinism
What genetic error can causeSevere CombinedImmnuodeficiency (SCID)?
when one allele of an allele pair islost. An example is when apatient inherits or develops amutation in a tumor suppressorgene and the complimentaryallele is then lost to deletion/mutation. The patient would notdevelop the cancer until the lossof the normal allele.
Glycolytic enzymedeficiencies 1. Hexokinase2.glucose-phosphateisomerase 3.aldolase4.triose-phosphate isomerase5. phosphate-glyceratekinase enolase pyruvatekinase
lack of migration of neuralcrest cells to skin (formmelanocytes)
Adenosine deaminasedeficiency
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what group of people can be
alcoholics due to B1
seen with pyruvate
defiecincy
dehydrognease deficiency
What is a complication of
cystine kidney stones
cystinuria
What is a dominant negitivemutation?
a mutation that exerts adominant effect because thebody cannot produce enoughof the normal gene productwith only one allelefunctioning normally
What is a good pnuemonic for
Very-Von Gierke's Poor-
the four glycogen storage
Pompes Carbohydrate-Cori's
diseases
Metabolism-McArdles
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What is commonly associatedwith xeroderma pigementosa?
What is crucail to thediagnosis of an Autosomaldominant disease?
What is genetic anticipation?
What is inheritance of G6PDdfiency and what populationis effected more often
dry skin, melanoma and othercancers
Family history
the severity of the diseasworsens or age of onset ofdisease is earlier insucceeding generations
X-linked recessive; blacks
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What is NAD/NADP made
Niacin, 'Serotonin, melatonin
form
What is osteogenesisimperfecta often confused
child abusewith
What is the biochemicaldefect in Metachromaticleukodystrophy and what isthe inheritance pattern
deficiency of arylsulfatase A;Autosomal recessive
What is the biochemical
deficiency of Beta-
defect in Nieman-Pick
glucocerebrosidase;
disease and how is it
autosomal recessive
inherited
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What is the biochemical effectof G6PD defiency
What is the cause ofCystinuria and what are the
signs/symptoms
What is the cause of Fabry'sdisease and what is thecommon clinical problem
decrease in NADPH which isnecessary to reduceglutathione which in turndetoxifies free radicals andperoxides
inheritied defect o the tubularamino acid transporter forCystine, ornithine, Lysine andArginine in kidneys excesscystine in urine
Alpha-galactosidase Adeficiency; givesaccumulation of ceramidetrihexoside causing renalfailure
Absence of galactose-1Whatis the cause of
phosphate uridyltransferase;galactosemia?
accumualtion of toxicsubstances (galactitol)
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Alpha-L-iduronidase defiency
What is the characteristic
leads to corneal clouding and
defect in Hurler's syndrome
mental retardation
What is the characteristicfindings in Neurofibromatosis
What is the clinical picture ofa patient with cystic fibrosis
Multiple caf-au-lait spots,neurofibromas increasedtumor susceptibilty
pulmonary infections,exocrine pancreaticinsufficiency, infertility inmen
What is the clinical picture of
muscular weakness and
Duchenne's muscular
degeneration
dystrophy
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decreased Alpha-ketoacidWhat is the defect in Maple
dehydrogenase. blocksSyrup Urine disease
degradation of branched
amino acids Ile. Val. Leu
What is the epidemiology of Age-dependnet and/orlactose intolerance
hereditary (blacks and Asians)
What is the etiology ofHomocystinuria
defect in cystathioninesynthase. Two forms: 1.deficiency 2. decreased
affinity of synthase forpyridoxal phosphate(cofactor)
What is the finding of
mild mental retardation but
Hunter's syndrome on
no corneal clouding
H&P
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What is the formula for
p^2 +2pq + q^2 =1 and pHardy-Weinberg equilibrium?
+q=1
What is the genetic mech. Of
AR; multiple loss-of-functionCystic fibrosis and it's
mutations in a chlorideinheritance
channel
What is the genetic
X-linked recessive;caused bymechanism of Duchenne's
multiple loss-of-funtionmuscular dystrophy
mutations in a muscle protein
X-linked; progressiveexpansion of unstable DNA
What is the genetic
causes failure to express
mechanism of Fragile X MR
gene-encoding RNA-bindingprotein
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what is the genetic
AD, multiple loss-of function
mechanism of
mutations in a signaling
Neurofibromatosis
molecule
What is the genetic problem
trisomy 21 chromosomal
in Down's Syndrome
imbalance
What is the inheritance of
Autosomal recessive
Krabbe's disease
Autosomal recessive; 1:30 in
what is the inheritance
Jews of European descent and
pattern and carrier frequency
1:300 in the generalin Tay-Sach's
populaition
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What is the inheritancepattern of Ehlers-Danlossyndrome
What is the inheritancepattern of Gaucher's disease
What is the inheritancepattern of xerodermapigmentosa
What is the inheritiancepattern of Fabry's disease
10 types of this syndromeType IV-Auto Dominant TypeVI-Auto Recessive Type IX-X-linked recessive
Autosomal recessive
autosomal recessive
X-linked recessive
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Heinz Bodies: altered
What is the lab symptoms of
hemoglobin precipitate in
G6PD defiency
RBC
What is the mostdistinguishing finding in TaySach'sdisease on Physicalexam
What is the pathogneumoniccell type founde in Gaucher'sdisease
cherry red Macula; thesepatients die by 3
Gaucher's cells with thecharacteristic 'crinkled paper'appearance of enlargedcytoplasm
What is the pattern ofinheritance of Leber's
mitochondrial inheritance
hereditary optic neuropathy?
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increased susceptibility to
What is the phenotype in
fractures;connective tissue
Osteogenesis imperfecta
fragility
What is the phenotype ofDown's syndrome
What is the phenotype ofFragile X
Mental and growthretardation, dysmorphicfeatures, internal organanomalies especially heartproblems
mental retardation,characteristic facial features,large testes
What is the predominantproblem in Ehlers-Danlos
Faulty collagen synthesissyndrome
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What is the prevalance of
1:2000 whites; very rare
cystic fibrosis
among Asians
What is the prevalandce of
1:3000 with 50% being new
Neurofibromatosis
mutations
What is the prevalence of
1:800; increased risk with
Down's syndrome and what
advanced maternal age
are the risk factors
What is the prevalence of
1:300; 33% new mutations
Duchenne's musc. dys.
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What is the prevalence ofFragile X- associated mentalretardation
What is the prevalence of
osteogenesis imperfecta
What is the prevalence ofPhenylketonuria
What is the priamry defect inFructose intolerance and howis it inherited?
1:1500 males: can be infeamales is a multi-stepprocess
1:10000,
1:10000
defiency of aldolase B,autosomal recessive
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congenital defiency ofWhat is the primary defect in
homogentisic acid oxidase inAlkaptonuria
the degradative pathway oftyrosine
What is the primary defect(s)found in Phenylketoneuria
What is the rate-limitingenzyme in the Hexose-Monophosphate shunt?
either 1.decreased
phenylalanie hydroxylase or2. decreasedtetrahydrobiopterin cofactor
Glucose-6-phosphatedehydrogenase
backup of substrate (pyruvate
What is the result of pyruvate
and alanine) resulting in lactic
dehydrognease deficiency
acidosis
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defective excision repair suchWhat is the specific defect in
as uvr ABC exonuclease; haveXeroderma pigmentosa
inability to repair thymidinedimer formed by UV light
What is the treament ofCystinuria and what is apossible consequence of nottreating
What is the treatment offructose intolerance?
What is the treatment ofHomocystinuria
Acetazolide to alkinlize the
urine cystine kidney stonesdue to excess cysteine
decrease intake of bothfructose and sucrose (glucose+ fructose)
1. For a defiency incystathionine synthase tx bydecrease Met and increaseCys in diet 2. for decreasedaffinity of synthase Tx bydecrease vitamin B6 in diet
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Exclude galactose and lactose
What is the Tx of
(galactose +glucose) form
galactosemia?
diet
what offspring of femalesaffected with a mitochondrialinherited disease will beeffected?
what percent of offspringfrom two autosomal recessivecarrier parents will beeffected?
all offspring can be effected
25%
what percent of sons of aheterazygous mother carrying
50%
an x-linked disease will beeffected?
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What period of life do
often present clinically after
autosomal dominant defects
puberty
present in?
What three phenyl ketones
phenylacetate, phenyllactate,
build up in the urine of PKU
phenylpyruvate
patients
What to thyroxine and Dopa
both derived form tyrosine
have in common
What type of genetic error isusually more severe
AR disorders are often moreautosomal recessive or
severedominant?
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What type of inheritance istransmitted only through
mitochondrialmothers?
When do patients usually
present with autosomal
present in childhoodrecessive disorders?
Why are RBC so susceptible toGlycolytic enzyme def.
Why do people with fructoseintolerance becomehypoglycemic?
RBC's metabolize glucoseanaerobically (nomitochondria) and dependson glycolysis
deficent aldolase B causes theaccumulation of Fructose 1phosphatewhich acts as aphosphate sink and traps thephosphate. Decreasedphosphate availability inhibitsglycogenolysis andgluconeogenesis
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X-linked recessive disease is
males
aften more severe in
2,3-BPG via
1,3-BPG
bisphosphoglycerate mutase
Acyl
coenzyme A, lipoamide
aldehydes
TPP
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prostaglandins, -
Arachidonate
thromboxanes, -leukotrienes
Associate the following signal
j
molecule precursors.
At body pH, what AA are
Arg and Lys His is neutral at
negatively charged?
pH 7.4
At body pH, what AA are
Asp and Glu
positvely charged?
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ATP
cAMP via adenylate cyclase
By what rxn order kineticsdoes alcohol dehydrogenase
zero order kineticsoperate?
CH(3) groups
SAM
Choline
CDP-choline
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Choline
CO(2)
Contrast glucagon andinsulin.
Contrast hexokinase andglucokinase.
ACh via choline
acetyltransferase
biotin
glucagon phosphorylatesstuff, -turns glycogensynthase off andphosphorylase on
hexokinase throughout thebody, -GK in liver and haslower affinity but highercapacity for glucose
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Contrast hexokinase andglucokinase.
Does insulin affect glucoseuptake of brain, RBC's andliver?
Does insulin inhibit glucagonrelease by alpha cells ofpancreas?
electrons
only HK is feedback inhibitedby G6P
No
yes
NADH, NADPH, FADH(2)
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Fructose-6-phosphate
Glucose
glutamate
GTP
fructose-1,6-bis-P via PFK(rate limiting step ofglycolysis)
UDP-Glucose
GABA via glutamatedecarboxylase (requires vit.B6)
cGMP via guanylate cyclase
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How are ketone bodiesexcreted?
How are ketone bodiesformed?
How do the statin drugswork?
How does disulfiram work?
in urine
FA and AA converted toacetoacetate and bhydroxybutyrate
they inhibit HMG-CoAreductase
inhibits acetylaldehydedehydrogenase
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How does FA enter thecytosol?
How does FA enter themitochondria?
How does lead affect hemesynthesis?
How does the brainmetabolize ketone bodies?
via citrate shuttle
via the carnitine shuttle
inhibits ALA dehydratase andferrochelatase preventsincorporation of Fe
to 2 molecules of acetyl coA
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How is bilirubin removedfrom the body?
How is ethanol metabolized?
How is FA entering themitochondria inhibited?
How is glutamate convertedto a-ketogluturate
collected by liver, conjugatedwith glucuronate excreted inbile
ethanol oxidized toacetylaldehyde by alcoholdehyd and NAD+acetalaldehyde ox to acetateby acetylaldehyde and NAD+
by cytoplasmic malonyl-CoA
By the loss of amonium andreduction of NADP
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How is glutamine convertedto glutamate?
How is heme catabolized?
How is LDL uptakeundergone?
How is most plasmacholesterol esterfied?
By the loss of amonium
scavenged from RBC's and Fe+2 is reused
by target cells throughreceptor-mediatedendocytosis
LCAT(lecethin-cholesterolacyltransferase)
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How is NAD+ generally usedmetabolically?
How is NADPH generally usedmetabolically?
How is TCA regulated?
How many ATP's per acetylCoA?
catabolic processes
anabolic processes (steroidand FA synthesis), repiratoryburst, P-450
by need for ATP and supply ofNAD+
12
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How many ATP equivalantsare needed to generate
6glucose from pyruvate?
How many enzyme activitiesdoes pyruvate dehydrognase
3possess
How many moles of ATP aregenerated aerobically through
36 ATPG3P shuttle?
How many moles of ATP aregenerated aerobically through
38 ATPmalate shuttle?
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How many moles of ATP aregenerated anaerobically?
In what tissue does hemesynthesis occur (2)?
Insulin mneumonic
Is Serum C peptide presentwith exogenous insulinintake?
2 ATP
liver and bone marrow
insulin moves glucose intocells
No
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Kwashikor results from a
Malabsorption, Edema,
protein deficient MEAL
Anemia, Liver (fatty)
(mneumonic)
Mnemonic forgluconeogenesis irreversibleenzymes?
Pathway Produces FreshGlucose
Mnemonic for SAM.
SAM the methyl donor man
Name 6 common products of
glucose, lactate, Acetyl CoA
pyruvate metabolism?
+CO2, OAA, Alanine
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Name the activated carrierswith associated moleclues
tetrahydrofolates(one carbon units).
phosphoryl
ATP
T/F. Uncouplers stop ATP
FALSE
production?
Underproduction of heme
microcytic hypochromiccauses what anemia?
anemia
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What are the cofactors of
pyrophosphate, lipoic acid,
pyruvate dehydrogenase (5)?
CoA, FAD and NAD
What are the components of a
TG, FFA and apo E
cholymicron remnant?
What are the components of a
TG, apo C-II, apo E, B-48,
cholymicron?
apo A
What are the components of
less TG, CE, B-100 and E
IDL?
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What are the components of
CE and B-100
LDL?
What are the components ofVLDL?
What are the degradationproduct steps (3)?
What are the effectorhormones of cholesterolsynthesis?
TG, Cholesterol ester, B-100,CII and E
heme to biliverdin to bilirubin
insulin increases, glucagondecreases
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What are the effector
decreased glucagon and
hormones of glyc and pyr ox?
increased insulin
What are the effector
insulin decreases, epi and
hormones of glycogenolysis?
glucagon increases
What are the effector
insulin increases, glucagon
hormones of lipogenesis (2)?
decreases
What are the electron
rotenone, antimycin A, CN-,
transport chain inhibitors?
CO
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What are the essentialglucogenic/ketogenic AA?
What are the essentialgluconeogenic AA?
What are the essentialketogenic AA?
What are the irreversibleenzymes of gluconeogenesis(4)?
Ile, Phe, Try
Met, Thr, Val, Arg, His
Leu and Lys
-pyruvate carboxylase, -PEPcarboxykinase,-fructose-1,6bisphosphotase,-glu-6phosphotase
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-glucokinase/hexokinase,
What are the irreversible
PFK,-pyruvate kinase,
enzymes of glycolysis (4)?
pyruvate dehdrogenase
What are the main substrates
-glucose, -lipoprotein
used by adipose tissue (2)?
triacylglycerol
What are the main substratesused by brain?
-glucose, -aa and ketonebodies when starved, polyunsatFA in neonates
FFA, -some glucose, -lactate,
What are the main substrates
-ketone bodies, VLDL and
used by heart?
cholymicrom triacylglycerol
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What are the main substrates
FFA, -glucose, -lactate,
used by liver?
glycerol, fructose, -AA
What are the major activatorsof gluconeogenesis?
What are the major activatorsof glycolysis and pyruvateoxidation?
Acetyl CoA for pyruvatecarboxylase and cAMP for PEPcarboxykinase and F-1,6bis-P
AMP, fructose2,6-bis-P,fructose 1,6-bis-P in muscle,CoA, NAD, ADP and pyruvate
What are the major metabolic
- esterfication of FA's -
pathways of the adipose
lipolysis
tissue (2)?
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What are the major metabolic
-glycolysis,-aa metabolism
pathways of the brain (2)?
What are the major metabolic
Aerobic pathways like B
pathways of the heart?
oxidation and TCA cycle
What are the major products
-FFA, -glycerol
of the adipose tissue (2)?
What are the major products
lactate
of the brain?
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glucose,-VLDL,-HDL,-ketone
What are the major products
bodies,-urea,-uric acid, -bile
of the liver (10)?
acids, -plasma proteins
What are the major regulatoryenzymes of gluconeogenesis(3)?
What are the major regulatoryenzymes of glycolysis andpyruvate oxidation?
pyruvate carboxylase, PEPcarboxykinase and F-1,6bis-P
PFK and pyruvatedehydrogenase
What are the major regulatoryenzymes of cholesterol
HMG-CoA reductasesynthesis?
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What are the products of theliver in the fasting state?
What are the products of theliver in the fed state?
What are the products of theTCA cycle?
What are the some causes ofhyperbilirubinemia (4)?
glucose and ketone bodies
glycogen and fats/VLDL
3NADH, 1FADH2, 2CO2,1GTP per Acetyl CoA
massive hemolysis, -block incatabolism, -diplaced frombinding sites on albumin,decreased excretion
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conjugated (direct/What are the sources of
glucuronidated) andhyperbilirubinemia (2)?
unconjugated(indirect/
insoluble)
What are the specialist
-lipoprotein lipase, and wellenzymes of muscle (2)?
developed resp chain
What are the specialist
-lipoprotein lipase,-hormone
enzymes of the adipose
sensitive lipase
tissue (2)?
-lipoprotein lipase,
What are the specialist
respiratory chain well-
enzymes of the heart (2)?
developed
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What are the specialistenzymes of the liver?
What are the three sites in theelectron transport chain for
active proton transfer?
-glucokinase,-glu-6phosphotase,-glycerolkinase, -PEP carboxykinase, fructokinase,-arginase,-HMGcoA synthase and lyase, -7ahydroxylase
NADH dehydrogenase, Cyt b/c1, and cytochrome oxidaseaa3
What can occur as an excess
pancreatitis, lipemia retinalis
of cholymicrons (3)?
and eruptive xanthomas
What can occur as an excess
pancreatitis
of VLDL?
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What catalyzes cholymicronto cholymicron remnant?
What catalyzes IDL to LDL?
What catalyzes VLDL to IDL?
What causes a hangover?
lipoprotein lipase
hepatic TG lipase
lipoprotein lipase
acetylaldehyde accumulates
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What color is bilirubin andwhat is the condition ofexcess?
What complex is pyruvatedehydrogenase similar to?
What do LT c4, D4 and E4 do(4)?
What does breath smell likeduring ketoacidosis?
yellow, jaundice
a-ketogluturatedehydrogenase complex
bronchconstriction,vasoconstriction, contractsmooth muscle, increasevascular permeability
fruity(acetone)
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What does excess LDL cause
atherosclerosis, xanthomas,
(3)?
and arcus corneae
What does oligomycin do toETC?
ATPase inhibitor thatincreases proton gradient butnot ATP production
What does PGI stand for?
platelet gathering inhibitor
thromboxanes,
What does the COX pathway
prostaglandins and
yield?
prostacyclin
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What does the lipooxygenasepathway yield?
What does this stand for?
What enzyme catalyzes therate limiting step ofcholesterol syn.?
What induces the PPP?
leukotrienes
Ornithine, citrulline,carbamoyl-p, aspartate,arginosuccinate, fumurate,arginine, urea
HMG-CoA reductase
insulin
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What is a major component ofatherosclerotic plaque?
What is an uncoupling agentto the ETC?
What is cofactor required formethionine (SAM)regeneration?
What is does PGI 2 inhibit (2)?
modified LDL
2,4 DNP (dynamite)
vitamin B12
platelet aggregation andvasodilation
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What is familial hypercholesteremia?
What is Kwashikor?
What is LT B4?
What is Marasmus?
AD genetic defect in LDLreceptor
protein malnutrition
neutrophil chemotactic agent
Protein-calorie malnutritionresulting in tissue wasting
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What is the activator oflipogenesis?
What is the activator of PPP?
What is the clinical picture ofKwashikor?
What is the committed step ofheme synthesis?
Citrate
NADP+
small child with swollen belly
glycine+succ CoA to deltaaminolevulinate
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What is the composition ofATP?
What is the consequence ofaccumulated intermediates ofheme synthesis?
What is the easy way toremember the cofactors ofPDH complex?
What is the effector hormonefor glycogenesis?
Base(adenine), ribose, 3phosphoryls
porphyrias
First 4 B vitamins + lipoicacid
Glucagon
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What is the energy content ofthe 2 phosphoanhydride
7 kcal/mol eachbonds?
What is the functiion of HDL(2)?
transfers cholesterol fromperiphery to liver acts as arepository for apoC and apoE
What is the functioin of
FA uptake to cells from
lipoprotein lipase?
choly's and VLDL's
What is the function of
rate limiting step of heme
aminolevulinate (ALA)
synthesis converts succinyl
synthase ?
CoA and glycine to ALA
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delivers dietary TG to
What is the function of
peripheral tissues delivers
cholymicrons (2)?
dietary cholesterol to liver
What is the function of
degradation of stored TG's
hormone sensitive lipase?
delivers hepatic cholesterol to
What is the function of LDL?
peripheral tissues
What is the function of
liberates arachidonic acid
phospholipase A2?
from cell membrane
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-produces ribose-5-P fromWhat is the function of PPP
G6P for nucleotide(3)?
synthsesis,-producesNADPH,-part of HMP shunt
transfers methyl units to wide
What is the function of SAM?
variety of receptors
What is the function of theCori Cycle?
transfers excess reducingequivalants from RBC's andmuscle to liver to allow
muscle to functionanaerobically
What is the function of Tx A2
platelet aggregation and
(2)?
vasoconstriction
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What is the function of VLDL?
What is the inhibitor oflipogenesis (2)?
What is the inhibitor of PPP?
What is the limiting reagentof ethanol metabolism?
Delivers hepatic TG toperipheral tisssue
long-chain acyl-CoA, -cAMP
NADPH
NAD+
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What is the main substrate of
glucose
fast twitch muscle?
What is the main substrate of
ketone bodies, -FFA,
slow twitch muscle?
triacylglycerol
What is the major function of
rapid movement
fast twitch muscle?
What is the major function of
sustained movement
slow twitch muscle?
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What is the major function of
increase vascular smooth
the a1 receptor?
muscle contraction
What is the major function ofthe a2 receptor (2)?
What is the major function ofthe B1 receptor (5)?
-decrease sympatheticoutflow, -decrease insulin
release
increase HR, -inc.conntractility, -inc. reninrelease,-inc. lipolysis, -inc.aq. Humor formation
What is the major function of
vasodilation, bronchodilation,
the B2 receptor (3)?
inc. glucagon release
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What is the major function of
relax renal vascular smooth
the D1 receptor?
muscle
What is the major function of
modulate transmitter release,
the D2 receptor?
esp. in brain
What is the major function ofthe H1 receptor (4)?
increase mucous production,-contract bronchioles, pruritis,-pain
What is the major function of
increase gastric acid secretion
the H2 receptor (4)?
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What is the major function of
service for the other organs
the liver?
and tissues
What is the major function ofthe M1 receptor?
What is the major function ofthe M2 receptor?
What is the major function ofthe M3 receptor?
CNS
decrease heart rate
increase exocrine glandsecretions
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What is the major function of
increase vascular smooth
the V1 receptor?
muscle contraction
What is the major function ofthe V2 receptor?
What is the major inhibitor ofglyc and pyr ox?
increase water permeabilityand reabsorption in the renal
collecting tubules
citrate (FA and ketone bodies)ATP and cAMP, -acetyl CoA,NADH, ATP
What is the major inhibitor of
ATP, long-chain acyl-coA
TCA?
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What is the major inhibitor of
cholesterol and cAMP
cholesterol synthesis (2)?
What is the major inhibitor of
ADP and AMP and F-2,6-bisglycogenesis?
P
What is the major metabolicpathway of fast twitch
glycolysismuscle?
What is the major metabolic
Aerobic pathways like B
pathway of slow twitch
oxidation and TCA cycle
muscle?
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What is the major product of
lactate
fast twitch muscle?
What is the major product ofslow twitch muscle?
What is the major regulatoryenzyme of glycogenolysis?
What is the major regulatoryenzyme of lipogenesis?
lactate
glycogen synthase
acetyl CoA carboxylase
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What is the major regulatoryenzyme of pentosephosphate pathway (PPP)?
What is the major regulatoryenzyme of TCA?
What is the mechanism forthe ETC inhibitors?
What is the mechanism forthe ETC uncoupler?
glucose-6-P dehydrogenase
citrate synthase
directly block ETC, cause
decreased proton gradient
inc. membrane permeability,decreases proton gradientand increases O2 consmption
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What is the mechanism ofethanol hypoglycemia?
What is the mnemonic for thevarious substrates of the TCA
cycle?
NADH/NAD increases in livercauses diversion of pyruvateto lactate and OAA to malateinhibits gluconeogenesis andthus leads to hypoglycemia
Cindy Is Kinky So SheFornicates More Often
What is the mneumonic for
PriVaTe TIM HALL
essential AA?
A-1 Activates LCAT B-100What is the mneumonic for
Binds to receptor C-II is amajor apolipoproteins?
Cofactor for LPL E mediatesExtra (remnant) uptake
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Ordinarily, Careless Crappers
What is the pneumonic for
Are Also Frivolous About
the Urea cylce substrates?
Urination
an intestinal intermediateWhat is urobilinogen?
reabsorbed to blood andexcreted in urine as urobilin
What other physiological sideaffect occurs by this
hypoglycemia?
fatty liver seen in chronicalcoholics
What rxn does pyruvate
pyruvate+NAD+CoA goes to
dehydrogenase catalyze?
acetyl-CoA +CO2+NADH
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What second messenger
adenylcyclase reduces cAMP
system does Gi work
levels and protein kinase A is
through?
reduced
What second messengersystem does Gq workthrough?
What second messenger
system does Gs workthrough?
phospholipase C, PIP2 to IP3and DAG DAG works throughprotein kinase C IP3 increasesIC calcium ion
adenylcyclase converts ATP tocAMP to phosphorylateprotein kinase A
sparingly water soluble toxic
What some properties of
to CNS transported by
bilirubin (3)?
albumin
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What step does this enzyme
HMG-CoA to mevalonate
work on?
What suppressesglycogenesis?
What tissues require insulinfor glucose uptake?
What type of metabolismoccurs in the both (3)?
insulin
adipose and skeletal muscle
-gluconeogenesis, -ureacycle, heme synthesis
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glycolysis, -fatty acidWhat type of metabolism
synthesis, -HMP shunt, occursin the cytoplasm (5)?
protein synthesis (RER), steroid
synthesis (SER)
What type of metabolismoccurs in the mitochondria(3)?
Beta oxidation, -Acetyl-CoAproduction, -Kreb's cycle
When are ketone bodies
during prolonged starvation
formed (2)?
diabetic ketoacidosis
Where are basic AA found in
in Histones that bind to
high amounts?
negative DNA
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Where are cholymicrons
small intestine
made?
Where are ketone bodies
liver
made?
Where does FA degradation
mitochondria, where it will be
occur?
used
Where does FA synthesis
cytosol
occur?
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Where is ALA synthase found
mitochondria, heme
and what inhibits it?
Where is HDL secreted from(2)?
Where is insulin made?
Where is NADPH generated?
liver and small intestine
B cells of pancreas
is a product of HMP shuntand the malate
dehydrogenase rxn
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Where is SAM generated?
From ATP and methionine
Where is VLDL made?
Which ketone body isdetected in urine test (1only)?
Carbon monoxide has agreater affinity for whatmolecule?
liver
acetoacetate
CO has 200x greater affinityfor hemoglobin than foroxygen
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hemoglobin is composed of 4
Describe the subunits for
polypeptide subunits (2 alpha
hemoglobin?
and 2 beta)
During the cycle of the
phosphorylated
sodium pump, it is __.
How are enzymes regulated?
How does calcium causeskeletal muscle contraction?
1. enzyme concentrationalteration (syntesis and/ordestruction) 2. covalentmodification (eg.phosphorylation) 3. proteolyticmodification (zymogen) 4.allosteric regulation (eg. feedbackinhibition) 5. transcriptionalregulation (eg.steroid hormones)Ca2+ -> activates troponin-> moves tropomyosin > exposes actin-biningsite -> allows actin-myosin interaction
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How does calcium causesmooth muscle contraction?
How does procollagenmolecules become collagen
fibrils?
How is CO2 transported fromtissue to lungs?
How is collagen fibillarstructure reinforced?
Ca2+ -> binds tocalmodulin because smooth
muscle doesn't havetroponins!
procollagen molecules cleavedat terminal regions bypeptidases to become insolubletropocollagen, which aggregatesto form fibrils procollagenmolecules are exocytosed intoextracellular space, where thisprocess occurs
-binds to amino acids inglobin chain (at N-terminus),not to heme - favors T formof Hb (thus promotes O2unloading)by the formation of covalentlysine-hydroxylysinecrosslinks betweentropocollagen molecules
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How is hemoglobin structureregulated?
increased Cl-, H+, CO2, DPG,and temperature favor T form(low affinity of O2)--shiftingthe dissociation curve
to theright, leading to increased O2unloading
Most cells are in which cell
G0
cycle phase?
On what cellular stuctures are
flagella, cilia, mitotic spindles
microtubules found?
On which cells isphosphotidylcholine (lecithin)a major component?
- RBC membranes - myelin -bile - surfactant (DPPC-dipalmitoylphosphatidylcholine)- alsoused in the esterification ofcholesterol
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Only the cytoplasmic side of
glycosylated lipids or proteins
membrane contains what?
The lower the Km, the(higher/lower/remains same)
higherthe affinity
What are the 2 forms ofhemoglobin?
What are the cell cyclephases?
-T (taut) form has low affininty foroxygen - R (relaxed) form has 300xhigher affinity for oxygen Hb exertspositive cooperativity and negativeallostery, accounting for thesigmoid-shaped O2 disassociationcurve (which myoglobin doesn't have)[Hint: When you're RELAXED, you doyour job better (carry more O2)]Mitosis (ProphaseMetaphase-Anaphase-Telophase) G1 (Gap orGrowth) S (Synthesis of DNA)G2 (Gap or Growth) G0(quiescent G1 phase)
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What are the characteristicsof a microtubule?
What are the characteristicsof competitive inhibitors?
What are the characteristicsof noncompetitive inhibitors?
-cylindrical structure 24nm india and variable length - helicalarray of polymerized dimers ofalpha- and beta-tubulin (13 percircumference) - each dimer has2 GTPbound - grows slowly,collapses quickly - involved inslow axoplasmic transport inneurons-resemble substrates - bindreversibly to active sites ofenzymes - high substrateconcentrations overcomes
effect of inhibitors - Vmaxremains unchanges - Kmincreases compared tounhibited- doesn't resemble substrate -bind to enzyme but notnecessarily at active site -inhibition can't be overcome byhigh substrate concentration -Vmax decreases - Km remainsunchanged compared touninhibited
What cell cycle phases are
G1 and G0
variable in duration?
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What drugs act onmicrotubules?
What drugs inhibits thesodium pump?
What is methemoglobinemia?
What is the differencebetween collagen fibril andcollagen molecule?
-mebendazole/thiabendazole (antihelmintic)
-taxol (anti-breast cancer) -griseofulvin (antifungal) cholchicine(anti-gout)-Ouabain inhibits the pumpby binding to the K+ site -cardiac glycosides (digoxin,digitoxin) also inhibit thepump, causing increasedcardiac contractilityblood disorder wheremethemoglobin, an oxidizedform of hemoglobin (ferric,Fe3+) that does not bind O2as readily. Iron in Hb isnormally in a reduced state(ferrous, Fe2+)
fibril is made of moleculescollagen fibril--many
staggered collagen moleculeslinked by lysyl oxidasecollagen molecule--3collagenalpha chains, usuallyof Gly-x-y (x and y = pro,OH-pro, or OH-lys)
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What is the first step informing collagen from prolyland lysyl residues? Wheredoes it occur? What nutrientdoes it require?
What is the plasma
membrane composition?
hydroxylation endoplasmicreticulum vitamin C
-cholesterol (~50%,promotes membrane stability)- phospholipids (~50%) -sphingolipids -glycolipids proteinsWhat is the sodium pump?
Na-K ATPase
What molecules, how many ofthem, and in what directionare moved across the
3 Na go out and 2 K go inmembrane by the sodiumpump?
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on the membrane, with theWhere is the sodium pump?
ATP site on the cytoplasmicside of the pump
Which cell cycle phase is
rapidly dividing cells have a
shorter in rapidly dividing
shorter G1 phase
cells?
Which cell cycle phase is
mitosis
usually shortest?
Arthralgia's, fatigue,headaches, skin changes,sore throat, alopecia are
Vit A (Retinal)symptoms foundin whatvitamin deficiency
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What are the findings in Vit D
Hypercalcemia, loss of
excess?
appetite, stupor
What are the possible causesof hypercalcemia?
What are the signs andsymptoms of vit B12deficiency?
1. Vit D intoxication 2.
Malignancy 3.Hyperparathyroidism 4. Milk-alkali syndrome 5.Sarcoidosis 6. Paget's diseaseof bone1. Macrocytic megaloblasticanemia 2. Neurologicsymptoms-optic neuropathy,subacute combineddegeneration 3. glossitisWhat are the signs of Biotin
dermatitis, enteritis
deficiency and what are
antiobiotic use and ingestion
possilble causes?
of raw eggs
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What are the signs of Folatedeficiency?
What are the symptoms in VitB5 deficiency
What are the symptoms ofPellagra
What are the usual causes ofVit B12 deficiency?
Macrocytic megaloblasticanemia sprue
dermatitis, enterititis,alopecia, adrenal insufficiency
3 D's Diarrhea, Dermatitis,Dementia, and also Beefyglossitis
1. Malabsorption- Sprue,enteritis, Diphyllobthriumlatum (Dr. Lohr's fishtapeworm) 2.lack of intrinsicfactor (pernicious anemia) 3.Absence of the terminalileum- Crohn's disease orsurgery
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What is the active form of
1,25 (OH)2 D3 = active form
Vitamin D?
What is the alternate name of
niacin Pellagra Hartnup
Vit B3, problems in
disease, malignant carcinoid
deficiency, common cause of
syndrome, and INH
defieciency
What is the alternate name ofvitamin B1 and what are thecharacteristic diseases of it'sdeficiency
Beriberi and Wernicke-Korsakoff syndrome
What is the folic acid
PABA is the precursor sulfa
precursor in bacteria and
drugs and dapsone are PABA
what antibiotics exploit this
analogs
fact?
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What is the form of vitamin Dconsumed in milk?
What is the form of Vitamin Dfound in sun-exposed skin?
What is the function andalternate name of Vit. B2
What is the function of Biotin?
D2 = ergocalciferol
D3 = cholecalciferol
cofactor in oxidation andreduction (FAD,FMN)RiboFlavin
Cofactor for carboxylations 1.Pyruvate to oxaloacetate 2.Acetyl-CoA to malonyl Co-A3. Prprionyl-CoA tomethylmalonyl-CoA
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What is the function of folicacid?
What is the function of Vit A,it's alternate name, and
symptoms in deficiency
What is the function of Vit B1
What is the function of Vit B6
coenzyme for 1-carbontransfer;methylation reactionsimportant for the synthesis ofnitrogenous bases in DNAand RNA
visual pigments (retinal)retinol night blindness anddry skin
it becomes ThiaminePyrophosphate (TPP) and isused in: oxidativedecarboxylation of Alpha-keto acids (pyruvate, Alpha-ketoglutarate cofactor fortranketolase in the HMP shunt
B6 (pyridoxine) is convertedto pyridoxal phosphate acofactore in transaminationreactions (ALT & AST),
decarboxylation, and transsulfuration
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antioxidant; especially inErythrocytes where it protects
What is the function of Vit E?
them from hemolysis Vit E isfor Erythrocytes
What is the function ofvitamin C?
1. Cross linking of collagen-hydroxylation of proline andlysine in collagen synthesiskeeping iron in the Fe2+reduced state making it moreabsorbable 3. Cofactor forcoverting dopamine tonorepinephrineWhat is the function of
increase intestinal absorption
Vitamin D?
of Calcium and phosphate
What is the function ofVitamin K?
catalyzes gamma-carboxylation of glutamicacid residues on variousproteins concerned withclotting.
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What is the most commonvitamin deficiency in the
Foilic AcidUnited States?
What is the rule of 2's for VitB2
What is the sotrage form ofVitamin D?
What is the source of Vit B12and what is B12's other name
2 F's, 2C's and 2ATP 2F's=FAD&FMN 2 C's =signs of deficiency cheilosisand corneal vascularizationoxidation of FADH2 leads to 2ATP
25-OH D3
found only in animal productscobalamin
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What is vit B5's function andalternate name
constituent of CoA, part offatty acid synthase. Cofactorfor acyl transfersPantothenate (Pantothen-A isin Co-A)
What manifestation is specific high output cardiac failureto wet beriberi?
(dilated cardiomyopathy)
What molecule in egg white
binds up Biotin and causes
Avidindeficiency
Neonatal hemorrhage withincreased PT increased aPTT,but normal bleeding time in
What problems do you see in
general, mild vitamin k
Vit K deficiency?
deficiency will prolong PT andhave normal PTT severe
deficiency will prolong PT and
PTT
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What scenerios are vit B
alcholism and malnutrition
defieciencies often seen in
What test is used to detect
Schilling test
B12 deficiency
What two general types of
Malabsorption syndromes
things will cause fat soluble
( cystic fibrosis and sprue)
vitamin deficiency
and mineral oil intake
What vitamins more
fat soluble vitamins b/c these
commonly cause toxicity and
accumulate in fat
why
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What water soluble vitamin
B12 which is stored in the
does not wash out easily from
liver
the body
What will a defieciency in Vit E
Increased fragility of
lead to?
erythrocytes
Where is B12 synthesized andstored
synthesized only inmicroorganisms storedprimarily in liver
synthesized by ntestinal flora
Where is Vit K synthesized
prolonged broad spectrum
and what is one cause of Vit K
antibiotic use can kill off the
deficiency?
flora can cause a deficiency
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