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First Aid
Biochemistry
| Question | Answer |
|---|---|
| What are the fat soluble vitamins | A, D, E, K |
| What do fat soluble vitamins depend on for absorption | pancreatic enzymes and ileum |
| Which vitamin is Thiamine | B1 |
| Which vitamin is Riboflavin | B2 |
| Which vitamin is Niacin | B3 |
| Which vitamin is Pantothenic acid | B5 |
| Which vitamin is Pyridoxine | B6 |
| Which vitamin is Cobalamin | B12 |
| What is B1(thiamine) used for | Thiamine Pyrophosphate (TPP) |
| What is TPP used for | Pentose Phosphate Pathway/HMP shunt (transketolase), oxidative decarboxylation of alpha-ketoacids |
| What are examples of alpha keto acids | pyruvate and alpha ketoglutarate |
| What is the clinical sign of wet beri beri | Dilated Cardiomyopathy, edema |
| What is the clinical sign of dry beri beri | polyneuritis, symmetrical muscle wasting (foot drop, wrist drop) |
| Which vitamin def. causes beri beri | B1 |
| What vitamin def causes Wernicke-Korsakoff | B1 |
| What causes Bitot's spots | Vit. A def (retinal spots) |
| What causes Cheilosis and Corneal vascularization | B2 def. |
| Which vitamin is used in FMN and FAD | B2 |
| Which vitamin is made from tryptophan | B3 (niacin) |
| B3 (niacin) requires what other vitamin for its synthesis | B6(pyridoxine) |
| What causes Pellegra | B3 def. |
| What is Pellegra symtoms | 3 D's (diarrhea, dementia, Dermatitis) |
| What vitamin is used in to make NAD | B3 (niacin) |
| How many ATP do you get from NADH and FADH2 | FADH2- 2 NADH-3 |
| What is hartnup dz | decreased tryptophan absorption |
| patient has malignant carcinoid syndrome what vitamin def. are they at risk for and why | B3 because this dz causes increased tryptophan metabolism and tryptophan is used in B3 synthesis |
| What vitamin def. is a/w Isoniazid | B6 is reduced but this also causes B3 reduction since B6 is used to make B3. |
| Which vitamin is used in CoA | B5 |
| What vitamin def causes dermatitis, enteritis, alopecia, adrenal insuff. | B5 |
| What vitamine causes Convulsions, hyperirritability and peripheral neuropahthy | B6 |
| What drugs inhibit B6 | Isonizad and Oral Contraceptives |
| What vitamin is used to make Pyridoxal Phosphate | B6 |
| What is pyridozal phosphate used for | transamination decarboxylation Rxs ( e.g. ALT and AST) |
| Which vitamin is required for heme synthesis | B6 (pyridoxine) |
| Which vitamin causes Macrocytic/Megaloblastic anemia | B12(cobalamin) and Folic Acid |
| What does B12 do | required in Homocysteine methylation to Methionine and also in Methylmalonyl CoA to succinyl-Coa rx |
| What is wrong if methionine is decreased and methylmalonic acid is increased | B12 def |
| What is the schilling test for | B12 def. |
| What vitamin def is a/w diphyllobathrium latum | B12(cobalamin) |
| what vitamin requires intrinsic factor | B12 (cobalamin) |
| Which vitamin absorption is inhibited due to Crohn's Dz | B12 (cobalamin) |
| Where is intrinsic factor made | gastric parietal glands |
| Where is B12 (cobalamin) absorbed what does it require | absorbed in terminal ileum and requires intrinsic factor |
| what is pernicious anemia | lack of intrinsic factor leading to def of Vitamin B12 causing a megaloblastic/macrocytic anemia |
| What is the most common vit def in the US | folic acid |
| what vitamin def is a/w neurological symptoms (optical, paresthesia) | B12 |
| What vitamin is a/w Neural Tube Defects | Folic acid |
| Where does folate come from in diet | Green leafy vegetables |
| Where does b12 come from in diet | meats |
| what is B12 used for in body | methylates homocysteine to methionine for DNA/RNA synthesis |
| What vitamin def is a/e raw egg ingestion and why | Biotin, gets bound by avidin in egg whites |
| what is biotin used for | pryuvate ->OAA; ACetyl CoA->Malonyl Coa; Propionyl Coa-> methylmalonyl CoA (carboxylation Rxs) |
| What dz presents with swollen gums, brusing, anemia, and poor wound healing | scurvy (vit. C def.) |
| what vit is used for proline and lysine hydroxylation | vit. C |
| how does vit. C effect Iron | facilitates absorption by keeping it in Fe2+ (ferrous) state |
| which vitamin is required for dopamine-> NE | Vit. C |
| What vitamin is needed for Beta-hydroxylase, what does this enzyme do | Vit. C, converts dopamine to Norepinephrine |
| What is ergocalcigerol | D2 (form of Vit. D in Milk) |
| What is Cholecalciferol | D3 (form of Vit. D from sun exposure) |
| What vit. excess is a/w sarcoidosis and why | Vit. D, epitheloid macrophages have 1-alpha hydroxylase and these convert Vit. D to active form |
| what is the storage form of Vit D. | 25-OH D3 |
| what is tocopherol | Vit E |
| What vit def. is a/w erythrocyte fragility | Vit. E |
| What does Vit E do | antioxidant and protects RBCs from hemolysis |
| What is phylloquinone, menaquinone or menadione | Vit. K |
| which coag. factors are vit. K dependent | II, VII, IX, X |
| What drug inhibits Vit. K formation | warfarin (inhibits epoxide) |
| What does Vit. K do | gamma-carboxylates glutamic acid residues on proteins (coag. factors in liver) |
| Which vit are neonates given at birth to prevent hemorrhage | K |
| What mineral def. is a/w delayed wound healing | Zinc |
| pt presents with hypogonadism and decreased pubertal hair what def are you thinking | zinc |
| What does disulfiram do | inhibits acetaldehyde DeHase, used in ETOHism, causes hangover symptoms |
| What does Fomepizole do | inhibits alcohol DeHASE, used in ETOHism |
| what is the limiting reagent in ethanol metabolism (choices | FAD, NAD, Ethanol, ATP) |
| What two products are made from ethanol metabolism | first you get acetaldehyde which then gets converted to acetate |
| what two enzymes are used in ETOH metabolism | alcohol DeHASE and Acetaldehyde DeHASE |
| Where does the alcohol DeHASE rx occur | cytoplasm |
| where does the Acetaldehyde DeHASE rx occur | mitochondria |
| What type of half life kinetics does Alcohol DeHASE follow | zero order kinetics |
| Why does ethanol cause hypoglycemia | ETOH metabolism causes NADH production, this causes pyruvate-> lactate and OAA->malate and thus inhibits gluconeogenesis. |
| What causes fatty liver change (heppatocellular steatosis) in chronic alcoholics | increased NADH production from ETOH metabolism-> less glycolysis and more fatty acid synthesis |
| How can you tell the difference between Kwashiorkor and marasmus | Kwash has edema from protein def. see a child with swollen belly. Marasmus is muscle wasting and loss of fat due to calorie def. diet |
| What are the subunits of of a histone octomer | H2a, H2b, H3 and H4 (all x2) |
| which histone subunit is not in the octomer, where is it? | H1 linker protein between octomers |
| what is a nucleosome | octomer of histone subunits |
| what is difference between heterochromatin and euchromatin (which is condense and which is transcriptionally active) | hetero is condense and inactive, Euch is less condense and active |
| what is the difference btw nucleotides and nucleosides | tides(base+ribose+phosphate) side(base+ribose) |
| which AA's are required for DNA base sythesis | GAG (gylcine, aspartate, glutamine) |
| What bond is used in DNA backbones | 3'-5' phosphodiester bonds |
| which DNA bases use double bonds? Triple Bonds? | Double (A |
| What is ribonucleotide reductase | converts ribonucleotides into deoxyribonucleotides |
| Deamination of which nucleotide base makes uracil | Cytosine |
| Which nucleotide bases have double rings | A,G |
| Which nucleotide bases have single rings | C, U, T |
| What are made from IMP precursors | purines |
| Wahat are made from orotate precursors | pyrimidines |
| What is transition vs. transversion | sition is purine for purine or pyrimidine for pryimidine, version is purine for pyrimidine |
| What is the start codon | AUG |
| What does the start codon encode for | Methionine |
| what is missense mutation | changed AA |
| What is nonsense mutation | early stop codon made |
| What is meant by degenerage coding | when 1 amino acid has multiple codons |
| which amino acid is not degenerate | methionine (AUG only) |
| What does DNA polymerase III do | most of the work in DNA replication except gap filling and RNA primer removal |
| What does DNA polymerase I do | Gap filling and RNA primer removal in DNA replication |
| Which DNA polymerases work in DNA replication | I and III |
| What is DNA gyrase | type of topoisomerase in prokaryotics. |
| what drug inhibits DNA gyrase | fluotoquinolones |
| Which direction is DNA synthesized | 5' -> 3' |
| Which RNA is the longest? Most abundant? Smallest? | mRNA-longest (Massive), rRNA- abundant (Rampant), tRNA- smallest (tiny) |
| which end is the triphosphate? hydroxsyl group? (in DNA) | triphos is 5' and hydroxsyl is 3' |
| which direction is protein synthesis | N to C |
| Compare Nucleotide excision and base excision repair for DNA | nucleotide is when an endonuclease removes a segment of damaged DNA and then polymerase fills gap. Base excision is when a glycosylase removes a single base only leaving behind the sugar and phosphate, this is followed by endonuclease removal of the remai |
| How does mismatch repair work | uses unmethylated strand to know daughter strand, checks it for mismatches, removes them and fills the gap. |
| what is nonhomolougous end joining | repair mechanism that allows two separated doubled stranded pieces of DNA to be rejoined, even without homology. |
| What are the stop codons | UGA, UAA, UAG |
| What does AUG code for in prokaryotes? Eukaryotes? | Pro formyl-methionine(f-met) Euk methionine |
| What is the difference btw a promoter and enhancer site on DNA | Promoter are where RNA polymerase and other transcription factors bind close to transcription initiation site, usually in form of TATA box or CAAT box. Enhancer are also located on DNA near gene of interest but these increase the level of transcription ra |
| What is a cis and trans acting element | cis is on the DNA so enhancer regions, trans are away from the DNA strand so any transcription factors are examples. |
| How does the lac operon work, which organism is it mainly found in | e.coli, it is a series of genes in a row that encode proteins that metabolize lactose, but the gene requires lactose to bind and inhibit the transcription inhibitor before transcription can start. |
| Which RNA polymerase makes each type of RNA in eukaryotes and prokaryotes | eukaryotes - rRNA I, mRNA II, tRNA III prokaryotes- all polmerases make all 3 kinds of RNA. |
| alpha amanintin inhibits which RNA polymerase | II |
| where is alpha amanintin found | death cap mushrooms |
| T or F, RNA polymerase has proof reading capabilities | false |
| What processing occurs to RNA after its formed in eukaryotes | 5' G Cap and 3' Poly "A" tail and intron splicing |
| what is heterogeneous nuclear RNA (hnRNA) | RNA before it is processed by nucleus (before tail and cap) |
| What is the significance of AAUAAA | part of 3' end that signals for poly "A" tail to be placed on that end of RNA |
| what enzyme adds the poly "A" tail to RNA | poly-A polymerase |
| What proteins are used to splice out an intron | snRNPs form a spliceosome |
| How are tRNA's charged with A.A.'s | use the enzyme aminoacyl-tRNA synthetase which requires ATP and verifies correct A.A. |
| What happens if tRNA is charged with wrong A.A. | anticodon will still bind proper spot leading to misplaced A.A. (missense mutation) |
| How many aminoacyl-tRNA synthetases are there per A.A. | just 1 |
| What is meant by tRNA wobble | only first two nucleotides in codon need to match to get the right A.A. |
| which ribosome subunits are found in eukaryotes | 80S (60S + 40S) |
| Which ribosome subunits are found in prokaryotes | 70S (50S + 30S) |
| How is protein synthesis initiated | GTP is used along with eLFs (initiation factors) to assemble the 40S ribosome. The 40S subunit has initiator tRNA already bound (methionine in P site), which when mRNA binds gets removed. |
| Which ribosomal site (E,P,A) does methionine get bound initially in translation | P site |
| what enzyme cataylzes the peptide bond formation in translations | peptidyltransferase |
| What happens in the ribosome A site | where new tRNA binds mRNA codon |
| What happens in the ribosome P site | where growing polypeptide is kept |
| What happens in the ribosome E site | where the empty tRNA gets relased. |
| What role does GTP play in translation | causes translocation from A->P->E sites |
| how many ATPs are needed to charge the tRNA | 2 |
| how many ATPs/GTPs are needed for translation of 2 codons | 4 (2 ATP for charging tRNA, 1 GTP for initiation, 1 GTP for translocation) |
| What happens in S phase and G phase of cell cycle | S is synthesis and G is growth or gap |
| What is the amount of DNA (ploidy) of each cell cycle phase (G1, G2, S, Mitosis) | G1 2N, S 3N, G2 and mitosis 4N |
| what cell cycle stages comprise interphase | G1, S, G2 |
| What controls the cell cycle | proteins called CDKs and cyclins. |
| How do CDKs and cyclins work | cyclin are activated during certain phases of cell cycle, they bind and activate always present CDKs for their kinase activity. |
| which CDKs and Cyclins are present during which cell cycle phases (g1, S, G2, M) | G1-cyc D, CDK2, 4, 6 S- cyc E, A CDK 2 G2- cyc A, E CDK 2 M- cyc B CDK1 |
| what are permanent cells and examples | always stay in G0, regenerate from stem cells (neurons, skeletal and cardiac muscle cells, RBCs) |
| what are stable (quiescent) cells, and examples | enter G1 from G0 when stimulated (hepatocytes and lymphocytes) |
| what are labile cells and examples | never go to G0, divide rapidly with a short G1 (bone marrow, gut epithelium, skin, hair) |
| What is a nissl body, where can they be found, what do they make | RER found in neurons and make NTs and enzymes(ChAT) |
| What happens at the smooth ER | steroid synthesis and detox of drugs and poisons. |
| What role does mannose-6-phosphate play in the golgi | when added to proteins it targets it for the lysosome |
| which A.A. does the golgi add O-oligiosaccharides to | serine and threonine residues in proteins |
| which A.A. does the golgi modify N-oligiosaccharides | asparagine |
| what is I-cell dz | inability to put mannose-6-phosphate onto lysosomal enzymes in golgi, leading to those enzymes to extracellular space. |
| Pt presents with coarse facial features, clouded corneas, restricted joint movement and high plasma levels of lysosomal enzymes, what do they have | I-cell dz or mucolipidosis II. |
| What is COP I and COP II | proteins put on trafficking vesicles. I causes retrograde transport from cis-Golgi to RER, II causes transfer from RER to cis-Golgi |
| What is the order of the parts of the golgi apparatus (layers) | Cis Golgi Network (closest to RER), cis, medial, trans, Trans golgi network (closest to cell membrane) |
| When clathrin is added to vesicles in the cell where does it transport them to | trans-Golgi -> lysosomes or plasma membrane -> endosomes (receptor mediated endocytosis) |
| What are the subunits of microtubules | alpha and beta tubulin dimers |
| each dimer of a microtubule has 2 __?__ attached to it? | GTP |
| where are microtubules used | mitotic spindles, cilia, flagella, slow axoplasmic transport in neurons. |
| Describe the structure of cilia | 9 + 2 arrangement of microtubules. Use Dynein and Kinesin for movement |
| What is Dynein | causes sliding of microtubules in cilia and flagella towards the negative end of the microtubule.(is actually an ATPase) |
| What is Kinesin | causes sliding of microtubules in cilia and flagella towards the positive end of the microtubule |
| What is Kartagener's Syndrome | immotile cilia due to dynein arm defect. Causes infertility (immotile sperm), bronchiectasis and recurrent sinusitis (can't get bacteria out of system). |
| What syndrome is a/w situs inversus | kartagener's syndrome |
| what molecules are responsible for cytokinesis | actin/myosin |
| what molecules are responsible for microvilli formation | actin/myosin |
| how does a long saturated fatty acid content of the cell membrane effect membrane fluidity | decreases it |
| what is dipalmitoyl phosphatidylcholine (DPPC) | surfactant |
| If we stain for desmin what does it show us | muscle |
| if we stain for vimentin what does it show us | connective tissue |
| if we stain for cytokeratin what does it show us | epithelial cells |
| if we stain for GFAP(glial fibrillary acid proteins) what does it show us | neuroglia |
| How much Na and K are exchanged with Na/K pump | 3 Na+ out 2 K+ in |
| what drug inhibits Na/K exchanger | Ouabain (binds to K+ site), Glycosides (digoxin, digitoxin) |
| What are the effects of Cardiac Glycosides | inhibit Na/K pump which increases cardiac contractility |
| What is the most abundant protein in the human body | Collagen |
| WHich type of collagen makes up 90% of all collagen | I |
| Where do we find type I, II, III and IV collagen | I-bone, tendons, skin, cornea; II- Cartilage (hyaline), nucleus pulposus, vitreous body; III- skin, blood vessels, uterus, fetal and granulation tissue; IV- Basement membranes |
| What are the steps in collagen formation | translate mRNA to make alpha chains of preprocollagen -> hydroxylation of proline and lysine - glycosylation of alpha chain which makes procollagen (triple helix)-> exocytosis of procollagen leaves fibroblast-> terminal ends cleaved which makes tropocolla |
| what does hydroxylation of proline and lysine require | vit C |
| What type of collagen is mostly effected with ehlers-danlos | III |
| pt presents with hyperextensible skin, bleeding tendency (easy bruising), and hypermoble joints, what does he have | Ehlor-Danlos syndrome |
| Elher's Danlos is a/w what secondary complication | berry aneurysms |
| Patient presents with blue sclerae, what is this, what causes it | osteogenesis imperfectacauses abnormal type I collagen-> translucent CT over chroid |
| Pt presents with multiple fractures, blue sclerae, hearing loss and dental imperfections what do they have | osteogenesis imperfecta |
| Why do Osteogenesis Imperfecta cause hearing loss | abnormal middle ear bone |
| What enzyme inhibits elastase | Alpha 1 antitrypsin |
| What A.A. are rich in elastin | proline and glycine |
| What holds elastin in a scaffolding | fibrillin |
| Alpha 1 antitrypsin deficieny cause what dz | emphysema |
| Where does fatty acid oxidation take place(part of cell) | mitochondria |
| Where does acetyl CoA production take place(part of cell) | mitochondria |
| Where does the Krebs cycle take place(part of cell) | mitochondria |
| Where does oxidative phosphorylation take place(part of cell) | mitochondria |
| Where does glycolysis take place (part of cell) | cytoplasm |
| Where does fatty acid synthesis take place (part of cell) | cytoplasm |
| Where does Pentose pathway take place (part of cell) | cytoplasm |
| Where does steroid synthesis take place (part of cell) | SER/Cytoplasm |
| Where does Heme synthesis take place (part of cell) | mitochondria and cytoplasm |
| Where does the Urea cycle take place (part of cell) | mitochondria and cytoplasm |
| Where does gluconeogenesis take place (part of cell) | mitochondria and cytoplasm |
| What is the rate limiting enzyme in de novo pyrimidine synthesis | Aspartate transcarbamylase (ATCase) |
| What is the rate limiting enzyme in de novo purine synthesis | Glutamine-PRPP amidotransferase |
| What is the rate limiting enzyme in glycolysis | Phosphofructokinase-1 (PFK-1) |
| What is the rate limiting enzyme in Gluconeogenesis | fructose 1,6-bisphosphate (FBP-1) |
| What is the rate limiting enzyme in TCA cycle | isocitrate dehydrogenase |
| What is the rate limiting enzyme in glycogen synthesis | glycogen synthase |
| What is the rate limiting enzyme in glycogenolysis | glycogen phosphorylase |
| What is the rate limiting enzyme in the HMP shunt | glucose-6-phosphate deHASE (G6PD) |
| What is the rate limiting enzyme in Fatty acid synthesis | acetyl CoA carboxylase (ACC) |
| What is the rate limiting enzyme in Fatty acid oxidation | Carnitine acyltransferase I |
| What is the rate limiting enzyme in Ketogenesis | MHG-COA synthase |
| What is the rate limiting enzyme in Cholesterol syntheis | HMG-CoA reductase |
| What is the rate limiting enzyme Heme synthesis | ALA synthase |
| What is the rate limiting enzyme in the urea cycle | carbamoly phosphase synthase I |
| during dieting where does glucose come from | 80% glycerol from triglyceride/fat break down |
| during starvation where does glucose come from | 80% A.A. degradation |
| How many ATP are made per glucose during anaerobic glycolysis | 2 |
| What sugar makes up ATP | ribose |
| How many ATP are produced via malate-aspartate shuttle in aerobic metabolism | 32 |
| How many ATP are produced via glycerol-3-phosphate shuttle during aerobic metabolism | 30 |
| which cell types do we find the malate-aspartate shuttle | heart and liver |
| which cell types do we find the glycerol-3-phosphate shuttle | muscle |
| What molecule does biotin transport/carry | CO2 |
| What molecule carries 1-carbon units | tetrahydrofolates |
| What does SAM do | carries CH3 groups |
| What does TPP do | carries aldehydes |
| how is SAM made | ATP + methionine |
| regeneration of methionine and SAM are dependent on? | vit. B12 and folate |
| what drug inhibits dihydrofolate reductase | methotrexate |
| what does dihydrofolate reductase do | converts dihydrofolate to tetrahydrofolate |
| what are the universal electron acceptors | NAD+, NADP+, FAD+ |
| what makes NADPH | Pentose phosphate pathway |
| what processes use NADPH | Anabolic (steroid/fatty acid synthesis), respiratory burst, and p-450 |
| what type of processes use NAD+ | catabolic |
| what are the steps of o2 dep. respiratory burst | O2 -> O2 radical->H2O2->HOCl radical-> destroy bacteria |
| what is used to convert O2 to O2 radical in the respiratory burst(oxidative) | NADPH/ NADPH oxidase |
| what dz has a def. of NADPH oxidase | chronic granulomatous dz |
| what dz gives a negative nitroblue-tetrazolium test | Chronic granulomatous dz |
| what unique organisms are a/w chronic granulomatous dz | serrtia, aspergillus |
| what happens to extra H2O2 from oxidative burst | gets reduced to water by catalase/glutathione peroxidase using glutathione |
| what enzyme catylzes O2 radical to H2O2 | superoxide dismutase |
| what enzyme catylzes H2O2 to HOCL radical | myeloperoxidase |
| what is HOCl radical A.K.A? | bleach |
| where is hexokinase found compared to glucokinase | hexo-everywhere but the liver, gluco- liver and beta cells of pancreas |
| compare the Km and Vmax for hexokinase and glucokinase | hexo- low Km and low Vmax (binds a lot but works slowly) gluco- high Km and high Vmax (binds little but works fast) |
| what does hexokinase and glucokinase do | makes glucose6-phosphate from glucose |
| what is the purpose of hexokinase and glucokinase | hexo- keeps glucose in cell for glycolysis, gluco- sequesters extra glucose in liver after meals. |
| which enzyme is induced by insulin (hexokinase or glucokinase)? Uninduced? | hexo-uninduced, gluco-induced |
| What are the net products of glycolysis | 2 pyruvate + 2 ATP + 2 NADH + 2[H+] + 2[H2O] |
| which two steps of glycolysis require ATP | hexo/glucokinase and PFK-1 |
| what reaction does PFK-1 catylze | Fructose 6-P to fructose 1,6 bisPhosphate |
| which of the follow inhibits PFK-1? Stimulates? (ATP, AMP, citrate, Fructose-2,6BP, alanine, NADH, Acetyl CoA) | inhibits- ATP, citrate stimulates-AMP, fructose-2,6BP (everything else has no effect) |
| Which steps of glycolysis produce ATP | Phopshoglycerate Kinase and pyruvate kinase |
| what does phosphoglycerate kinase do | catylzes 1,3-BPG to 3-PG (phosphoglycerate) |
| what does pyruvate kinase do | converts phosphoenolpyruvate(PEP) to pyruvate |
| what enzyme converts pyruvate to acetyle CoA | pyruvate deHASE |
| what inhibits pyruvate kinase | ATP and Alanine |
| what stimulates pyruvate kinase | fructose 1,6-BP |
| what inhibits pyruvate deHASE | ATP, NADH, and acetyl-CoA |
| what type of enzyme is required to reverse the ATP steps of glycolysis during gluconeogenesis | phosphatases |
| what is the most common glycolytic enzyme def. | pyruvate kinase |
| what is the consequence of having a glycolytic enzyme def. | hemolytic anemia from decreased Na/K pump activity causing lysis of RBCs. |
| Why are RBCs most vulnerable to glycolytic problems | no mitochondria and therefore can only use glycolysis. |
| what is PFK-2 | enzyme that makes fructose 2,6 bisphosphate from fructose 6-phosphate. This enzyme is active in fed states but in fasting states it acts in reverse as a phophatase and helps with gluconeogenesis. |
| what are the 5 required cofactors of pyruvate deHASE | the first four B vitamins(B1-TPP, B2-FAD, B3-NAD, B5-CoA) and lipoic acid |
| what is the reaction of pyruvate deHASE | pyruvate + [NAD+] + CoA-> acetyle CoA + NADH + Co2 |
| what stimulates pyruvate deHASE | exercise (causes increased ADP , Ca2+, and NAD/NADH ratio) |
| what inhibits lipoic acid | arsenic |
| pt presents with vomiting, rice water stools and garlic breath, what might be the source of their poisoning | arsenic |
| what other enzyme complex is similar to pyrivate deHASE | alpha-ketoglutarate |
| What typically causes pyruvate deHASE def. | congenital or ETOH->B1 def. |
| what are the only purely ketogenic amino acids | lysine and leucine |
| what is the result of pyruvate deHASE def. | backup of substrate(pyruvate/alanine) leading to lactic acidosis |
| Where does alanine act as a substrate in glucose metabolism | can be a substrate for pyruvate deHASE |
| where does alanine come from when its used as a substrate for metabolism | muscle-> liver |
| what enzyme catylzes pyruvate to OAA | pyruvate carboxylase |
| what converts pyruvate to lactate | lactate deHASE |
| what is required to convert pyruvate to lactate | NADH (which occurs with ETOHism) |
| what is the cori cycle | allows lactate to made during anaerobic metabolism to undergo liver gluconeogenesis to supply muscles/RBCs |
| how does the cori cycle work | lactate from muscle enters liver, lactate deHASE converts it to pyruvate which can enter gluconeogenesis to make glucose that goes back to muscles/RBCs and makes more lactate. |
| How much ATP is required for the Cori cycle | 4 ATP (net loss) |
| what cofactors does alpha ketoglutarate require for its reaction | B1, B2, B3, B5 and lipoic acid. |
| what are the products of the Kreb cycle | Acetyl-Coa-> Citrate-> Isocitrate-> alpha-ketoglutarate-> succinyl CoA-> succinate-> fumerate-> malate-> OAA |
| what are the end products of the Kreb Cycle | 3 NADH, 1 FADH2, 2 Co2, 1 GTP |
| Which step in Krebs makes GTP | succinyl-CoA-> succninate |
| which step in Krebs makes NADH | isocitrate deHASE alpha-KG deHASE, malate deHASE |
| which step in Krebs makes FADH2 | succinate to Fumarate |
| what is complex II in the electron transport chain | succinate deHASE |
| where is the proton gradient formed in Electron Transport Chain | cytoplasm side of inner mitochondrial membrane |
| What carries electrons from complex I and II to complex III in the electron transport chain | Coenzyme Q |
| what is complex III in the electron transport chain | cytochrome b/c |
| what happens at complex IV in the electron transport chain | o2 is reduced to water |
| how many ATPs are made from NADH? FADH2? | NADH-3ATP FADH2- 2ATP |
| what molecules inhibit complex I, IV, and ATPase | I-rotenone and barbituates, II-CO, CN-, azide ATPase- oligiomycin |
| What does 2,4-Dinitrophenol do to the electron transport chain | decouples it, making inner membrane permeable to H+ causing gradient to decrease, no ATP made but electron chain still works and O2 consumption increases. |
| What effect does aspirin have on the electron transport chain | decouples it, making inner membrane permeable to H+ causing gradient to decrease, no ATP made but electron chain still works and O2 consumption increases. |
| What is complex V in the electron transport chain | ATPase |
| what is thermogenin | a decoupler of the electron transport chain, destroying the proton gradient but not stopping the chain. This only works in brown fat. |
| At what point does glycolysis/Kreb Cycle enters the mitochondria, How? | pyruvate, but also OAA gets made into malate that uses malate shuttle and is converted back to OAA |
| which steps of gluconeogenesis require separate enzymes from glycolysis | pyruvate carboxylase (pyruvate -->OAA), PEP carboxykinase (OAA-->PEP), Fructose 1,6-Bisphosphatase (Fruct1,6BP-->Fruct 6-P), Glucose 6-Phosphatase (Glucose6P--> glucose) |
| which gluconeogenesis enzyme require GTP | PEP carboxykinase |
| what does pyruvate carboxylase require to run reaction | biotin, ATP and pyruvate |
| where are the gluconeogenesis enzymes found (which cell types) | liver, kidney, intestinal epithelium |
| T or F, muscle can participate in gluconeogenesis? | F |
| T or F, def. of gluconeogenesis causes hypogylcemia | T |
| T or F, even chained Fatty acids can metabolize and enter gluconeogenesis? Odd chained? | Only odd, it forms propionyl-CoA where as even chains make only acetyl-CoA which can't participate in gluconeogenesis |
| What is the purpose of the pentose phosphate pathway | makes NADPH (used in F.A. sythesis and glutathione reducation in RBCs) |
| T or F, the pentose phosphate pathway requires ATP | F |
| how does pentose phosphate pathway work? | Two parts(oxidative and nonoxidative) oxidative: glucose 6-P is added to NADP+ and the enzyme G6PD and some other steps make NADPH and ribose 5-P. The ribose can go onto the nonoxidative part or it can go directly to nucleotide synthesis. Nonoxidative: ri |
| What cofactor is needed for transketolases to work | B1 (thiamine) |
| what type of inheritance pattern is seen with G6PD def. | x-linked recessive |
| what type of alterations to RBCs are seen with G6PD def. | Heinz bodies and Bites cells |
| what are heinz bodies, when are they seen? | clumping of hemoglobin, seen in G6PD and sometimes in thalassemias |
| What are bite cells, when are they seen | when phagocytes "bite" a chunk out of RBCs to remove Heinz bodies, seen in G6PD |
| what things set off G6PD attacks | anti-malaria and sulfonamide(antibiotics), fava beans, mothballs, anti-TB drugs. |
| What causes Fructose intolerance | def. of Aldolase B |
| What two enzymes are required for Fructose metabolism | Fructokinase and Aldolase B (fructose->Fructose-1-P --> DHAP and Glyceraldehyde) |
| where does Fructose enter glycolysis? | DHAP or glyceraldehyde 3-P |
| What is essential fructosuria | defect in fructokinase which inhibits its metabolism so it enters blood and urine, but is beign condition. |
| Where is lactase found | brush border of intestine |
| signs of lactase def. | bloating, cramps, diarrhea(osmostic) |
| What causes galactosemia | absence of galactose-1-phosphate uridyltransferase. |
| Why is galactosemia more severe than fructose in blood? | excess galactose forms toxic metabolites (galactitol) |
| what enzymes are required for galactose metabolism | galactokinase and uridyl transferase (galactose--> galactose 1-P --> glucose 1-P) |
| what sugars make up lactose | galactose and glucose |
| which step of galactose and fructose metabolism require ATP | fructokinase and galactokinase. |
| Patient presents with cataracts, hepatosplenomegaly, mental retardation, and elevated galacititol, what is wrong | galactose-1-P uridyl transferase def. |
| What step of the electron transport chain does antimycin A inhibit | complex III |
| What are the essential amino acids | phenylalanine, Valine, tryptophan, threonine, isoleucine, methionine, histidine, arginine, leucine, lysine (PVT TIM HALL) |
| which essential A.A.'s are purely glucogenic | Methionine, Histidine, arginine, valine |
| which essential A.A.'s are both glucogenic and ketogenic | Isoleucine, phenylalanine, tryptophan, threonine. |
| what two molecules does the body use to transport ammonia to the liver for urea cycle | alanine and glutamate |
| how does the body transport ammonia to the liver for urea cycle | deaminase reactions that transfer NH3 group from A.A. to alpha keto-glutarate or pyruvate which make glutamate or alanine, respectively. These then travel to the liver, lose the amino group the urea cycle and then recycle. |
| most common def. of the urea cycle | ornithine transcarbamoylase |
| what does def. of ornithine transcarbamoylase cause | hyperammonemia leading to tremor, asteraxis, vomiting, blurring of vision and inihibits the TCA cycle |
| patient presents with asteraxis, vomiting, cerebral edema, blurring of vision, and tremor, what might be wrong | ornithine transcarbamoylase def. and hyperammonemia |
| what is the treatment of hyperammonemia | benzoate or phenylbutyrate |
| how does the urea cycle work | NH4 plus CO2 --> carbamoyl phosphate--> citrulline--> argininosuccinate--> fumarate or arginine--> urea--> ornithine |
| what amino acid adds an ammonia group during the urea cycle to make urea | aspartate |
| what TCA metabolites can be formeed during the urea cycle | fumarate |
| What amino acid is used to make tyrosine | phenylalanine |
| what is made from tyrosine | Dopa--> dopamine--> NE--> Epi |
| what amino acid is used to make throxine | tyrosine |
| what amino acid is used to make melanin | tyrosine, dervived from dopa |
| what amino acid is used to make niacin | tryptophan |
| what amino acid is used to make serotonin | tryptophan |
| what amino acid is used to make melatonin | tryptophan, derived from serotonin |
| what amino acid makes histamine | histidine |
| what amino acid makes porphyrin | glycine |
| what amino acid is used to make creatine | arginine |
| what aminoacid is used to make urea | arginine |
| what amino acid is used to make nitric oxide | arginine |
| what amino acid is used to make GABA | glutamate |
| what amino acid is used to make glutathione | glutamate |
| what is phenylketonuria | when the body lacks phenylalanine hydroxylase or tetrahydrobiopterin cofactor and it can't convert phenylalanine to tyrosine. This makes tyrosine essential and leads to phenylalanine buildup and loss in urine. |
| pt presents with musty body odor, eczema, retardation, what do they have | phenyletonuria(PKU). |
| why do pts with PKU have musty odor | build up of phenylketones which are aromatics and have odor. |
| what is the treatment for pKU | decrease phenylalanine and increase tyrosine in diet. |
| where is phenylalanine found in the diet | artificial sweetners (aspartame) |
| What is alkaptonuria | def. of homogentisic acid oxidase, which is used to degrade tyrosine. This causes alkapton bodies to building up and causes urine to turn black. |
| pt presents with urine that turns black upon standing, debilitating arthralgias, and dark connective tissue | alkaptonuria |
| what causes albinism | inability to make melanin |
| why can't the body make melanin during albinism | lack of tyrosinase, defective tyrosine transporters, lack of neural crest cell migration |
| what is homocystinuria | inability to metabolize homocystine leading to its accumulation and making cysteine essential. |
| what are the possible causes of homocystinuria | lack of cystathionine synthase(converts it to cysteine), decreased affinity of cystathionine synthase for B6, homocysteine methyltransferase def.(converts it to methionine) |
| treatment for homocystunuria | decrease methionine and increase cysteine and B12 in diet. |
| what causes cystinuria? | defective transporter in PCT of kidney |
| the transporter that is defective in cystinuria also transport what substances in the kidney PCT | ornithine, lysine, and arginine. |
| What is the consequence of cystinuria | cystine kidney stones |
| Treatment for cystinuria? MOA? | acetoazolaminde to alkalinize the urine. |
| what causes maple syrup urine dz | lack of slpha ketoacid deHASE which metabolizes Isoleucine, leucine, and valine. |
| what are the consequences of maple syrup urine dz | maple syrup smelling urine(duh), CNS defects, retardation and death. |
| what is lesch-nyhan syndrome | absence of HGPRT resulting in excess uric acid-->gout, retardation, self-mutilation, choreoathetosis |
| pt presents with gout, retardation, self-mutilation, choreoathetosis | Lesch-Nyhan syndrome (def. of HGPRT) |
| what causes SCID | adenosine deaminase def. |
| what is SCID | severe combined immunodeficiency, lack of T and B cells |
| what are the steps of purine degradation | Purine-> Inosinic ACcid-> inosine-> hypoxanthine-> xanthine-> uric acid |
| what enzyme converts hypoaxnathine to xanthine to uric acid | xanthine oxidase |
| what drug inhibits xanthine oxidase | allopurinol |
| what enzyme converts purines to phosphoribosyl pyrophosphate | PRPP |
| what enzyme converts pures to their acid form | HGPRT |
| 1 carbohydrate is equal to how much protein? kCal? | 1 g of protein and 4 kcals |
| 1 gram of fat is equal to how many kcals | 9 kcals |
| where is insulin made | Beta cells of pancreas |
| what stimulates insulin release from Beta cells | ATP made from glycolysis acting on ATP sensitive potassium channel, leading to depolarization and insulin release. |
| where are GLUT1 found | RBCs and brain |
| Where are GLUT2 found | Beta cells, liver, and kidney |
| Where are GLUT3 found | brain |
| where are GLUT4 found | adipose tissue, skeletal muscle |
| where are GLUT5 found | Fructose transport in gut epithelium |
| what is serum c-peptide | stored with insulin in beta cell granules and so act as a good measure of endogenous insulin in the blood stream because it is less effected by liver metabolism |
| which cells require insulin for glucose uptake | muscle and fat cells |
| what does insulin's structure look like | alpha and beta chain connected with disulfide bonds |
| how does insulin effect glycogen sythesis | increases it |
| how does insulin effect Na+ rentention in the kidneys | increase |
| how does insulin effect protein synthesis | increases |
| how does insulin effect K+ uptake in cells | increases |
| T or F, glycogen synthase is activated upon phosphorylation | false, inactivated |
| is glycogen synthase active during fed or fasting states, why? | fed, because activated by insulin and it wants to store excess glucose. |
| What molecules inactivate glycogen synthase | glucagon, epinephrine |
| True or False, glycogen phosphorylase is activated upon phosphorylation | true |
| what activates glycogen phosphorylase in muscle cells | AMP and epinephrine |
| what activates glycogen phosphorylase in liver cells | glucagon and epinephine |
| what deactivates glycogen phosphorylase in muscle cells | ATP and insulin |
| what deactivates glycogen phosphorylase in liver cells | insulin |
| what types of bonds are found in glycogen | alpha 1-4 glycosidic(long chains) and alpha 1-6 glycosidic (branches) |
| how is glycogen formed | glucose 6-P is converted to glucose 1-P that then forms UDP-glucose and combines with other glucose to make bonds. |
| How is glucose broken down | debranching enzmye removes 1-6 bonds, glycogen phosphorylase cleaves 1-4 bonds |
| what enzymes are used to make glycogen | UDP-glucose pyrophosphorylase makes UDP-glucose, glycogen synthase makes the 1-4 bonds, and branching enzyme makes the 1-6 bonds |
| what enzyme breaks down some glycogen via lysosomes | alpha 1-4 glucosidase |
| what are the 4 glycogen store dz's | Van Gierke's(I), Pompe's(II), Cori's(III), McArdle's (V) |
| which enzyme is def. in each glycogen storage dz | I- Glucose-6 Phosphotase, II- Lysosomal 1-4 glucosidase, III- Debranching enzyme, V- Skeletal muscle glycogen phosphorylase |
| Pt presents with severe hypoglycemia, and increased blood lactate levels and hepatomegaly, which storage dz does he have | I-Van Gierke's |
| Pt has cardiomegaly and liver dz, which glycogen storage dz does he have | II-pompe's |
| Pt has high fasting glucose, normal lactate levels and hepatomegaly, which storage dz does he have | III-Cori's |
| Pt has muscle cramps and myoglobinuria with exercise, which storage dz do they have | V-McArdles |
| how does fatty acid metabolism work | acetyl coa made from TCA has to get into cytoplasm of mitochondria(its formed in matrix), it uses the citrate shuttle where it gets converted to malonyl-CoA and then "polymerized" into fatty acids. |
| How does fatty acid degradation work | fatty acids broken down to acyl-CoA and uses the carnitine shuttle to get into matrix where beta oxidation occurs. where it made into acetyl coa groups to form ketone bodies or enter the TCA cycle. |
| what happens if we have carnitine def | inability to break down fatty acids leading to toxic accumulation |
| what happens if we have acyl-CoA deHASE def. | we have an increase in dicarboxylic acids and decreased ketones and glucose (messes up fatty acid degradation) |
| what metabolite inhibits the carnitine shuttle, why? | malonyl CoA, because it is a product of fatty acid synthesis and so if we have a lot of it we need to be making F.A. rather than breaking them down and the carnitine shuttle is part of the F.A. degradation pathway. |
| what are the two most common ketone bodies | acetoacetate and beta-hydroxbutyrate |
| where are ketone bodies used | brain and muscles |
| why do ketone bodies form | TCA cycle is stalled from lack of OAA either due to starvation(no glucose) or ETOH which converts it to malate, causing glucose and free F.A.s to make ketone bodies. |
| which ketone body is undetectable in urine | Beta-hydroxybutyrate |
| what does HMG-COA reductase do | converts HMG-CoA to mevalonate and is rate limiting step of cholesterol formation |
| T or F, 1/3 of plasma cholesterol is esterified by LCAT | F, 2/3 of it is |
| what are the essential fatty acids | linoleic and linolenic (arachidonic if linoleic is gone) |
| What does apo A1 do | activates LCAT |
| What does apo B-100 do | Binds LDL recepter, mediates VLDL secretion |
| What does apo B-48 do | mediates chylomicron secretion |
| What does apo E do | mediates liver uptake of LDL |
| what does apo C-II do | Cofactor for LPL |
| What does LCAT do | catalyzes esterification of Cholesterol |
| What does CTEP do | mediates transfer of cholesterol esters to other lipoprotein particles |
| What does Hormone sensitive lipase do | degradation of Trigylcerides stored in fat cells |
| What does Hepatic lipase do | degrades Trigylcerides in IDL |
| What does LPL do | removes Triglycerides from LDL and VLDL |
| what digestive enzyme is needed to digest triglycerides in small intestine | pancreatic lipase |
| which apolipoproteins are found on chylomicrons | pretty much all of them (B-48, C, A, and E) |
| pt presents with lipemia retinalis, pancreatitis, and eruptive xanthomas what's wrong | excess chylomicrons |
| what is lipemia retinalis | creamy apperance of blood vessels in retina during excess chylomicrons |
| which apo proteins are found on VLDL | B-100, C, and E |
| where do VLDL and chylomicrons pick up apo E and C | HDL |
| which type of lipoprotein causes atherosclerosis | LDL |
| what is type 1 dyslipidemia | hyperchylomicronemia (increased TG and Cholesterol) |
| What causes type i dyslipidemia | increased chylomicrons results from either def. LPL or no ApoC-II |
| What is type IIa dyslipidemia | hypercholesterolemia (increased LDL) |
| what causes type IIa dyslipidemia | increased LDL results from decreased LDL receptors |
| What is type IV dyslipidemia | hypertriglyceridemia (increased VLDL) |
| what causes type IV dyslipidemia | increased VLDL results from hepatic over production of VLDL or defective LPL |
| Lead poisoning causes what effect to heme synthesis | inhibition of ALA dehydratase and Ferrochelatase which are the first and last steps of heme proporphyrin synthesis |
| what are the steps of heme synthesis | Glycine + Succinate + B6-->porphobiliogen-> uroporphrinogen-> coproporphyrinogen-> protoporphyrin + Fe--> heme |
| Which step of heme synthesis is affected in AIP | Porpho-> Uroporphyrin |
| Which step of heme synthesis is affected in PCT | Uroporphyrin--> Copro |
| How can you tell the difference btw AIP and PCT | PCT has skin problems and tea colored urine. |
| Pt presents with increased uroporphyrin which dz does he have | PCT |
| what are the products of heme catabolism | Heme-> biliverdin-> bilirubin (bound to albumin and removed by liver.). Bilirubin is conjugated with glucuronate and excreted in bile. |
| Why are bruises blue-green in color | biliverdin |
| what is urobilinogen | an intestinal intermiediate of bilirubin that can be reabsorbed into blood and excreted as urobilin in urine giving it its yellow color. |
| patient presents with Abdominal pain, pink urine, polyneuropathy, psychological problems , what's wrong | porphria |
| Which lysosomal storage dz is x-linked | fabry's |
| which mucopolysaccharidoses is x-linked | hunter's |
| Excess ceramid trihexoside | Fabry's dz |
| excess glucocerebroside | gaucher's dz |
| most common lysosomal storage dz | gaucher's |
| excess sphinomylelin | niemann pick dz |
| excess GM2 ganglioside | Tay-Sachs dz |
| excess galactocerebroside | Krabbe's dz |
| excess cereborside sulfate | metachromatic leukodystrophy |
| def. of alpha galactosidases A | fabry's dz |
| def. of beta-glucocerebrosidase | Gaucher's dz |
| def. of sphingomyelinase | Niemann Pick dz |
| def. hexosaminidase A | Tay-Sachs |
| def. Galactocerebrosidase | Krabbe's dz |
| def. of Arylsulfatase A | metachromatic leukodystrophy |
| Excess Heparan Sulfate or dermatan sulfate | hurler's or hunter's |
| def. of alpha-L-iduronidase | hurler's |
| def. of iduronate sulfatase | hunter's |
| pt presents with gargoylism, airway obstruction, developmental delay | hurler's |
| pt presents with aggressive behavior, airway obstruction, developmental delay | hunter's |
| globoid cells | krabbe's dz |
| cherry-red spots, lysosomes with onion skin | tay-sachs |
| cherry-red spots, foam cells | niemann pick dz |
| macrophages that look like crumpled paper | gaucher cells/ gaucher dz |
| which lysosomal storage dz presents with aseptic necrosis if the femur | gauchers |
| which lysosomal storage dz presents with peripheral neuropathy, angiokeratomas and cardiac/renal dz | fabry's |
| which lysosomal storage dz presents with optic atrophy | krabbe's |
| which lysosomal storage dz presents with central and peripheral demyelination with ataxia and dementia | metachromatic leukodystrophy |
| which state of hemoglobin has high affinity for O2 | relaxed |
| which state of hemoglobin has low affinity for O2 | taut |
| Which of the follow favors T form of hemoglobin? R state? (increased Cl-, decreased H+, increased pH, Increased CO, decreased 2,3-BPG, decreased temperature) | T- increased Cl-, increased CO R- decreased H+, increased pH, decreased 2,3-BPG, decreased temp |
| which direction is the heme binding curve shifted if T form is favored | right |
| which direction is the heme binding curve shifted if R form is favored | left |
| what form is CO2 that is transported in blood that is not bound to hemogloblin | bicarbonate |
| where does CO2 bind on heme | N terminus amino acids (not to heme) |
| How does CO2 binding to heme affect O2 binding to heme | as CO2 binds it decreases the affinity for O2 (favors T state) |
| what is carboxyhemoglobin | form of hemoglobin bound to CO |
| during anemia which O2 stats change | oxygen content only, (sat. % and PO2 are unaffected) |
| what is PO2 | amount of O2 dissolved in blood, not bound to hemoglobin |
| if PO2 decreases how does that effect sat % of hemoglobin | decreases it, because there is less O2 to bind |
| what is methemoglobin | oxidized form of hemoglobin (Fe3+) which has lowered affinity for O2 |
| what is the treatment of methemoglobinemia | methylene blue |
| what is the treatment of cyanide poisoning, why? | first give nitrites to convert hemoglobin to methemoglobin which is much more likely to bind CN. Then give thiosulfate to bind CN on heme making thiocyanate that can be excreted by kidneys |
| what are the steps of PCR | DNA denatured->2 strands-> DNA primers bind strands-> DNA polymerases replicate sequence-> repeat multiple times |
| what is southern blot | DNA sample that is electrophoresed on a gel and then transferred to a filter. The filter is exposed to a labeled DNA probe that binds to complimentary strand. The filter is them exposed on film. |
| What is a Northern blot | RNA sample that is electrophoresed on a gel and then transferred to a filter. The filter is exposed to a labeled DNA probe that binds to complimentary strand. The filter is them exposed on film. |
| what is a western blot | protein sample is electrophoresed and then labeled with a specific antibody. |
| what are microarrays | thousands of nucleic acid sequences are arranged in a grid that DNA or RNA probes hybridize to and are detected with a scanner. |
| how does ELISA work | patient is given either an antibody labeled with a color enzyme or an antigen labeled with a color producing enzyme. you use the antibody if you are looking for an antigen and vice versa. The color enzyme makes color if it binds it target. |
| how does FISH work | fluorescent probes are used to bind specific gene sites. |
| What is sanger DNA sequencing | when dideoxynucleotides halt DNA polymerization at each base making ultiple length sequences that can be electrophoresesd and sequenced. |
| what is meant by cloning | production of recombinant DNA molecule that is self-perpetuating. |
| how is DNA cloning done | inserting DNA fragments into bacterial plasmid with antibiotic resistances genes, when grown on agar only those with resistance will survive and those are the ones with the DNA of interest. |
| what is RNAi | dsRNA that is complementary to mRNA sequence of interest that when put in humans, separates and degradates the mRNA of interest. |
| What is codominance | example is blood groups, neither allele is dominant |
| what is meant by variable expression | nature and severity of phenotype varies amoung people |
| what is incomplete penetrance | not all people with the mutation have phenotype |
| what is meant by pleiotropy | 1 gene has more than 1 effect on phenotype |
| what is imprinting | mutational effect that has a different phenotype based on whether it came from the mother or father |
| what is anticipation | severity of dz worsens with each generation |
| what is loss of heterozygosity | idea that both tumor supressor genes need to be lost, one at a time before cancer grows. |
| Does loss of heterozygosity applies to which type of genes | tumor supressors |
| what is a dominant negative mutation | dominant effect where the mutated gene makes a protein that is nonfunctional and prevents the normal gene product from functioning |
| what is linkage disequilibrium | tendency for alleles that are at 2 linked loci to occur together more than often, based on predicted probabilities |
| what is mosaicism | when cells within one person have different genetic makeup |
| what is locus heterogeneity | mutations at different loci can procude the same phenotype |
| what is an example of locus heterogeneity | albinism |
| what is heteroplasmy | presence of both normal and mutated mtDNA, resulting in variable expression of mitochondrial inherited dz |
| what is uniparental disomy | when offspring gets 2 copies of a chromosome from one parent and none from the other |
| what are the assumptions for Hardy weinberg | no mutation, no selection for genotypes, mating is random, and no migration into or out of population |
| what are the hardy weinberg equations | p+q=1 p^2 + 2pq + q^2 = 1 |
| what is the prevalence of an X-linked recessive dz in males using hardy-weinberg? in girls? | q and q^2 |
| what causes prader willi syndrome | deletion of normally active paternal allele |
| what causes angelman's syndrome | deletion of normally active maternal allele |
| pt presents with mental retardation, obesity, hypogonadism and inability to stop eatting | prader willi |
| pt presents with mental retardation, inappropriate laughter, ataxia and seizures | angelman's syndrome |
| which genetic dz often present with pleiotropy | autosomal dominant |
| what type of inheritance is seen in leber's hereditary optic neuropathy | mitochondrial |
| what type of inheritance is hypophosphatemic rickets | x-linked dominant |
| Name the inheritance pattern: Adult Polycystic kidney dz | autosomal dominant |
| Name the inheritance pattern:Familial hypercholesterolemia | autosomal dominant |
| Name the inheritance pattern: marfan's | autosomal dominant |
| Name the inheritance pattern: neurofibromatosis (type 1 and 2) | autosomal dominant |
| Name the inheritance pattern: Tuberous sclerosis | autosomal dominant |
| Name the inheritance pattern: von hippel-Lindau | autosomal dominant |
| Name the inheritance pattern: huntington's | autosomal dominant |
| Name the inheritance pattern: Familial adenomatous polyposis | autosomal dominant |
| Name the inheritance pattern:hereitary spherocytosis | autosomal dominant |
| Name the inheritance pattern:achondroplasia | autosomal dominant |
| Name the inheritance pattern: cystic fibrosis | autosomal recessive |
| Name the inheritance pattern: thalassemias | autosomal recessive |
| Name the inheritance pattern: phenylketonuria | autosomal recessive |
| Name the inheritance pattern: sickle cell anemia | autosomal recessive |
| Name the inheritance pattern: glycogen storage dz | autosomal recessive |
| Name the inheritance pattern: Hurler's | autosomal recessive |
| Name the inheritance pattern: infant polycystic kidney dz | autosomal recessive |
| Name the inheritance pattern: hemochromatosis | autosomal recessive |
| Name the inheritance pattern: bruton's agammaglobulinemia | X-linked |
| Name the inheritance pattern: Wiskott-Aldrich | X-linked |
| Name the inheritance pattern: G6PD def | X-linked |
| Name the inheritance pattern: Fragile X | X-linked |
| Name the inheritance pattern: Ocular Albinism | X-linked |
| Name the inheritance pattern: Lesch-Nyhan | X-linked |
| Name the inheritance pattern: Hemophilia A/B | X-linked |
| Name the inheritance pattern: Hunters | X-linked |
| Name the inheritance pattern: Fabry's | X-linked |
| T or F, adult polycystic kidney dz is always bilateral | true |
| What causes adult polycystic kidney dz | mutation of APKD1 gene (Chromosome 16) |
| What are associated problems with adult polycystic kidney dz | berry aneurysms, mitral valve prolapse, polycystic liver dz |
| which dz presents with xanthomas on tendons, mostly on achille's tendon | hypercholesterolemia (type IIA hyperlipidemia) |
| Patient is 20 years old and presents with a Myocardial Infarction | hypercholesterolemia (type IIA dyslipidemia) |
| What causes marfan's | mutation of fibrillin gene--> CT disorder |
| This dz commonly presents with aortic dissections, floppy mitral valves and long extremities | Marfan's |
| What optical problem is a/w Marfan's | lens subluxation |
| what cardiac problem is a/w Marfan's | aortic dissection or incompetence |
| what is von Recklinghausen's dz | Neurofibromatosis type I |
| pt presents with cafe-au-lait spots and pigmented iris? | neurofibromatosis type I |
| pt presents with which chromosome causes neurofibromatosis type I | 17 |
| what are common a/w symptoms/problems of neurofibromatosis type I | skeletal disorders, pheochromocytomas, neural tumors. |
| What are lisch nodules | pigmented iris hamartomas seen with neurofibromatosis type I |
| What is a/w bilateral acoustic neuromas | neurofibromatosis type II |
| which gene and chromosome are effected in neurofibromatosis type II | NF2 gene on chromosome 22. |
| what dz is commonly a/w juvenile cataracts | neurofibromatosis type II |
| what defect causes achondroplasia | Fibroblast growth factor receptor 3 |
| T or F, pts with achondroplasia have normal head and trunk, but short limbs | true |
| what gene and chromosome cause familial adenomatous polyposis | chromosome 5 and APC gene |
| which chromosome causes huntington's | 4 |
| what defect causes huntington's | triple repeat disorder on huntington's gene |
| which part of the brain does huntington's effect, how? | caudate atrophy, reduces levels of GABA and ACh in brain |
| pt presents with progressive dementia, choreiform movements and in 50s | huntinton's |
| what is von hippel-lindau dz | deletion of VHL gene (a tumor supressor) which causes hemangioblastomas of retina/cerebellum/ medulla and very often bilateral renal cell carcinomas |
| which chromosome causes von-hippel-lindau | 3 |
| pt presents with facial lesions, hypopigmented spots on skin, retinal hamartomas, mental retardation | tuberous sclerosis |
| what gene causes cystic fibrosis? chromosome | CFTR gene on chromosome 7 |
| what is the most common lethal genetic dz of caucasians | cystic fibrosis |
| what is the treatment of cystic fibrosis | N-acetylcysteine (loosen's muscous plugs) |
| common organism seen in cystic fibrosis | psuedomonas |
| Name the inheritance pattern: Duchenne's and Becker's Muscluar dystrophy | X-linked |
| which is worse, becker's or duchenne's | duchenne's |
| what enzyme is affected in becker's and duchenne's MD | dystrophin |
| T or F, CPK is decreased in musclar dystrophy because muscle require more energy | F, its elevated from damage |
| what is seen on muscle biopsy of muscluar dystrophy | loss of dystrophin on stain, and endometrial fibrosis |
| what gene is effected in Fragile X | FMR1 gene |
| what is the most common cause genetic mental retardation? 2nd? | 1-down's 2- Fragile X |
| what does a fragile X person look like | large jaw, ears, and testes |
| what is a/w 927.3 break point | fragile X |
| What is the mutation seen with duchenne's | frameshift |
| what is the mutation seen with fragile X | triplet repeat (CGG) |
| What dz are a/w triple repeat mutations | huntington's, fragile x, myotonic dystrophy, friedrecich's ataxia. |
| anticipation is commonly a feature of what type of mutation | triple repeat |
| which gene causes down's syndrom | 21 |
| what is the most common mutation cause of down syndrome | meiotic nondysjuction |
| Fetus presents with decreased AFP, increased B-HCG and nuchal translucency | Down's |
| what dz's are a/w down's syndrome | ALL and Alzheimer's |
| what type of heart defect is commonly seen with down's syndrome | septum primum defects-> ASD (endocardial cushion problems) |
| this dz presents with simian crease | down's |
| this dz presents with gaps btw the first two toes | Down's |
| what chromosome causes edwards syndrome | 18 |
| baby born with big head, small jaw and low-set ears | edwards |
| this form of mental retardation presents with clenched hands and rockerbottom feet | edwards |
| what chromosome causes patau's syndrome | 13 |
| this type of mental retardation is a/w cleft lip/palate | patau's |
| this type of mental retardation is a/w polydactyly and rocker bottom feet | patau's |
| compare the two types of nondysjunction | Anaphase I nondysjuction produces two cells with an extra chromosome and 2 with none, Anaphase II nondysjunction produces two normal cells, 1 with an extra chromosome and 1 with none. |
| what is pericentric chromosomal inversion | when inversion in chromosome involves centromere, but proceeds through meiosis |
| what is paracentric inversion | when the chromosomal inversion does not include the centromere but does not go through meiosis |
| what is Cri-du-chat syndrome | deletion of chromosome 5 segment, causes high-pitched crying/mewing (cat sounds), mental retardation and small head |
| what are the associated signs of a 22q11 syndrome | CATCH (cleft palate, Abnormal facies, thymic aplasia, cardiac defects, and hypocalcemia (due to parathyroid aplasia) |
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