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Excision repair-specific
glycosylase recognizes and
removes damaged base.
Describe single-strand, Endonuclease makes a break
several bases to the 5' side.
excision repair.
Exonuclease removes short
stretch of nucleotides. DNA
polymerase fills gap. DNA ligase
seals.
1) specific glycosylase. 2)
Name the enzymes involved endonuclease. 3)
in ss-DNA repair. (5) exonuclease. 4) Dan
polymerase. 5) DNA ligase.
1) Unambiguous 2)
What are the four features of
Degenerate 3) Commaless,
the Genetic Code?
non-overlapping 4)Universal
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
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)
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
Glucose-6-phosphatase
Von Geirke's disease is a deficiency; also known as
result of? Type I Glycogen Storage
disease
A build up of sphingomyelin
and cholesterol in
reticuloendothelial and Niemann-Pick disease
parenchymal cells and tissues
is found in what disease
Osteogenesis
imperfecta;disease of
A child is born with multiple abnormal collagen synthesis
fractures and blue sclera what resulting in fractures and
is the diagnosis translucent Conn tiss over
chorioid causing the blue
sclera
A congenital deficiency of Albinism, can't synthesize
tyrosinase would lead to melanin from tyrosine
Absence of hexosaminidase A
GM2-ganglioside
results in the acumulation of
accumulation; Tay-Sachs
what molecule that is
disease
characteristic of what disease
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
when differences in
phenotype depend on
define genetic imprinting
whether the mutation is of
paternal or maternal origin
Glucocerebroside
accumulation in the brain,
Gaucher's disease
liver, spleen, and bone
marrow are characteristic of
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.
deficiency of debranching
Type III Glycogen storage
enzyme alpha-1,6-
disease is a defiency of ?
glucosidase
none, mitochondrial
What % of kids born to father myopathies are inherited
with mitochondrial myopathie from mitochondria which is
will be effected only inherited from the
mother
What are the clinical signs of optic atrophy, spasticity, early
Krabbe's disease death
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
Absence of HGPRTase,
(normally converts
What causes Lesch-Nyhan hypoxanthine to IMP and
syndrome guanine to GMP) Lacks
Nucleotide Salvage (LNS)-
purines
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
What is a complication of
cystine kidney stones
cystinuria
What is osteogenesis
imperfecta often confused child abuse
with
Alpha-galactosidase A
What is the cause of Fabry's deficiency; gives
disease and what is the accumulation of ceramide
common clinical problem trihexoside causing renal
failure
Absence of galactose-1-
What is the cause of phosphate uridyltransferase;
galactosemia? 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
pulmonary infections,
What is the clinical picture of exocrine pancreatic
a patient with cystic fibrosis insufficiency, infertility in
men
defect in cystathionine
synthase. Two forms: 1.
What is the etiology of deficiency 2. decreased
Homocystinuria affinity of synthase for
pyridoxal phosphate
(cofactor)
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
mental retardation,
What is the phenotype of
characteristic facial features,
Fragile X
large testes
either 1.decreased
What is the primary defect(s) phenylalanie hydroxylase or
found in Phenylketoneuria 2. decreased
tetrahydrobiopterin cofactor
1. For a defiency in
cystathionine synthase tx by
What is the treatment of decrease Met and increase
Homocystinuria 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
2,3-BPG via
1,3-BPG
bisphosphoglycerate mutase
aldehydes TPP
prostaglandins, -
Arachidonate
thromboxanes, -leukotrienes
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
Glucose UDP-Glucose
FA and AA converted to
How are ketone bodies
acetoacetate and b-
formed?
hydroxybutyrate
inhibits acetylaldehyde
How does disulfiram work?
dehydrogenase
How does FA enter the
via citrate shuttle
cytosol?
ethanol oxidized to
acetylaldehyde by alcohol
How is ethanol metabolized? dehyd and NAD+
acetalaldehyde ox to acetate
by acetylaldehyde and NAD+
Mnemonic for
Pathway Produces Fresh
gluconeogenesis irreversible
Glucose
enzymes?
phosphoryl ATP
-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
bronchconstriction,
What do LT c4, D4 and E4 do vasoconstriction, contract
(4)? smooth muscle, increase
vascular permeability
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
Protein-calorie malnutrition
What is Marasmus?
resulting in tissue wasting
What is the activator of
Citrate
lipogenesis?
-decrease sympathetic
What is the major function of
outflow, -decrease insulin
the a2 receptor (2)?
release
an intestinal intermediate
What is urobilinogen? reabsorbed to blood and
excreted in urine as urobilin
What suppresses
insulin
glycogenesis?
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)
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)
- cylindrical structure 24nm in
dia and variable length - helical
array of polymerized dimers of
What are the characteristics alpha- and beta-tubulin (13 per
circumference) - each dimer has
of a microtubule?
2 GTP bound - grows slowly,
collapses quickly - involved in
slow axoplasmic transport in
neurons
- cholesterol (~50%,
promotes membrane stability)
What is the plasma
- phospholipids (~50%) -
membrane composition?
sphingolipids -glycolipids -
proteins
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
Riboflavin is B2 2
What are the characteristic
C's=cheilosis and Corneal
findings seen in Riboflavin
vascularization and also
deficiencies
Angular stomatitis
1. Vit D intoxication 2.
Malignancy 3.
What are the possible causes Hyperparathyroidism 4. Milk-
of hypercalcemia? alkali syndrome 5.
Sarcoidosis 6. Paget's disease
of bone
1. Macrocytic megaloblastic
What are the signs and anemia 2. Neurologic
symptoms of vit B12 symptoms-optic neuropathy,
deficiency? subacute combined
degeneration 3. glossitis
1. Malabsorption- Sprue,
enteritis, Diphyllobthrium
latum (Dr. Lohr's fish
What are the usual causes of tapeworm) 2.lack of intrinsic
Vit B12 deficiency? 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
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
antioxidant; especially in
Erythrocytes where it protects
What is the function of Vit E?
them from hemolysis Vit E is
for Erythrocytes
catalyzes gamma-
carboxylation of glutamic
What is the function of
acid residues on various
Vitamin K?
proteins concerned with
clotting.
What is the most common
vitamin deficiency in the Foilic Acid
United States?
synthesized only in
Where is B12 synthesized and
microorganisms stored
stored
primarily in liver