Term
| What is the rate limiting step in purine synthesis? |
|
Definition
| glutamine-PRPP-amidotransferase |
|
|
Term
| What is the rate limiting step in pyrimidine synthesis? |
|
Definition
| CPS II (Carbamoyl-phosphate-synthetase) |
|
|
Term
| What pathway is CPS I involved in? CPS II? |
|
Definition
CPS I: urea cycle
CPS II: pyrimidine synthesis |
|
|
Term
| What are the 3 carbon sources for purines? |
|
Definition
|
|
Term
| What are the 2 carbon sources for pyrimidines? |
|
Definition
|
|
Term
| What 2 amino acids account for the positive charges of histones? |
|
Definition
| "LA is HIS TONE" lysine and arginine |
|
|
Term
| In which direction is DNA written, transcribed, etc? |
|
Definition
|
|
Term
| Whata are the pyrimidines? The purines? |
|
Definition
Pyrimidines: C-U-T
Purines: GA |
|
|
Term
| Which medication? inhibits ribonucleotide reductase |
|
Definition
| hydroxyurea (antineoplastic) |
|
|
Term
| Which medication? inhibits IMP-dehydrogenase? |
|
Definition
| mycophenolate (immunosuppressant) |
|
|
Term
| Which medication? Inhibits PRPP synthetase |
|
Definition
|
|
Term
| What are 3 features of orotic aciduria? How is it inherited? |
|
Definition
| Autosomal Recessive. MEGALOBLASTIC ANEMIA, hight orotic acid in urine, failure to thrive |
|
|
Term
| Name 5 DNA Repair Defect diseases |
|
Definition
1. Xeroderma pigmentosum
2. Ataxia-telangiectasia
3. Bloom's Syndrome
4. HNPCC
5. BRCA-1 and BRCA-2 |
|
|
Term
| Which bonds are stronger C-G or A-T? Why? |
|
Definition
| C-G because they have a triple bond, whereas A-T has a single bond |
|
|
Term
| What DNA replication protein? creates nick in helix to receive supercoils during replication |
|
Definition
|
|
Term
| What DNA replication protein? unwinds DNA template at replication fork |
|
Definition
|
|
Term
| What are the 3 mRNA stop codons? |
|
Definition
|
|
Term
| Which RNA polymerase makes rRNA? mRNA? tRNA? |
|
Definition
|
|
Term
| Which medication inhibits prokaryotic RNA polymerase? |
|
Definition
|
|
Term
| Which medication bind the 30s subunit which in turn prevents the attachment of aminoacyl-tRNA? |
|
Definition
tetracyclines
"can't transfer w/out a tricycle" |
|
|
Term
| Which medication inhibits formation of the initiation complex and causes misreading of mRNA? |
|
Definition
aminoglycosides
"don't start w/ a mean guy" |
|
|
Term
| Which medication inhibits 50S peptidyltransferase? |
|
Definition
Chlorampenicol
"PEPper your RAM meat" |
|
|
Term
| Which 3 medications bind 50s and block translocation? |
|
Definition
Macrolides, clindamycin, linezolid
"Can't TRANSLOCATE cLINDA w/ a MACk truck in your LINE" |
|
|
Term
| What are the 3 mechanisms cells employ to break down proteins? |
|
Definition
1. ubiquitin
2. lysosomes
3. Ca2+ dependent |
|
|
Term
| What enzyme catalyzes peptide bond formation during protein synthesis? |
|
Definition
| Ribosomal rRNA (aka. "ribozyme") |
|
|
Term
| What are the 3 steps involved in processing DNA before it leaves the nucleus? |
|
Definition
1. Capping on the 5' end (7-methylguanosine)
2. Polyadenylation on 3' end
3.splicing out introns |
|
|
Term
| What are the 2 characteristic sequences of the promotor region |
|
Definition
|
|
Term
| What amino acid frequently has more coding sequences in the mRNA than are represented in the peptide than that is created from that mRNA |
|
Definition
|
|
Term
| What Autosomal Dominant dz? assoc'd w/ floppy mitral valve, dissecting aortic aneurysm, berry aneurysm |
|
Definition
|
|
Term
| What Autosomal Dominant dz? assoc'd w/ mitral valve prolapse, liver dz, and berry aneurysms |
|
Definition
|
|
Term
| What Autosomal Dominant dz? neural tumors and pigmented iris hamartomas |
|
Definition
|
|
Term
| What autosomal dominant dz? very strong association with colon cancer |
|
Definition
|
|
Term
| What autosomal dominant dz? Assoc'd w/ MI before age 20 |
|
Definition
| Familial hypercholesterolemia Type II |
|
|
Term
| What autosomal dominant dz? Hamangioblastomas of retina/cerebellum/medulla |
|
Definition
|
|
Term
| What autosomal dominant dz? increased MCHC, hemolytic anemia |
|
Definition
|
|
Term
| What autosomal dominant dz? bilateral acoustic neuroma |
|
Definition
|
|
Term
| What autosomal dominant dz? facial lesions, seizure d/o, cancer risk |
|
Definition
|
|
Term
| What autosomal dominant dz? caudate atrophy, dementia |
|
Definition
|
|
Term
| What autosomal dominant dz? cystic medial necrosis of the aorta |
|
Definition
|
|
Term
| What autosomal dominant dz? defect of fibroblast growth factor (FGF) receptor 3 |
|
Definition
|
|
Term
| What is the pneumonic for X-linked diseases? What does it stand for? |
|
Definition
| "BOLD FH Girls Win Hearts"....Bruton's, Optic albinism, Lesch-Nyhan, Duchenne/becker MD, Fabry's, Hunter's, G6PD, Wiskott-Aldrich, Hemophilia A and B |
|
|
Term
| What are the Autosomal Recessive dz's? |
|
Definition
| "Thal has salty white sphingers and sick heme storage"...Thalassemias, CF, Albinism, sphigolipidoses, SS anemia, hemochromatosis, glycogen storage dz |
|
|
Term
| Which lysosomal storage dz is assoc'd w/ renal failure? |
|
Definition
|
|
Term
| What are the only 2 X-linked recessive lysosomal storage dz's? |
|
Definition
|
|
Term
| What is the most common lysosomal storage dz? |
|
Definition
|
|
Term
| Which 3 lysosomal storage dz's are assoc'd w/ early death (usually by age 3)? |
|
Definition
1. Tay-sach's
2. Niemann Pick
3. Krabbe's |
|
|
Term
| Which lysosomal storage dz is a demyelinating dz? |
|
Definition
| Metachromatic leukodystrophy |
|
|
Term
| Corneal clouding and/or mental retardation? Hunter's dz |
|
Definition
"He needs to see clearly to hunt"
Yes MR, No corneal clouding |
|
|
Term
| Corneal clouding and/or mental retardation? Hurler's |
|
Definition
"Everything bad is HURLED at him"
Yes MR, Yes corneal clousing |
|
|
Term
| Corneal clouding and/or mental retardation? Scheie's |
|
Definition
"SHE can't see, but she's smart"
No MR, Yes corneal clouding |
|
|
Term
| Corneal clouding and/or mental retardation? I-cell dz |
|
Definition
"the I's (eyes) are definitely affected"
Yes corneal clouding, maybe MR |
|
|
Term
| Deficient enzyme of what lysosomal storage dz? alpha-L-iduronidase |
|
Definition
| "SHE HURLEd the ALabama ID" Scheie and Hurler |
|
|
Term
| Deficient enzyme of what lysosomal storage dz? Iduronate sulfatase |
|
Definition
"HUNTING ID is bad around sulfur ponds"
Hunter's |
|
|
Term
| Deficient enzyme of what lysosomal storage dz? arylsulfatase A |
|
Definition
"Ary has a colorful personality"
Metachromatic leukodystrophy |
|
|
Term
| Deficient enzyme of what lysosomal storage dz? Galactocerebrosidase (galactocerebroside accumulates) |
|
Definition
"Intergalactic krabs"
Krabbe's dz |
|
|
Term
| Deficient enzyme of what lysosomal storage dz? beta-glucocerebrocidase (glucocerebroside accumulates) |
|
Definition
Glucose--Gaucher's
Gaucher's dz |
|
|
Term
| Deficient enzyme of what lysosomal storage dz? hexosaminidase |
|
Definition
|
|
Term
| Deficient enzyme of what lysosomal storage dz? Sphingomyelinase |
|
Definition
"Neimann picks w/ his sphinger"
Neimann Pick's Dz |
|
|
Term
| Which lysosomal storage dz? characterized by an accumulation of GM2 ganglioside |
|
Definition
|
|
Term
| Which lysosomal storage dz? characterized by an accumulation of dermatin sulfate |
|
Definition
"SCHEIE HUNTS for and HURLS herself at DERMATologists"
Hurler's, Hunter's, Scheie |
|
|
Term
| Which 3 lysosomal storage dzs are particularly prevalent among Ashkenazi Jews? |
|
Definition
1. Tay-Sachs
2. Niemann Pick
3. Gaucher's |
|
|
Term
| Which lysosomal storage dz has characteristic "crinkled paper cytoplasm"?` |
|
Definition
|
|
Term
| What is the differential for cherry red spot on macula? (3) |
|
Definition
| Tay-sachs, Niemann Picks, Central retinal A occlusion |
|
|
Term
| What is I-cell disease a deficiency of? What is the normal fxn of this entity? |
|
Definition
| It is a deficiency of mannose phosphorylation. Mannose-6-phosphate is necessary to target lysosomal proteins (ie. lysosomes don't work anymore) |
|
|
Term
| What is the probability that a female heterozygous for an x-linked dz will pass it on to her son? |
|
Definition
|
|
Term
| What is the difference between a southern blot and a northern blot |
|
Definition
Southern blot: DNA probe for DNA
Northern blot: DNA probe for RNA |
|
|
Term
| What is the first step in the signaling cascade that is initiated by tyrosine kinase receptors? |
|
Definition
|
|
Term
| What protein is involved in transporting an endocytosed vesivle from the plasma membrane to the endosome? |
|
Definition
|
|
Term
| What molecule targets proteins in the endoplasmic reticulum for lysosomes? Which dz is caused by a deficiency of this? |
|
Definition
| Mannose-6-phosphate (I-Cell dz if deficient phosphorylation) |
|
|
Term
| Which arachidonic acid product? increased bronchial tone (2) |
|
Definition
| leukotrienes and thromboxane |
|
|
Term
| Which arachidonic acid product? decreased bronchial tone (2) |
|
Definition
| prostacyclin and prostaglandin |
|
|
Term
| Which arachidonic acid product? increased platelet aggregation |
|
Definition
|
|
Term
| Which arachidonic acid product? decreased platelet aggregation |
|
Definition
|
|
Term
| Which arachidonic acid product? increased uterine tone |
|
Definition
|
|
Term
| Which arachidonic acid product? decreased uterine tone |
|
Definition
|
|
Term
| Which arachidonic acid product? increased vascular tone |
|
Definition
|
|
Term
| Which arachidonic acid product? decreased vascular tone (2) |
|
Definition
| prostaglandin and prostacyclin |
|
|
Term
| What are the 2 most abundant substances in the plasma membrane? |
|
Definition
| cholesterol and phospholipids |
|
|
Term
| What provides the structural framework for DNA and the nuclear envelope |
|
Definition
"LAMINates the nucleus"
Nuclear lamins A, B, C |
|
|
Term
| What are the 4 steps of leukocyte extravasation? |
|
Definition
1. Rolling (selectins)
2. Binding (ICAMS)
3. Diapedesis (PCAMS)
4. Migration |
|
|
Term
| Who are the "bouncers" of the nucleus? |
|
Definition
| Nuclear localization signals |
|
|
Term
| What are the 2 main anti-apoptotic signals of the intrinsic pathway? |
|
Definition
|
|
Term
| What is the main mediator of the extrinsic apoptotic pathway? |
|
Definition
| FADD--"Fas-Associated Death Domain" |
|
|
Term
| Mutated nuclear lamins are associated with what 2 diseases? |
|
Definition
| Progeria and Muscular dystrophy |
|
|
Term
| What is the rate determining enzyme? glycolysis |
|
Definition
|
|
Term
| What is the rate determining enzyme? glucogeogenesis |
|
Definition
| fructose-1,6-bisphosphatase |
|
|
Term
|
Definition
|
|
Term
| What is the rate determining enzyme? glycogen synthesis |
|
Definition
|
|
Term
| What is the rate determining enzyme? glycogenolysis |
|
Definition
|
|
Term
| What is the rate determining enzyme? HMP shunt |
|
Definition
|
|
Term
| What is the rate determining enzyme? de novo pyrimidine synthesis |
|
Definition
| CPS II (Carbamoyl phosphate synthetase II) |
|
|
Term
| What is the rate determining enzyme? de novo purine synthesis |
|
Definition
| Glutamine-PRPP-amidotransferase |
|
|
Term
| What is the rate determining enzyme? urea cycle |
|
Definition
| CPS I (Carbamoyl phosphate synthetase I) |
|
|
Term
| What is the rate determining enzyme? Fatty acid synthesis |
|
Definition
| Acetyl-CoA Carboxylase (ACC) |
|
|
Term
| What is the rate determining enzyme? fatty acid oxidation/ beta-oxidation |
|
Definition
| Carnitine acyltransferase I |
|
|
Term
| What is the rate determining enzyme? Ketogenesis |
|
Definition
|
|
Term
| What is the rate determining enzyme? Cholesterol synthesis |
|
Definition
|
|
Term
| What is the rate determining enzyme? Bile acid synthesis |
|
Definition
|
|
Term
| What is the rate determining enzyme? heme synthesis |
|
Definition
| delta-aminolevulinic acid synthase |
|
|
Term
| What are the 3 major regulatory enzymes of the citric acid cycle? |
|
Definition
1. citrate synthase
2. isocitrate dehydrogenase
3. alpha-ketoglutarate |
|
|
Term
| What is the activated carrier for CO2? |
|
Definition
|
|
Term
| What is the activated carrier for glucose? |
|
Definition
| Fructose-1,6-bisphosphatase |
|
|
Term
| What is the activated carrier for one-carbon units? |
|
Definition
|
|
Term
| What is the activated carrier for acyl? (2) |
|
Definition
|
|
Term
| How many ATP are generated during aerobic metabolism via the malate-aspartate shuttle (heart and liver)? Via the glycerol-3-phosphate shuttle (muscle)? |
|
Definition
|
|
Term
| How many ATP are generated during anaerobic metabolism? |
|
Definition
|
|
Term
| Name the 4 potential products of pyruvate |
|
Definition
| "LOAA"...Lactate, OAA, Acetyl CoA, Alanine |
|
|
Term
| Name the 4 irreversible enzymes of gluconeogenesis |
|
Definition
1. Pyruvate carboxylase
2. PEP carboxykinas
3. glucose-6-phosphatase
4. Fru-1,6-bisphosphatase |
|
|
Term
| What is the primary energy source in a patient who has not eaten in 2 days? |
|
Definition
|
|
Term
| A woman commonly develops intense muscle cramps and darkening of her urine after exercise. What is the dx? |
|
Definition
|
|
Term
| In addition to substrates, what vitamin is required by all aminotransferases? |
|
Definition
| pyridoxal phosphate (f/ B6) |
|
|
Term
| What amino acids are the 2 main carriers of nitrogen from tissues? |
|
Definition
|
|
Term
| Which glycogen storage dz? glycogen phosphorylase deficiency |
|
Definition
|
|
Term
| What are the 4 main glycogen storage diseases? |
|
Definition
| "Very Poor Carbohydrate Metabolism"... Von Gierke, Pompe's, Cori, McArdle |
|
|
Term
| Which glycogen storage dz? glucose-6-phosphatase deficiency |
|
Definition
|
|
Term
| Which glycogen storage dz? lactic acidosis, hyperlipidemia, hyperuricemia (gout) |
|
Definition
|
|
Term
| Which glycogen storage dz? alpha-1,6-glucosidase deficiency |
|
Definition
|
|
Term
| Which glycogen storage dz? alpha-1,4-glucosidase activity |
|
Definition
|
|
Term
| Which glycogen storage dz? cardiomegaly |
|
Definition
|
|
Term
| Which glycogen storage dz? severe hepatomegaly, enlarged kidneys |
|
Definition
|
|
Term
| NAD+ vs NADPH: Which is used in catabolic processes and which in anabolic processes? |
|
Definition
Catabolic: NAD
Anabolic: NADP |
|
|
Term
| Hexokinase vs glucokinase: Which one is found in the liver? Which one has high capacity and low affinity? |
|
Definition
|
|
Term
| What 4 processes is NADPH utilized in? |
|
Definition
1. Anabolic (steroids, FA synthesis)
2. Respiratory burst (phagolysosomes)
3. P-450
4. Glutathione reductase |
|
|
Term
| What enzyme results in feedback inhibition of hexokinase? |
|
Definition
|
|
Term
| Which glycolytic enzyme deficiency is the most common cause of hemolytic anemia? |
|
Definition
|
|
Term
| What are the 5 required cofactors of the pyruvate dehydrogenase complex (and alpha-ketoglutarate)? |
|
Definition
| "TLC For None"...TPP, Lipoic acid, CoA, FAD, NAD |
|
|
Term
| Which component of the pyruvate dehydrogenase complex is inhibited by arsenic? |
|
Definition
|
|
Term
| What are the only 2 purely ketogenic amino acids? |
|
Definition
|
|
Term
| What are the 4 irreversible enzymes of glucogeogenesis? |
|
Definition
| "Pathway Produces Fresh Glucose"...Pyruvate carboxylase, PEP carboxykinase, Fructose-1,6-bisphosphatase, Glucose-6-phosphatase |
|
|
Term
| What is the rate limiting enzyme of the HMP shunt? |
|
Definition
| Glucose-6-P Dehydrogenase (G6PD) |
|
|
Term
| What is the inheritance pattern of G6PD? |
|
Definition
|
|
Term
| What are the 2 histological cell form clues that are associated w/ G6PD deficiency? |
|
Definition
| Heinz bodies and bite cells |
|
|
Term
| Fructose intolerance is a result of a deficiency of what enzyme? |
|
Definition
|
|
Term
| What is the deficient enzyme in fructosuria? |
|
Definition
|
|
Term
| What is the deficient enzyme in classic galactosemia? |
|
Definition
| galactose-1-phosphate UDP |
|
|
Term
| How are the disorders of fructose and galactose metabolism inherited? |
|
Definition
|
|
Term
| What are the 4 essential glucogenic amino acids? |
|
Definition
|
|
