The amino acid is covalently

At which end of the tRNA is

bound to the 3' end of the
the aa bound?
tRNA.

Can RNA polymerase initiate

Yes.
chains?

Substituting purine for purine

Define transition.
or pyrimidine for pyrimidine.

Substituting purine for

Define transversion.
pyrimidine or vice versa.
 Accurate base pairing is
required only in the first 2
nucleotide positions of an
Define tRNA wobble. mRNA codon, so codons
differing in the 3rd 'wobble'
position may code for the
same tRNA/amino acid.

Origin of replication: continuous DNA

synthesis on leading strand and
discontinuous (Okazaki fragments) on
lagging strand. Primase makes an RNA
Describe DNA replication. primer on which DNA polymerase can
initiate replication. DNA polymerase
reaches primer of preceding fragment;
5'®3' exonuclease activity of DNA
polymerase I degrades RNA primer;
DNA ligase seals;

3'->5' exonuclease activity of

DNA polymerase 'proofreads'
Describe DNA replication each added nucleotide. DNA
(continued answer) topoisomerases create a nick
in the helix to relieve
supercoils

Less condensed (vs.

Describe Euchromatin Heterochromatin),
transcriptionally active
 Condensed, transcriptionally
Describe Heterochromatin
inactive

1) Purines (A,G) have 2 rings.

Describe key structural
2) Pyrimidines (C,T,U) have 1
differences between
ring 3) Guanine has a ketone.
nucleotides.
4) Thymine has a methyl

Describe single-strand,
excision repair.
polymerase fills gap. DNA ligase
Excision repair-specific
glycosylase recognizes and
removes damaged base.
Endonuclease makes a break
several bases to the 5' side.
Exonuclease removes short
stretch of nucleotides. DNA
seals.

Eukaryotic genome has

Describe the difference
multiple origins of
between Eukaryotic Vs.
replication. Bacteria, viruses
Bacterial, viral and plasmid
and plasmids have only one
origin of replications
origin of replication.
 Eukaryotes have 3 different
RNA polymerases ('I, II, III
Describe the main difference
synthesize RMT') and
in eukaryotic and prokaryotic
prokaryotes have 1 RNA
synthesis of RNA.
polymerase (which makes all
3 kinds of RNA).

Introns are precisely spliced out

of primary mRNA transcripts. A
Describe the method by lariat-shaped intermediate is
which introns are removed formed. Small nuclear
ribonucleoprotein particles
from primary mRNA (snRNP) facilitate splicing by
transcript. binding to primary mRNA
transcripts and forming
spliceosomes.

Describe the number of G-C bond (3 H-bonds) A-T

bonds per purine-pyrimidine bond (2 H-bonds G-C bond is
pair. Which is stronger? stronger

Condensed by (-) charged

DNA looped around (+)
Describe the structure of charged histones
Chromatin. (nucleosome bead). H1 ties
the nucleosome together in a
string (30 nm fiber)
 75-90 nucleotides, cloverleaf
form, anticodon end is opposite
3' aminoacyl end. All tRNAs both
eukaryotic and prokaryotic, have
Describe tRNA structure. CCA at 3' end along with a high
percentage of chemically
modified bases. The amino acid
is covalently bound to the 3' end
of the tRNA.

Does RNA polymerase have a

No.
proof reading function?

How do purines and

Purines and pyrimidines pair
pyrimidines interact,
(A-T, G-C) via H-bonds
molecularly?

RNA polymerase II opens DNA

How does RNA polymerase II at promoter site (A-T rich
open DNA? upstream sequence- TATA
and CAAT)
 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 must

Only processed RNA is
occur before an newly
transported out the nucleus
synthesized RNA transcript
of eukaryotes.
leaves the nucleus?

Name 3 types of RNA 1) mRNA 2) rRNA 3) tRNA

Name the charged histones

around which (-) charged
H2A, H2B, H3, H4 histones
DNA loops (nucleosome
core).
Name the enzyme responsible
for the synthesis of RNA in RNA polymerase
prokaryotes.

1) specific glycosylase. 2)
Name the enzymes involved endonuclease. 3)
in ss-DNA repair. (5) exonuclease. 4) Dan
polymerase. 5) DNA ligase.

Name the enzymes RNA polymerase I RNA

responsible for the synthesis polymerase II RNA
of eukaryotic RNA. polymerase III

Exons contain the actual

What are exons? genetic information coding
for a protein
 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

1) Unambiguous 2)
What are the four features of
Degenerate 3) Commaless,
the Genetic Code?
non-overlapping 4)Universal

What atoms link aa in a

Amino acids are linked N to C
protein chain?
What changes occur in DNA In mitosis, DNA condenses to
structure during mitosis? form mitotic chromosomes

What codon sequence is All tRNAs, both eukaryotic

found at the 3' end of all and prokaryotic, have CCA at
tRNAs? 3' end.

5' > 3'. Remember that the

5' of the incoming nucleotide
What direction is DNA bears the triphosphate
synthesized in? (energy source for the bond).
The 3' hydroxyl of the
nascent chain is the target.

Protein synthesis also

What direction is protein
proceed in the 5' to 3' (5' >
synthesized in?
3')
 5' > 3'. Remember that the
5' of the incoming nucleotide
What direction is RNA bears the triphosphate
synthesized in? (energy source for the bond).
The 3' hydroxyl of the
nascent chain is the target.

AUG codes for methionin,

which may be removed before
What does the AUG mRNA translation is completed. In
sequence code for? prokaryotes the initial AUG
codes for a formyl-methionin
(f-met).

What does the P in P-site

P-site: peptidyl; A-site:
stand for? What does the A in
aminoacyl;
A-site stand for?

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?
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, 'the

Each codon specifies only one
genetic code is unambiguous'
amino acid
mean?

The same code is used in all

What does the statement, 'the
lifeforms. The exceptions are
genetic code is universal'
1. mitochondria, 2.
mean? What are the
archaeobacteria, 3.
exceptions (4)?
Mycoplasma, 4. some yeasts

Aminoacyl-tRNA synthetase.
This enzyme (one per aa, uses
What enzyme is responsible ATP) scrutinizes aa before and
for 'charging' tRNA? How does after it binds to tRNA. If
it work? incorrect, bond is hydrolyzed
by synthetase. The aa-tRNA
bond has energy for
formation of peptide bond.
What inhibits RNA polymerase alpha-amanitin inhibits RNA
II? polymerase II

Mutation results in a different

What is a conservative aa encoded, but that new aa
missense mutation? is similar in chemical
structure to the original code

What is a frameshift A change in DNA resulting in

mutation? What is usually the misreading of all nucleotides
effect on the encoded downstream. Usually results
protein? in a truncated protein.

Mutation results in a different

What is a missense mutation?
aa encoded.
 A change in DNA resulting in
What is a nonsense mutation?
an early stop codon.

Site where RNA polymerase

and multiple other
What is a promoter? transcription factors bind to
DNA upstream from gene
locus.

Mutation results in the same

What is a silent mutation?
aa encoded. Often the base
What usually causes a silent
change is in the 3rd position
mutation?
of the codon

snRNP = small nuclear

ribonucleoprotein. snRNPs
What is a snRNP? What is its
facilitate splicing by binding
function?
to primary mRNA transcripts
and forming spliceosomes.
 Stretch of Dan that alters
gene expression by binding
transcription facts. May be
What is an enhancer? located close to, far from, or
even within (an intron) the
gene whose expression it
regulates.

The discontinuous DNA

What is an Okazaki fragment? synthesized on the lagging
strand during DNA replication

hnRNA = heterogeneous
What is hnRNA? nuclear RNA The initial RNA
transcript is called hnRNA

Aminoacyl-tRNA synthetase
What is responsible for the
and binding of charged tRNA
accuracy of amino acid
to the codon are responsible
selection during peptide
for accuracy of amino acid
synthesis?
selection.
 What is the broad
Purines (A, G) and Pyrimidines
classification of nucleotides?
(C, T, U)
(2)

hnRNA = the initial RNA

What is the difference
transcript mRNA = capped
between hnRNA and mRNA?
and 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?
 5'®3' exonuclease activity of
DNA polymerase I degrades
What is the function of DNA
RNA primer; 3'®5'
polymerase during DNA
exonuclease activity of DNA
Replication? (2)
polymerase 'proofreads' each
added nucleotide.

What is the function of DNA DNA topoisomerases create a

topoisomerase during DNA nick in the helix to relieve
Replication? supercoils

Primase makes an RNA

What is the function of primer on which DNA
primase in DNA Replication? polymerase can initiate
replication.

What is the function of RNA RNA polymerase I makes

polymerase I? rRNA
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)
 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 of

Endonuclease makes a break
endonuclease in ss-DNA
several bases to the 5' side.
repair?

What is the role of excision

Recognizes and removes
repair-specific glycosylase in
damaged base.
ss-DNA repair

What is the role of

Exonuclease removes short
exonuclease in ss-DNA
stretch of nucleotides.
repair?
 If incorrect, the aa-tRNA
What prevents an incorrect
bond is hydrolyzed by
aa-tRNA pairing?
aminoacyl-tRNA synthetase.

H1 ties the nucleosome

What role does histone H1
together in a string (30nm
play in chromatin structure?
fiber)

The aa-tRNA bond has energy

What supplies the energy for
for formation of peptide
formation of peptide bond?
bond.

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.
 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.

If both strands are damaged,

repair may proceed via
When is recombination
recombination with
involved in DNA repair?
undamaged homologous
chromosome.

Where does RNA processing RNA processing occurs in the

occur in eukaryotes? nucleus.

Which is the largest type of

mRNA (massive)
RNA?
Which is the most abundant
rRNA (rampant)
type of RNA?

Which is the smallest type of

tRNA (tiny)
RNA?

Codons differing in the 3rd

Which nucleotide position in
'wobble' position may code
the codon has room for
for the same tRNA/amino
'wobble'?
acid

Electrophorese RNA on a gel

transfer to a filter expose
How do you do a Northern
filter to a labeled DNA probe
Blot?
visualize the DNA probe
annealed to the desired RNA
 Electrophorese DNA on a gel
transfer to a filter and
How do you do a Southern denature the DNA expose to
Blot? a labeled DNA probe
visualize probe annealed to
desired DNA fragment

Separate protein by
electrophoresis transfer to a
How do you do a
filter expose to a labeled DNA
Southwestern blot?
probe visualize DNA bound to
desired protein

Separate protein by
electrophoresis transfer to a
How do you do a Western
filter expose to a labeled
Blot?
antibody visualize Ab bound
to desired protein

1. Heat DNA to denature. 2.

Cool DNA and let the primers
aneal. 3. Heat-stable
How do you do PCR? (4 steps)
polymerase replicates DNA
following each premer 4.
Repeat
 SCID, Lesh-Nyhan, CF,
familial hypercholesterolemia
What are some genetic retinoblastoma, sickle cell, B-
diseases detectable by PCR? thalassemia, hemophilia A
(11) and B, von Willebrand's dz,
lysosomal dz, and glycogen
stroage dz

What gene is involved in

CFTR
cystic fibrosis?

What gene is involved in

familial LDL-R
hypercholesterolemia?

What gene is involved in

HGPRT
Lesh-Nyhan syndrome?
 What gene is involved in
Rb
retinoblastoma

What gene is involved in

adenosine deaminase
SCID?

What gene is involved in

? globin gene
Sickle cell and ?-thal?

Rapid lab test in which an

What is an ELISA (enzyme
linke immunosorbant assay)?
antibody or an antigen
(usually collected from a
patient) is exposed to an Ag
or Ab liked to to an enzyme.
A positive test results in a
Ag-Ab match and is usually
indicated by a color change

What is PCR?
Von Geirke's disease is a
result of?
A build up of sphingomyelin
and cholesterol in
reticuloendothelial and
parenchymal cells and tissues
is found in what disease
A child is born with multiple
fractures and blue sclera what
is the diagnosis
Lab procedure used to
synthsize many copies of a
desired fragment of DNA
Glucose-6-phosphatase
deficiency; also known as
Type I Glycogen Storage
disease
Niemann-Pick disease
Osteogenesis
imperfecta;disease of
abnormal collagen synthesis
resulting in fractures and
translucent Conn tiss over
chorioid causing the blue
sclera
 A congenital deficiency of Albinism, can't synthesize
tyrosinase would lead to melanin from tyrosine

A patient presents with

cataracts,
hepatosplenomegaly, and Galactosemia
mental retardation, what is
the Dx?

A patient presents with

corneal clouding and mental
retardation that is, based on
family history, inherited in an Hurler's syndrome
Autsomal recessive pattern,
you impress your intern with
a Dx of

A patient presents with 1.

Hyperextensible skin 2.
Tendency to bleed 3. Ehlers-Danlos syndrome
Hypermobile joints you
astutely Dx them with
 Absence of
Galactosylceramide Beta-
galactosidase leads to
thebuild up of what
compound in what disease
accumulation of
galactocerebroside in the
brain; Krabbe's disease

Absence of hexosaminidase A
GM2-ganglioside
results in the acumulation of
accumulation; Tay-Sachs
what molecule that is
disease
characteristic of what disease

albinism increase risk of

skin cancer
developing what

Autosomal dominant defects

will effect what members of a male and female
family
 Autosomal recessive
disorders often result in what enzyme deficiencies
kind of defect/deficiencie?

Autosomal recessive
disorders usually effect how usually only one generation
many 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?
Defects in structural genes
often follow what pattern of Autosomal dominant
inheritance?

sulfatide in the brain, kidney,

Defiency of arylsulfatase A liver, and peripherla nerves.
results in the accumulation of Characteristic of
what molecule where Metachromatic
Leukodystrophy

when differences in
phenotype depend on
define genetic imprinting
whether the mutation is of
paternal or maternal origin

when not all individuals with

define incomplete penetrance a mutant genotype show the
mutant phenotype
 the tendency for certain
alleles at two linked loci to
define Linkage Disequilibrium occur together more often
thatn expected by chance, as
measured in a population

one gene has more than one

effect on an individual's
define pleiotropy phenotype, autosomal
dominant defects are oftne
pleiotropic

nature and severity of the

Define variable expression phenotype varies from one
individual to another

Fanconi's anemia is caused by

cross-linking agents
what typr of agents
Ganglioside is made up of Ceramide + oligosacharide +
what sialic acid

Gaucher's disease is caused

Beta-glucocerebrosidase
by a deficiency of

Glucocerebroside
accumulation in the brain,
Gaucher's disease
liver, spleen, and bone
marrow are characteristic of

Hglycine is used to make Porphyrin which is then used

what important compound to make Heme
 Histamine is synthesized
Histidine
form what compound

Purine salvage pathway. ADA

normal converts adenosine to
How does adenosine inosine without it ATP &
deaminase defiency cause dATP build up inhibiting
SCID ribonucleotide reductase
which prevents DNA
synthesis lowering
lymphocyte production

X-linked recessive; increase

How is Lesch-Nyhan in uric acid production.
syndrome inheritied andwhat Retardation, self mutalation,
is the result and symptoms 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
In ataxia-telangiectasia DNA
damage caused by what X-rays
source cannot be repaired

hemolytic anemia;oxidizing
in G6PD deficiency the
agents( fava beans,
decrease in NADPH can lead
sulfonamides, primaquine)
to _____ if exposed to _____
and antituberculosis.

In PKU what builds up and phenyalanine builds upe

what can be found in the leading to phenylketones in
urine the urine

In PKU, what amino acid

tyrosine.
becomes essential
 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 transmission

is characteristic of what type X-linked recessive
of genetic disorders?

Pompe's disease is caused by lysosomal alpha-1,4-

a defect in? glucosidase defiency

Sickle cell anemia is caused AR single missense mutation

by what defect and what is in the beta globin; 1:400
it's prevalence blacks
 recurrent painful crisis and
Siclkle cell anemia patients
increased susceptibility to
often present with
infections

Skin sensitivity to UV light

secondary to a DNA repair
xeroderma pigmentosum
defect is characteristic of
what?

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
 The main defect in Ataxia-
DNA repair defect
telangiectasi is a ___

The most common form of

abnormal Collagen Type I
Osteogenesis imperfecta has
synthesis;Autosomal
what genetic problem and
dominant
inheritance

the transporter for what

COLA: Cys,Ornithine, Lysine
amino acids is defective in
and Arginine
cystinuria

Thymidine dimers are formed

by exposure of DNA to UV
light, are the dimers formed dimers are on same side
on the opposing strands of a
DNA molecule or on the same
side?
 Tryptophan can be used to
Niacin, 'Serotonin, melatonin
make what three chemicals

deficiency of debranching
Type III Glycogen storage
enzyme alpha-1,6-
disease is a defiency of ?
glucosidase

Lactase defiency, avoid diary

What is the cause Tx and
products or add lactse pills to
symptoms of Lactase
diet symptoms bloating,
intolerance?
cramps, osmotic diarrhea

What % of kids born to father
with mitochondrial myopathie
will be effected
none, mitochondrial
myopathies are inherited
from mitochondria which is
only inherited from the
mother
What are the clinical signs of optic atrophy, spasticity, early
Krabbe's disease death

What are the components of Ceramide + glucose/

Cerebroside galactose

What are the components of Ceramide +

Sphingomyelin phosphorylcholine

What are the components of

serine + palmitate
sphingosine
 What are the findings and
neurologic defects; increase
treatment of pyruvate
intake of ketogenic nutrients
dehydrogenase

increased glycogen in skeletal

muscle due to a Glycogen
What are the findings in
phosphorylase defiency
McArdles's disease and what
strenuous exercise cause
is the problem
myoglobinuria and painful
cramps

Mental retardation, fair skin,

eczema, musty body odor Tx.
What are the findings in PKU
Decreasee phenylalanin
and what is the treatment
(nutrasweet) and increase
tyrosine

Cardiomegaly and systemic

findings, leading to early
What are the findings in
death. Pompe's trashes the
Pompe's disease and what is
Pump. (Heart, Liver and
it alternate name
muscle) Type II Glycogen
storage disease
 severe fasting hypoglycemia,
What are the findings in Von
increased glycogen in the
Gierke's disease
liver

1.There is no mutation
occuring at the locus 2. There
What are the four
is no selection for any of the
assumptions of the Hardy-
geno types at the locus 3.
Weinberg equilibrium
Random mating 4. no
migration 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
 Homocysteine accumulates in
urine and cystine becomes
what are the signs and essential Methionine and it's
symptoms of Homocystinuria metabolites build up in blood
Mental retardation,
osteoporosis, dislocation of
the lens

Dark Urine from alkapton

What are the symptoms of bodies; also connective tissue
Alkaptonuria is 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
 tyrosine, thyroxine Dopa
What biological chemicals are
dopamine NE, Epinephrine
derived form phenylalanine
and Melanin

What causes Essential

defect in fructokinase
Fructosuria

Absence of HGPRTase,
(normally converts
What causes Lesch-Nyhan hypoxanthine to IMP and
syndrome guanine to GMP) Lacks
Nucleotide Salvage (LNS)-
purines

What do melanin and both derived directly from

Norepinephrine have in dopamine Phenylalanine to
common tyrosine to Dopa to Dopamin
 when one allele of an allele pair is
lost. An example is when a
patient inherits or develops a
What does the term 'loss of mutation in a tumor suppressor
gene and the complimentary
heterozygosity' mean
allele is then lost to deletion/
mutation. The patient would not
develop the cancer until the loss
of the normal allele.

Glycolytic enzyme
deficiencies 1. Hexokinase
What enzyme defiencies are 2.glucose-phosphate
associated with hemolytic isomerase 3.aldolase
anemia 4.triose-phosphate isomerase
5. phosphate-glycerate
kinase enolase pyruvate
kinase

lack of migration of neural

What event in embryology can
crest cells to skin (form
cause albinism
melanocytes)

What genetic error can cause

Adenosine deaminase
Severe Combined
deficiency
Immnuodeficiency (SCID)?
what group of people can be
seen with pyruvate
dehydrognease deficiency
What is a complication of
cystinuria
What is a dominant negitive
mutation?
What is a good pnuemonic for
the four glycogen storage
diseases
alcoholics due to B1
defiecincy
cystine kidney stones
a mutation that exerts a
dominant effect because the
body cannot produce enough
of the normal gene product
with only one allele
functioning normally
Very-Von Gierke's Poor-
Pompes Carbohydrate-Cori's
Metabolism-McArdles
What is commonly associated dry skin, melanoma and other
with xeroderma pigementosa? cancers

What is crucail to the

diagnosis of an Autosomal Family history
dominant disease?

the severity of the diseas

worsens or age of onset of
What is genetic anticipation?
disease is earlier in
succeeding generations

What is inheritance of G6PD

dfiency and what population X-linked recessive; blacks
is effected more often
 What is NAD/NADP made
Niacin, 'Serotonin, melatonin
form

What is osteogenesis
imperfecta often confused child abuse
with

What is the biochemical

defect in Metachromatic deficiency of arylsulfatase A;
leukodystrophy and what is Autosomal recessive
the inheritance pattern

What is the biochemical

deficiency of Beta-
defect in Nieman-Pick
glucocerebrosidase;
disease and how is it
autosomal recessive
inherited

What is the biochemical effect
of G6PD defiency
What is the cause of
Cystinuria and what are the
signs/symptoms
What is the cause of Fabry's
disease and what is the
common clinical problem
What is the cause of
galactosemia?
decrease in NADPH which is
necessary to reduce
glutathione which in turn
detoxifies free radicals and
peroxides
inheritied defect o the tubular
amino acid transporter for
Cystine, ornithine, Lysine and
Arginine in kidneys excess
cystine in urine
Alpha-galactosidase A
deficiency; gives
accumulation of ceramide
trihexoside causing renal
failure
Absence of galactose-1-
phosphate uridyltransferase;
accumualtion of toxic
substances (galactitol)
 Alpha-L-iduronidase defiency
What is the characteristic
leads to corneal clouding and
defect in Hurler's syndrome
mental retardation

Multiple café-au-lait spots,

What is the characteristic
neurofibromas increased
findings in Neurofibromatosis
tumor susceptibilty

pulmonary infections,
What is the clinical picture of exocrine pancreatic
a patient with cystic fibrosis insufficiency, infertility in
men

What is the clinical picture of

muscular weakness and
Duchenne's muscular
degeneration
dystrophy
 decreased Alpha-ketoacid
What is the defect in Maple dehydrogenase. blocks
Syrup Urine disease degradation of branched
amino acids Ile. Val. Leu

What is the epidemiology of Age-dependnet and/or

lactose intolerance hereditary (blacks and Asians)

What is the etiology of
Homocystinuria
defect in cystathionine
synthase. Two forms: 1.
deficiency 2. decreased
affinity of synthase for
pyridoxal phosphate
(cofactor)

What is the finding of

mild mental retardation but
Hunter's syndrome on
no corneal clouding
H&P
 What is the formula for p^2 +2pq + q^2 =1 and p
Hardy-Weinberg equilibrium? +q=1

What is the genetic mech. Of AR; multiple loss-of-function

Cystic fibrosis and it's mutations in a chloride
inheritance channel

What is the genetic X-linked recessive;caused by

mechanism of Duchenne's multiple loss-of-funtion
muscular dystrophy mutations in a muscle protein

X-linked; progressive
expansion of unstable DNA
What is the genetic
causes failure to express
mechanism of Fragile X MR
gene-encoding RNA-binding
protein
 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 general
in Tay-Sach's
populaition
 10 types of this syndrome
What is the inheritance
Type IV-Auto Dominant Type
pattern of Ehlers-Danlos
VI-Auto Recessive Type IX-
syndrome
X-linked recessive

What is the inheritance

Autosomal recessive
pattern of Gaucher's disease

What is the inheritance

pattern of xeroderma autosomal recessive
pigmentosa

What is the inheritiance

X-linked recessive
pattern of Fabry's disease
 Heinz Bodies: altered
What is the lab symptoms of
hemoglobin precipitate in
G6PD defiency
RBC

What is the most

distinguishing finding in Tay- cherry red Macula; these
Sach's disease on Physical patients die by 3
exam

Gaucher's cells with the

What is the pathogneumonic
characteristic 'crinkled paper'
cell type founde in Gaucher's
appearance of enlarged
disease
cytoplasm

What is the pattern of

inheritance of Leber's mitochondrial inheritance
hereditary optic neuropathy?
 increased susceptibility to
What is the phenotype in
fractures;connective tissue
Osteogenesis imperfecta
fragility

Mental and growth

retardation, dysmorphic
What is the phenotype of
features, internal organ
Down's syndrome
anomalies especially heart
problems

mental retardation,
What is the phenotype of
characteristic facial features,
Fragile X
large testes

What is the predominant

problem in Ehlers-Danlos Faulty collagen synthesis
syndrome
 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.
 What is the prevalence of 1:1500 males: can be in
Fragile X- associated mental feamales is a multi-step
retardation process

What is the prevalence of

1:10000,
osteogenesis imperfecta

What is the prevalence of

1:10000
Phenylketonuria

What is the priamry defect in

defiency of aldolase B,
Fructose intolerance and how
autosomal recessive
is it inherited?
 congenital defiency of
What is the primary defect in homogentisic acid oxidase in
Alkaptonuria the degradative pathway of
tyrosine

either 1.decreased
What is the primary defect(s) phenylalanie hydroxylase or
found in Phenylketoneuria 2. decreased
tetrahydrobiopterin cofactor

What is the rate-limiting

Glucose-6-phosphate
enzyme in the Hexose-
dehydrogenase
Monophosphate shunt?

backup of substrate (pyruvate

What is the result of pyruvate
and alanine) resulting in lactic
dehydrognease deficiency
acidosis

What is the specific defect in
Xeroderma pigmentosa
What is the treament of
Cystinuria and what is a
possible consequence of not
treating
What is the treatment of
fructose intolerance?
What is the treatment of
Homocystinuria
defective excision repair such
as uvr ABC exonuclease; have
inability to repair thymidine
dimer formed by UV light
Acetazolide to alkinlize the
urine cystine kidney stones
due to excess cysteine
decrease intake of both
fructose and sucrose (glucose
+ fructose)
1. For a defiency in
cystathionine synthase tx by
decrease Met and increase
Cys in diet 2. for decreased
affinity of synthase Tx by
decrease vitamin B6 in diet
 Exclude galactose and lactose
What is the Tx of
(galactose +glucose) form
galactosemia?
diet

what offspring of females

affected with a mitochondrial
all offspring can be effected
inherited disease will be
effected?

what percent of offspring

from two autosomal recessive
25%
carrier parents will be
effected?

what percent of sons of a

heterazygous mother carrying
50%
an x-linked disease will be
effected?
 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 is

usually more severe AR disorders are often more
autosomal recessive or severe
dominant?
 What type of inheritance is
transmitted only through mitochondrial
mothers?

When do patients usually

present with autosomal present in childhood
recessive disorders?

RBC's metabolize glucose

Why are RBC so susceptible to anaerobically (no
Glycolytic enzyme def. mitochondria) and depends
on glycolysis

deficent aldolase B causes the

accumulation of Fructose 1-
Why do people with fructose phosphate which acts as a
intolerance become phosphate sink and traps the
hypoglycemic? phosphate. Decreased
phosphate availability inhibits
glycogenolysis and
gluconeogenesis
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
 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?
 ATP cAMP via adenylate cyclase

By what rxn order kinetics

does alcohol dehydrogenase zero order kinetics
operate?

CH(3) groups SAM

Choline CDP-choline
 ACh via choline
Choline
acetyltransferase

CO(2) biotin

glucagon phosphorylates
Contrast glucagon and stuff, -turns glycogen
insulin. synthase off and
phosphorylase on

hexokinase throughout the

Contrast hexokinase and body, -GK in liver and has
glucokinase. lower affinity but higher
capacity for glucose
 Contrast hexokinase and only HK is feedback inhibited
glucokinase. by G6P

Does insulin affect glucose

uptake of brain, RBC's and No
liver?

Does insulin inhibit glucagon

release by alpha cells of yes
pancreas?

electrons NADH, NADPH, FADH(2)

 fructose-1,6-bis-P via PFK
Fructose-6-phosphate (rate limiting step of
glycolysis)

Glucose UDP-Glucose

GABA via glutamate

glutamate decarboxylase (requires vit.
B6)

GTP cGMP via guanylate cyclase

 How are ketone bodies
in urine
excreted?

FA and AA converted to
How are ketone bodies
acetoacetate and b-
formed?
hydroxybutyrate

How do the statin drugs they inhibit HMG-CoA

work? reductase

inhibits acetylaldehyde
How does disulfiram work?
dehydrogenase
 How does FA enter the
via citrate shuttle
cytosol?

How does FA enter the

via the carnitine shuttle
mitochondria?

inhibits ALA dehydratase and

How does lead affect heme
ferrochelatase prevents
synthesis?
incorporation of Fe

How does the brain

to 2 molecules of acetyl coA
metabolize ketone bodies?
 collected by liver, conjugated
How is bilirubin removed
with glucuronate excreted in
from the body?
bile

ethanol oxidized to
acetylaldehyde by alcohol
How is ethanol metabolized? dehyd and NAD+
acetalaldehyde ox to acetate
by acetylaldehyde and NAD+

How is FA entering the

by cytoplasmic malonyl-CoA
mitochondria inhibited?

How is glutamate converted By the loss of amonium and

to a-ketogluturate reduction of NADP
How is glutamine converted
By the loss of amonium
to glutamate?

scavenged from RBC's and Fe

How is heme catabolized?
+2 is reused

by target cells through

How is LDL uptake
receptor-mediated
undergone?
endocytosis

How is most plasma LCAT(lecethin-cholesterol

cholesterol esterfied? acyltransferase)
How is NAD+ generally used
catabolic processes
metabolically?

anabolic processes (steroid

How is NADPH generally used
and FA synthesis), repiratory
metabolically?
burst, P-450

by need for ATP and supply of

How is TCA regulated?
NAD+

How many ATP's per acetyl

12
CoA?
 How many ATP equivalants
are needed to generate 6
glucose from pyruvate?

How many enzyme activities

does pyruvate dehydrognase 3
possess

How many moles of ATP are

generated aerobically through 36 ATP
G3P shuttle?

How many moles of ATP are

generated aerobically through 38 ATP
malate shuttle?
How many moles of ATP are
2 ATP
generated anaerobically?

In what tissue does heme

liver and bone marrow
synthesis occur (2)?

insulin moves glucose into

Insulin mneumonic
cells

Is Serum C peptide present

with exogenous insulin No
intake?
 Kwashikor results from a
Malabsorption, Edema,
protein deficient MEAL
Anemia, Liver (fatty)
(mneumonic)

Mnemonic for
Pathway Produces Fresh
gluconeogenesis irreversible
Glucose
enzymes?

Mnemonic for SAM. SAM the methyl donor man

Name 6 common products of glucose, lactate, Acetyl CoA

pyruvate metabolism? +CO2, OAA, Alanine
Name the activated carriers
with associated moleclues tetrahydrofolates
(one carbon units).

phosphoryl ATP

T/F. Uncouplers stop ATP

FALSE
production?

Underproduction of heme microcytic hypochromic

causes what anemia? anemia
What AA are required during
Arg and His
periods of growth?

What are clincial syndromes xanthomas, atherosclerosis

of this disorder? homozygotes MI by age 30

What are major pathways most including

occur in the liver (8)? gluconeogenesis, etc.

What are the activators of

cAMP, and calcium ion
glycgenolysis?
 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?
What are the components of
CE and B-100
LDL?

What are the components of TG, Cholesterol ester, B-100,

VLDL? CII and E

What are the degradation

heme to biliverdin to bilirubin
product steps (3)?

What are the effector

insulin increases, glucagon
hormones of cholesterol
decreases
synthesis?
 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
 What are the essential
Ile, Phe, Try
glucogenic/ketogenic AA?

What are the essential

Met, Thr, Val, Arg, His
gluconeogenic AA?

What are the essential

Leu and Lys
ketogenic AA?

-pyruvate carboxylase, -PEP

What are the irreversible
carboxykinase,-fructose-1,6-
enzymes of gluconeogenesis
bisphosphotase, -glu-6-
(4)?
phosphotase
 -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

-glucose, -aa and ketone

What are the main substrates
bodies when starved, -
used by brain?
polyunsat FA in neonates

FFA, -some glucose, -lactate,

What are the main substrates
-ketone bodies, VLDL and
used by heart?
cholymicrom triacylglycerol
What are the main substrates FFA, -glucose, -lactate, -
used by liver? glycerol, fructose, -AA

Acetyl CoA for pyruvate

What are the major activators carboxylase and cAMP for PEP
of gluconeogenesis? carboxykinase and F-1,6-
bis-P

What are the major activators AMP, fructose2,6-bis-P,

of glycolysis and pyruvate fructose 1,6-bis-P in muscle,
oxidation? CoA, NAD, ADP and pyruvate

What are the major metabolic

- esterfication of FA's -
pathways of the adipose
lipolysis
tissue (2)?
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?
 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 regulatory pyruvate carboxylase, PEP

enzymes of gluconeogenesis carboxykinase and F-1,6-
(3)? bis-P

What are the major regulatory

PFK and pyruvate
enzymes of glycolysis and
dehydrogenase
pyruvate oxidation?

What are the major regulatory

enzymes of cholesterol HMG-CoA reductase
synthesis?
What are the products of the
glucose and ketone bodies
liver in the fasting state?

What are the products of the

glycogen and fats/VLDL
liver in the fed state?

What are the products of the 3NADH, 1FADH2, 2CO2,

TCA cycle? 1GTP per Acetyl CoA

massive hemolysis, -block in

What are the some causes of catabolism, -diplaced from
hyperbilirubinemia (4)? binding sites on albumin,
decreased excretion
 conjugated (direct/
What are the sources of glucuronidated) and
hyperbilirubinemia (2)? unconjugated(indirect/
insoluble)

What are the specialist -lipoprotein lipase, and well

enzymes 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
 -glucokinase,-glu-6-
phosphotase,-glycerol
What are the specialist kinase, -PEP carboxykinase, -
enzymes of the liver? fructokinase,-arginase,-HMG
coA synthase and lyase, -7a-
hydroxylase

What are the three sites in the NADH dehydrogenase, Cyt b/

electron transport chain for c1, and cytochrome oxidase
active proton transfer? aa3

What can occur as an excess pancreatitis, lipemia retinalis

of cholymicrons (3)? and eruptive xanthomas

What can occur as an excess

pancreatitis
of VLDL?
What catalyzes cholymicron
lipoprotein lipase
to cholymicron remnant?

What catalyzes IDL to LDL? hepatic TG lipase

What catalyzes VLDL to IDL? lipoprotein lipase

What causes a hangover? acetylaldehyde accumulates

 What color is bilirubin and
what is the condition of yellow, jaundice
excess?

What complex is pyruvate a-ketogluturate

dehydrogenase similar to? dehydrogenase complex

bronchconstriction,
What do LT c4, D4 and E4 do vasoconstriction, contract
(4)? smooth muscle, increase
vascular permeability

What does breath smell like

fruity(acetone)
during ketoacidosis?
What does excess LDL cause atherosclerosis, xanthomas,
(3)? and arcus corneae

ATPase inhibitor that

What does oligomycin do to
increases proton gradient but
ETC?
not ATP production

What does PGI stand for? platelet gathering inhibitor

thromboxanes,
What does the COX pathway
prostaglandins and
yield?
prostacyclin
What does the lipooxygenase
leukotrienes
pathway yield?

Ornithine, citrulline,
carbamoyl-p, aspartate,
What does this stand for?
arginosuccinate, fumurate,
arginine, urea

What enzyme catalyzes the

rate limiting step of HMG-CoA reductase
cholesterol syn.?

What induces the PPP? insulin

What is a major component of
modified LDL
atherosclerotic plaque?

What is an uncoupling agent

2,4 DNP (dynamite)
to the ETC?

What is cofactor required for

methionine (SAM) vitamin B12
regeneration?

platelet aggregation and

What is does PGI 2 inhibit (2)?
vasodilation
What is familial hyper- AD genetic defect in LDL
cholesteremia? receptor

What is Kwashikor? protein malnutrition

What is LT B4? neutrophil chemotactic agent

Protein-calorie malnutrition
What is Marasmus?
resulting in tissue wasting
 What is the activator of
Citrate
lipogenesis?

What is the activator of PPP? NADP+

What is the clinical picture of

small child with swollen belly
Kwashikor?

What is the committed step of glycine+succ CoA to delta-

heme synthesis? aminolevulinate
 What is the composition of Base(adenine), ribose, 3
ATP? phosphoryls

What is the consequence of

accumulated intermediates of porphyrias
heme synthesis?

What is the easy way to

First 4 B vitamins + lipoic
remember the cofactors of
acid
PDH complex?

What is the effector hormone

Glucagon
for glycogenesis?
What is the energy content of
the 2 phosphoanhydride 7 kcal/mol each
bonds?

transfers cholesterol from

What is the functiion of HDL
periphery to liver acts as a
(2)?
repository 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
 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
 -produces ribose-5-P from
What is the function of PPP G6P for nucleotide
(3)? synthsesis,-produces
NADPH,-part of HMP shunt

transfers methyl units to wide

What is the function of SAM?
variety of receptors

transfers excess reducing

equivalants from RBC's and
What is the function of the
muscle to liver to allow
Cori Cycle?
muscle to function
anaerobically

What is the function of Tx A2 platelet aggregation and

(2)? vasoconstriction
 Delivers hepatic TG to
What is the function of VLDL?
peripheral tisssue

What is the inhibitor of

long-chain acyl-CoA, -cAMP
lipogenesis (2)?

What is the inhibitor of PPP? NADPH

What is the limiting reagent

NAD+
of ethanol metabolism?
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?
What is the major function of increase vascular smooth
the a1 receptor? muscle contraction

-decrease sympathetic
What is the major function of
outflow, -decrease insulin
the a2 receptor (2)?
release

increase HR, -inc.

What is the major function of conntractility, -inc. renin
the B1 receptor (5)? release,-inc. lipolysis, -inc.
aq. Humor formation

What is the major function of vasodilation, bronchodilation,

the B2 receptor (3)? inc. glucagon release
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

increase mucous production,

What is the major function of
-contract bronchioles, -
the H1 receptor (4)?
pruritis, -pain

What is the major function of

increase gastric acid secretion
the H2 receptor (4)?
What is the major function of service for the other organs
the liver? and tissues

What is the major function of

CNS
the M1 receptor?

What is the major function of

decrease heart rate
the M2 receptor?

What is the major function of increase exocrine gland

the M3 receptor? secretions
What is the major function of increase vascular smooth
the V1 receptor? muscle contraction

increase water permeability

What is the major function of
and reabsorption in the renal
the V2 receptor?
collecting tubules

citrate (FA and ketone bodies)

What is the major inhibitor of
ATP and cAMP, -acetyl CoA,
glyc and pyr ox?
NADH, ATP

What is the major inhibitor of

ATP, long-chain acyl-coA
TCA?
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-bis-

glycogenesis? P

What is the major metabolic

pathway of fast twitch glycolysis
muscle?

What is the major metabolic

Aerobic pathways like B
pathway of slow twitch
oxidation and TCA cycle
muscle?
What is the major product of
lactate
fast twitch muscle?

What is the major product of

lactate
slow twitch muscle?

What is the major regulatory

glycogen synthase
enzyme of glycogenolysis?

What is the major regulatory

acetyl CoA carboxylase
enzyme of lipogenesis?
What is the major regulatory
enzyme of pentose glucose-6-P dehydrogenase
phosphate pathway (PPP)?

What is the major regulatory

citrate synthase
enzyme of TCA?

What is the mechanism for directly block ETC, cause

the ETC inhibitors? decreased proton gradient

inc. membrane permeability,

What is the mechanism for
decreases proton gradient
the ETC uncoupler?
and increases O2 consmption
 NADH/NAD increases in liver
causes diversion of pyruvate
What is the mechanism of
to lactate and OAA to malate
ethanol hypoglycemia?
inhibits gluconeogenesis and
thus leads to hypoglycemia

What is the mnemonic for the

Cindy Is Kinky So She
various substrates of the TCA
Fornicates More Often
cycle?

What is the mneumonic for

PriVaTe TIM HALL
essential AA?

A-1 Activates LCAT B-100

What is the mneumonic for Binds to receptor C-II is a
major apolipoproteins? Cofactor for LPL E mediates
Extra (remnant) uptake
 Ordinarily, Careless Crappers
What is the pneumonic for
Are Also Frivolous About
the Urea cylce substrates?
Urination

an intestinal intermediate
What is urobilinogen? reabsorbed to blood and
excreted in urine as urobilin

What other physiological side

fatty liver seen in chronic
affect occurs by this
alcoholics
hypoglycemia?

What rxn does pyruvate pyruvate+NAD+CoA goes to

dehydrogenase catalyze? acetyl-CoA +CO2+NADH
What second messenger adenylcyclase reduces cAMP
system does Gi work levels and protein kinase A is
through? reduced

phospholipase C, PIP2 to IP3

What second messenger
and DAG DAG works through
system does Gq work
protein kinase C IP3 increases
through?
IC calcium ion

What second messenger adenylcyclase converts ATP to

system does Gs work cAMP to phosphorylate
through? protein kinase A

sparingly water soluble toxic

What some properties of
to CNS transported by
bilirubin (3)?
albumin
What step does this enzyme
HMG-CoA to mevalonate
work on?

What suppresses
insulin
glycogenesis?

What tissues require insulin

adipose and skeletal muscle
for glucose uptake?

What type of metabolism -gluconeogenesis, -urea

occurs in the both (3)? cycle, heme synthesis
 glycolysis, -fatty acid
What type of metabolism synthesis, -HMP shunt, -
occurs in the cytoplasm (5)? protein synthesis (RER), -
steroid synthesis (SER)

What type of metabolism

Beta oxidation, -Acetyl-CoA
occurs in the mitochondria
production, -Kreb's cycle
(3)?

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
 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?
Where is ALA synthase found
mitochondria, heme
and what inhibits it?

Where is HDL secreted from

liver and small intestine
(2)?

Where is insulin made? B cells of pancreas

is a product of HMP shunt

Where is NADPH generated? and the malate
dehydrogenase rxn
Where is SAM generated? From ATP and methionine

Where is VLDL made? liver

Which ketone body is

detected in urine test (1 acetoacetate
only)?

Carbon monoxide has a CO has 200x greater affinity

greater affinity for what for hemoglobin than for
molecule? oxygen
 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 __.

1. enzyme concentration
alteration (syntesis and/or
destruction) 2. covalent
modification (eg.
How are enzymes regulated? phosphorylation) 3. proteolytic
modification (zymogen) 4.
allosteric regulation (eg. feedback
inhibition) 5. transcriptional
regulation (eg. steroid hormones)

Ca2+ -> activates troponin

-> moves tropomyosin -
How does calcium cause
> exposes actin-bining
skeletal muscle contraction?
site -> allows actin-
myosin interaction
 Ca2+ -> binds to
How does calcium cause calmodulin because smooth
smooth muscle contraction? muscle doesn't have
troponins!

procollagen molecules cleaved

at terminal regions by
How does procollagen peptidases to become insoluble
tropocollagen, which aggregates
molecules become collagen
to form fibrils procollagen
fibrils?
molecules are exocytosed into
extracellular space, where this
process occurs

- binds to amino acids in

How is CO2 transported from globin chain (at N-terminus),
not to heme - favors T form
tissue to lungs?
of Hb (thus promotes O2
unloading)

by the formation of covalent

How is collagen fibillar lysine-hydroxylysine
structure reinforced? crosslinks between
tropocollagen molecules
 increased Cl-, H+, CO2, DPG,
and temperature favor T form
How is hemoglobin structure (low affinity of O2)--shifting
regulated? the dissociation curve to the
right, leading to increased O2
unloading

Most cells are in which cell

G0
cycle phase?

On what cellular stuctures are

flagella, cilia, mitotic spindles
microtubules found?

- RBC membranes - myelin -

bile - surfactant (DPPC--
On which cells is
dipalmitoyl
phosphotidylcholine (lecithin)
phosphatidylcholine) - also
a major component?
used in the esterification of
cholesterol
Only the cytoplasmic side of
glycosylated lipids or proteins
membrane contains what?

The lower the Km, the

(higher/lower/remains same) higher
the affinity

- T (taut) form has low affininty for

oxygen - R (relaxed) form has 300x
higher affinity for oxygen Hb exerts
What are the 2 forms of positive cooperativity and negative
allostery, accounting for the
hemoglobin? sigmoid-shaped O2 disassociation
curve (which myoglobin doesn't have)
[Hint: When you're RELAXED, you do
your job better (carry more O2)]

Mitosis (Prophase-
Metaphase-Anaphase-
What are the cell cycle Telophase) G1 (Gap or
phases? Growth) S (Synthesis of DNA)
G2 (Gap or Growth) G0
(quiescent G1 phase)

What are the characteristics
of a microtubule?
What are the characteristics
of competitive inhibitors?
What are the characteristics
of noncompetitive inhibitors?
What cell cycle phases are
variable in duration?
- cylindrical structure 24nm in
dia and variable length - helical
array of polymerized dimers of
alpha- and beta-tubulin (13 per
circumference) - each dimer has
2 GTP bound - grows slowly,
collapses quickly - involved in
slow axoplasmic transport in
neurons
- resemble substrates - bind
reversibly to active sites of
enzymes - high substrate
concentrations overcomes
effect of inhibitors - Vmax
remains unchanges - Km
increases compared to
unhibited
- doesn't resemble substrate -
bind to enzyme but not
necessarily at active site -
inhibition can't be overcome by
high substrate concentration -
Vmax decreases - Km remains
unchanged compared to
uninhibited
G1 and G0
 - mebendazole/
thiabendazole (antihelmintic)
What drugs act on
-taxol (anti-breast cancer) -
microtubules?
griseofulvin (antifungal) -
cholchicine (anti-gout)

- Ouabain inhibits the pump

by binding to the K+ site -
What drugs inhibits the cardiac glycosides (digoxin,
sodium pump? digitoxin) also inhibit the
pump, causing increased
cardiac contractility

blood disorder where

What is methemoglobinemia?
methemoglobin, an oxidized
form of hemoglobin (ferric,
Fe3+) that does not bind O2
as readily. Iron in Hb is
normally in a reduced state
(ferrous, Fe2+)

fibril is made of molecules

collagen fibril--many
What is the difference staggered collagen molecules
between collagen fibril and linked by lysyl oxidase
collagen molecule? collagen molecule--3
collagen alpha chains, usually
of Gly-x-y (x and y = pro,
OH-pro, or OH-lys)
 What is the first step in
forming collagen from prolyl hydroxylation endoplasmic
and lysyl residues? Where reticulum vitamin C
does it occur? What nutrient
does it require?

- cholesterol (~50%,
promotes membrane stability)
What is the plasma
- phospholipids (~50%) -
membrane composition?
sphingolipids -glycolipids -
proteins

What is the sodium pump? Na-K ATPase

What molecules, how many of

them, and in what direction
are moved across the 3 Na go out and 2 K go in
membrane by the sodium
pump?
 on the membrane, with the
Where is the sodium pump? ATP site on the cytoplasmic
side 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 what
vitamin deficiency
 in sarcoid, epitheliod
macrophages convert vitamin
How does sarcoidosis cause
D into it's active form leading
hypercalcemia?
to increased absorption of
calcium

How many ATP are made Niacin=NAD niacin is B3=3

from Niacin ATP

Riboflavin is B2 2
What are the characteristic
C's=cheilosis and Corneal
findings seen in Riboflavin
vascularization and also
deficiencies
Angular stomatitis

What are the fat soluble

D,A,K,E
vitamins
What are the findings in Vit D
excess?
What are the possible causes
of hypercalcemia?
What are the signs and
symptoms of vit B12
deficiency?
What are the signs of Biotin
deficiency and what are
possilble causes?
Hypercalcemia, loss of
appetite, stupor
1. Vit D intoxication 2.
Malignancy 3.
Hyperparathyroidism 4. Milk-
alkali syndrome 5.
Sarcoidosis 6. Paget's disease
of bone
1. Macrocytic megaloblastic
anemia 2. Neurologic
symptoms-optic neuropathy,
subacute combined
degeneration 3. glossitis
dermatitis, enteritis
antiobiotic use and ingestion
of raw eggs
What are the signs of Folate
deficiency?
What are the symptoms in Vit
B5 deficiency alopecia, adrenal insufficiency
What are the symptoms of
Pellagra
What are the usual causes of
Vit B12 deficiency?
Macrocytic megaloblastic
anemia sprue
dermatitis, enterititis,
3 D's Diarrhea, Dermatitis,
Dementia, and also Beefy
glossitis
1. Malabsorption- Sprue,
enteritis, Diphyllobthrium
latum (Dr. Lohr's fish
tapeworm) 2.lack of intrinsic
factor (pernicious anemia) 3.
Absence of the terminal
ileum- Crohn's disease or
surgery
 B complex vitamins
What are the water soluble
(B1,2,3,5,6,12), Vit C, Biotin,
vitamins
Folate

What can induce pyridoxine INH and oral contraceptives

deficiency? Symptoms? convulsion, hyperirritability

What clotting factors are Vit K

dependent and what anti- Factors II, VII, IX, X and
clotting drug acts as a Vit K Protein C and S Warfarin
antagonist?

what disease is characterized

by polyneuritis, cardiac Beriberi (Ber1BerI), due to Vit
pathology and edema and B1 deficiency
what is the cause
What diseases conditions are
Rickets in kids Osteomalacia
caused by Vitamin D
in adults hypocalcemic tetany
deficiency?

What diseases is caused by Scurvy swollen gums,

Vit C deficiency and what are bruising, anemia, poor wound
the findings? healing

Cofactor for homocysteine

What is B12 used for in the
methylation and
body?
methylmalonyl-CoA handling

What is Niacin's function in

part of NAD, NADP and is
the body and from what can it
derived from tryptophan
be derived
 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 of

vitamin B1 and what are the Beriberi and Wernicke-
characteristic diseases of it's Korsakoff syndrome
deficiency

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?
What is the form of vitamin D
D2 = ergocalciferol
consumed in milk?

What is the form of Vitamin D

D3 = cholecalciferol
found in sun-exposed skin?

cofactor in oxidation and

What is the function and
reduction (FAD,FMN)
alternate name of Vit. B2
RiboFlavin

Cofactor for carboxylations 1.

Pyruvate to oxaloacetate 2.
What is the function of Biotin? Acetyl-CoA to malonyl Co-A
3. Prprionyl-CoA to
methylmalonyl-CoA
 coenzyme for 1-carbon
transfer;methylation reactions
What is the function of folic
important for the synthesis of
acid?
nitrogenous bases in DNA
and RNA

What is the function of Vit A, visual pigments (retinal)

it's alternate name, and retinol night blindness and
symptoms in deficiency dry skin

it becomes Thiamine
Pyrophosphate (TPP) and is
used in: oxidative
What is the function of Vit B1 decarboxylation of Alpha-
keto acids (pyruvate, Alpha-
ketoglutarate cofactor for
tranketolase in the HMP shunt

B6 (pyridoxine) is converted
to pyridoxal phosphate a
cofactore in transamination
What is the function of Vit B6
reactions (ALT & AST),
decarboxylation, and trans-
sulfuration

What is the function of Vit E?
What is the function of
vitamin C?
What is the function of
Vitamin D?
What is the function of
Vitamin K?
antioxidant; especially in
Erythrocytes where it protects
them from hemolysis Vit E is
for Erythrocytes
1. Cross linking of collagen-
hydroxylation of proline and
lysine in collagen synthesis
keeping iron in the Fe2+
reduced state making it more
absorbable 3. Cofactor for
coverting dopamine to
norepinephrine
increase intestinal absorption
of Calcium and phosphate
catalyzes gamma-
carboxylation of glutamic
acid residues on various
proteins concerned with
clotting.
 What is the most common
vitamin deficiency in the Foilic Acid
United States?

2 F's, 2C's and 2ATP 2

F's=FAD&FMN 2 C's =
What is the rule of 2's for Vit signs of deficiency cheilosis
B2 and corneal vascularization
oxidation of FADH2 leads to 2
ATP

What is the sotrage form of

25-OH D3
Vitamin D?

What is the source of Vit B12 found only in animal products

and what is B12's other name cobalamin

What is vit B5's function and
alternate name
What manifestation is specific
to wet beriberi?
What molecule in egg white
binds up Biotin and causes
deficiency
What problems do you see in
Vit K deficiency?
constituent of CoA, part of
fatty acid synthase. Cofactor
for acyl transfers
Pantothenate (Pantothen-A is
in Co-A)
high output cardiac failure
(dilated cardiomyopathy)
Avidin
Neonatal hemorrhage with
increased PT increased aPTT,
but normal bleeding time in
general, mild vitamin k
deficiency will prolong PT and
have normal PTT severe
deficiency will prolong PT and
PTT
 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
 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

synthesized only in
Where is B12 synthesized and
microorganisms stored
stored
primarily 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