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Basic Biochemistry
HY - Bill's COMPILED Basic Biochemistry - One-Liners
| Question | Answer |
|---|---|
| DNA is tightly wrapped against which structures to form chromatin? | Histones |
| Histones are made primarily of which amino acids? | Lysine and Arginine (because of their + charge) |
| Which form of chromatin is condensed and cannot be transcribed? | HeteroChromatin |
| Which form of chromatin is less condensed and can be read? | Euchromatin |
| Which bases are purine? | Adenine and Guanine |
| Which bases are pyrimidines? | Cytosine, Thymine, and Uracil |
| Which amino acids are needed to make purines? | Glycine, Aspartate, and Glutamine |
| Purine bases are made from which precursor? | Inosine Monophosphate dehydrogenase (IMP) |
| Pyrimidines are made from which precursor? | Orotate |
| Rate-limiting enzyme of Purine synthesis? | Glutamine-PRPP-amidotransferase |
| Rate-limiting enzyme of Pyrimidine Synthesis? | Carbamoyl-phosphate-synthatase II (CPS II) |
| Which molecule is needed for both Purine and Pyrimidine synthesis? | PRPP |
| What disorder causes high levels of orotic acid, Failure to thrive, and Megaloblastic anemia (that you can't fix with B12 or folate?) **Knowing that the megaloblastic anemia won't correct in this is huge** | Orotic aciduria |
| What disorders arise because of failure to salvage purines? | SCIDs and Lesch-Nyhan Syndrome |
| What enzyme is deficient in Severe Combined Immunodeficiency Disease (SCID)? | Adenosine Deaminase |
| What enzyme is deficient in Lesch-Nyhan Syndrome? | HGPRT |
| Substituting a purine base for another purine base is called? | Transition |
| Substituting a purine base for a pyrimidine base is called? | Transversion |
| What mutation is caused by a mutation in the 3rd position of the tRNA that doesn't change the protein A.A. sequence? | Silent |
| What mutation is caused by a change in amino acid in a protein but to one with a similar structure? | Missense |
| What mutation is results in the insertion of an early stop codon? | Nonsense |
| What is the cause of Duchenne's muscular dystrophy? | X-linked frame shift mutation resulting in no dystrophin |
| What is the cause of Becker's Muscular dystrophy? | X-linked mutated dystrophin gene but still present |
| Which prokaryotic DNA polymerase does the main work of DNA synthesis and proofreads 3' -> 5'? | DNA Polymerase III |
| Which prokaryotic DNA polymerase degrades the RNA primer and fills in the gap with DNA? | DNA Polymerase I |
| What process is deficient in Xeroderma Pigmentosum? | Nucleotide excision repair |
| What process is deficient in Hereditary nonpolyposis colorectal cancer? | Mismatch repair |
| The start codon AUG codes for which amino acid? | Methionine |
| What are the 3 stop codons? - note these code for no amino acid unlike the start codon AUG - methionine | UGA, UAA, UAG (U Go Away, U Are Away, U Are Gone) |
| Which RNA is the most abundant? | rRNA - rampant |
| Which RNA is the longest? | mRNA - massive |
| Which RNA is the smallest? | tRNA - tiny |
| Which RNA polymerase encodes rRNA? | RNA polymerase I (site of action of Rifampin) |
| Which RNA polymerase encodes mRNA? | RNA polymerase II (site of α-amantin |
| Which RNA polymerase encodes tRNA? | RNA polymerase III |
| mRNA is 1st made into heterogenous nuclear RNA (hnRNA) before it is spliced to make mRNA, which information is kept? Exon or Introns? | Exons |
| Which disease results from alternate splicing mutations? | Thalassemias |
| What enzyme is responsible for attaching the amino acid to tRNA? | Aminoacyl - tRNA synthetase |
| How many high energy bonds are needed to add 1 amino acid during translation? | 4 high-energy bonds (ATP->AMP ; 2 GTP->GDP) |
| Where is the site of synthesis of secretory proteins? | Rough Endoplasmic Reticulum |
| Where is the site of steroid synthesis and detoxification of drugs (organelle not organ)? | Smooth endoplasmic Reticulum |
| What are Nissl bodies are why are they important? | RER in neurons and are in dendrites but not the axon |
| Which organelle is the site for labelling specific proteins for the lysosome? | Golgi apparatus |
| What addition to a protein labels it for the lysosome? | mannose-6-phosphate |
| Which disease results from deficient addition of mannose-6-phosphate onto proteins? | I-cell disease (coarse face, clouded cornea, little joint movement, often fatal in childhood) |
| Which motor protein is used in retrograde transport along microtubules? | Dynein |
| Which motor protein is used in anterograde transport along microtubules? | Kinesin |
| Which disease results in poor phagocytosis, partial albinism, and peripheral neuropathy because of a microtubule polymerization defect? | Chediak-Higashi Syndrome |
| Kartagener syndrome is the result of immotile cilia due to a defect in? | Dynein |
| Symptoms of Kartagener syndrome? | Immotile sperm, female infertility, bronchiectasis, and situs inversus ** note this sounds a lot like cystic fibrosis, however, here sperm are made but don't move, but with CF the vas deferens don't form** |
| Which stain is used to detect connective tissue eg. Sarcomas? | Vimentin |
| Which stain is used to detect muscle eg. Rhabdomyosarcoma? | Desmin |
| Which stain is used to detect epithelial cells eg. Carcinomas? | Cytokeratin |
| Which stain is used to detect neuroglia? | GFAP |
| Which stain is used to detect neurons? | Neurofilaments |
| What type of collagen makes bone, skin, tendons, dentin, and the cornea? | Type I (STRONG) |
| What type of collagen makes cartilage, vitreous body, and the nucleous pulposus? | Type II (SLIPPERY) **carTWOlage** |
| What type of collagen makes blood vessels, uterus, fetal tissue, and granulation tissue? | Type III (BLOODY) |
| What type of collagen makes the basement membrane? | Type IV |
| Collagen is loaded with tons of which amino acids? | Proline and Lysine |
| What is required to form hydroxyproline and hydroxylysine in collagen helices? | Vitamin C |
| What collagen is mutated in Ehlers-Danlos Syndrome? | mostly type III |
| What collagen is mutated in Osteogenesis imperfecta? | Type I |
| What collagen mutation results in nephritis, deafness, and ocular disturbances? | Type IV (Alport's syndrome) |
| What protein is mutated in Marfan's Syndrome? | Elastin |
| What procedure would you use to detect the mutations in Prader-willi or Angelman syndrome? | Either Microarrays or PCR or FISH |
| What procedure would you use to detect antibodies against the basement membrane in Goodpasture's syndrome? | ELISA |
| What procedure would you use to identify the dystrophin gene in Becker's MD from normal dystrophin? | Western blot |
| **Southern blot | DNA ; Northern |
| When looking for a particular gene anomaly which procedure would you use? | FISH |
| What is it called when a random X-chromosome inactivates to form a barr body? Who has them? | lyonization and Women and Klinefelters (must have 2 Xs) |
| The differences in Prader-Willi and Angleman syndrome (chromosome 15) are the result of a process called? | imprinting |
| What are the fat soluble vitamins? | A, K, E, D (All Kids Enjoy Dairy) |
| What are the symptoms of Vitamin A deficiency? | Night blindness and dry skin |
| What are the symptoms of too much Vitamin A? | Teratogen, athralgias, fatigue, headaches, alopecia |
| Wernicke-Korsakoff syndrome is caused by deficiency of what vitamin? (usually cause by chronic alchohol) | B1 (Thiamine) |
| What is the difference between Dry Beri Beri and Wet Beri Beri? Both are caused by Thiamine Deficiency | Dry |
| Symptoms: Cheilosis and corneal vascularization. What is the vitamin deficiency? | B2 (riboflavin) |
| Symptoms: Dementia, Dermatitis, Diarrhea, and Death. What is the vitamin deficiency? | B3 (Niacin) - Pellagra |
| Symptoms: Dermatitis, Enteritis, Alopecia, Adrenal Insufficiency. What is the vitamin deficiency? | B5 (pantothenate) |
| Symptoms: Convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemia. What is the vitamin deficiency? | B6 (pyridoxine) |
| Symptoms: megaloblastic anemia, hypersegmented PMNs, neurologic symptoms. What is the vitamin deficiency? | B12 (cobalamin) |
| Symptoms: megaloblastic anemia, hypersegmented PMNs. What is the vitamin deficiency? | Folic Acid |
| What is the role of S-adenosyl-Methionine (SAM)? | to donate methyl groups (like to make epinephrine) |
| Symptoms: Dermatitis, alopecia, enteritis. Very rare, and caused by antibiotics and too many raw eggs | Biotin deficiency |
| Symptoms: Swollen guns, bruising, anemia, poor wound healing. Vitamin deficiency? | Vitamin C (Scurvy) |
| Symptoms: hemolytic anemia, muscle weakness, neurodysfunction. Vitamin deficiency? | Vitamin E |
| Symptoms: increased PT and PTT but normal bleeding time. Vitamine deficiency? | Vitamin K |
| Vitamin K is needed to make which clotting factors? | Protein S and C, 10, 9, 7, 2 (diSCo started in 1972) |
| Symptoms: delayed wound healing, hypogonadism, loss of adult hair (facial, axillary, pubic), dysgeusia, and anosmia. Deficiency? | Zinc |
| RLE of Glycolysis | Phosphofructokinase - I |
| RLE of Gluconeogenesis | Fructose 1,6-bisphosphatase |
| RLE of TCA cycle | Isocitrate dehydrogenase |
| RLE of glycogen sythesis | Glycogen Synthase |
| RLE of glycogenolysis | Glycogen Phosporylase |
| RLE of HMP shunt (aka the Hexose monophosphate shunt or the pentose phosphate pathway) | Glucose-6-phosphate dehydrogenase |
| RLE of pyrimidine synthesis | CPS II |
| RLE of Purine sythesis | Glutamine-PRPP-amidotransferase |
| RLE of Urea cycle | CPS I |
| RLE of Fatty acid sythesis | Acetyl-CoA carboxylase |
| RLE of fatty acid oxidation | Carnitine acyltransferase I |
| RLE of Ketogenesis | HMG-CoA synthase |
| RLE of Cholesterol sythesis | HMG-CoA reductase |
| What processes are NADPH used in? | Anabolic processes, Respiratory burst, P-450, and Glutathion reductase |
| The following molecules will have an increase or decrease in the rate of glycolysis? 1) ATP 2) AMP 3) Citrate 4) Fructose-2,6-Bisphosphate | 1) Decreases because you have lots of energy 2) Increases because you have no energy 3) Decreases because the TCA cycle needs to catch up 4) Increases because you need to further drive glycolysis |
| What cofactors are required for pyruvate dehydrogenase and α-ketoglutarate dehydrogenase? | Thiamine, FAD (riboflavin), NAD (Niacin), CoA (pantothenate) and Lipoic acid |
| Increased levels of which molecules with increase the rate of pyruvate dehydrogenase? | Increased levels of NAD+/NADH, ADP, and Ca+ **high levels of the above suggests you need energy** |
| What other molecules can pyruvate be made into? | Glucose, Lactate, Acetyl-CoA, Oxaloacetate, and Alanine |
| What is the purpose of the Cori Cycle? | Allows lactate to be made into glucose! |
| What is the purpose of the HMP shunt? | To make NADPH for glutathione protection and ribose |
| What disease is caused by failure to make NADPH and protect against free radical damage? | Glucose-6-phosphate dehydrogenase deficiency |
| What enzyme is deficient in Fuctose Intolerance? | Aldolase B |
| What enzyme is deficient in Essential Fructosuria? | Fructokinase |
| What is the difference between the two above disorders? | Essential Frucosuria is benign (Fructose intolerance has hypoglycemia, jaundice, cirrhosis and vomiting) |
| What enzyme is deficient in Classic Galactosemia? | galactose-1-phosphate uridyltransferase |
| What enzyme is deficient in Galactokinase deficiency? | galactokinase |
| Symptoms of classic galactosemia? | failure to thrive, jaundice, cataracts, hepatomegaly, MR |
| Symptoms of galactokinase deficiency? | mild condition, galactose in urine, cataracts, no social smile |
| What is the most common Urea cycle disorder? | Ornithine transcarbamoylase deficiency (OTC) |
| Symptoms of OTC deficiency? | High Orotic acid, decreased BUN, hyperammonemia |
| What can be made from Phenylalanine? | Tyrosine, DOPA, Dopamine, Thyroxine, Melanin, NE, Epi |
| What can be made from Tryptophan? | Serotonin, Melatonin, Niacin |
| What can be made from Histidine? | Histamine |
| What can be made from Glycine? | Porphyrin, Heme |
| What can be made from Arginine? | Creatine, Urea, and Nitric Oxide |
| What can be made from Glutamate? | GABA, and glutathione |
| What is the cause of Phenylketonuria? | Lack of Phenylalanine Hydroxylase or BH4 |
| What is the cause of alkaptonuria (ochronosis)? | lack of homogentisic acid oxidase |
| What is the cause of albinism? | Lack of tyrosinase or tyrosine transporters |
| What causes homocystinuria? | Lack of Cystathione synthase low affinity of above for pyridoxal phosphate Homocysteine methyltransferase deficiency |
| What are the symptoms of homocystinuria? | Mental retardation, osteoporosis, tall stature, kyphosis lens subluxation, atherosclerosis |
| What is the cause of cystinuria? | Defect in renal tubular amino acid transporter |
| What are the symptoms of cystinuria? | Cystine Kidney stones (Rx. Acetazolamide to increase pH) |
| What is the cause of maple syrup urine disease? | Can't degraded branched chain A.As (Ile, Leu, Val) |
| Which disease results in loss of tryptophan in the urine and leads to pellagra? | Hartnup disease |
| What disease is caused by lack of α-galactosidase A? | Fabry's Disease |
| What disease is caused by lack of β-glucocerebrosidase? | Gaucher's Disease |
| What disease is caused by lack of Sphingomyelinase? | Niemann-Pick Disease |
| What disease is caused by lack of Hexosaminidase A? | Tay-Sachs |
| What disease is caused by lack of Galactocerebrosidase? | Krabbe's Disease |
| What disease is caused by lack of arylsulfatase A? | Metachromatic leukodystophy |
| What disease is caused by lack of α-L-iduronidase? | Hurler's Syndrome |
| What disease is caused by lack of Iduronate sulfatase? | Hunter's Syndrome |
| Which Lysosomal storage diseases are passed in an X-Linked recessive fashion? (rest are recessive) | Hunter's and Fabry's Disease |
| Which Lysosomal storage disease has a cherry red spot? | Niemann-Pick and Tay-Sachs Disease |
| Which LSD has Crumpled tissue paper cytoplasm? | Gaucher's Disease |
| Which LSD has Onion skin lysosomes? | Tay-Sachs |
| Which LSD has Foam cells? | Niemann-Pick Disease |
| What is the difference between Hunter's and Hurler's | Hurler's has corneal clouding, Hunter's does not |
| Which disease is cause by lack of Glucose-6-phosphatase? | Von Gierkes |
| Which disease is caused by lack of α-1,4-glucosidase (acid maltase)? | Pompe's Disease |
| Which disease is caused by lack of α-1,6-glucosidase (debranching enzyme)? | Cori's Disease |
| Which disease is caused by lack of glycogen phosphorylase? | McArdle's Disease |
| Which diseases causes severe fasting hypoglycemia, glycogen buildup in liver, increase blood lactate, and hepatomegaly? | Von Gierkes |
| Which disease causes Cardiomegaly and early death? | Pompe's Disease (Pompe's trashes the pump) |
| Which disease causes fasting hypoglycemia, some glycogen buildup, and increased blood lactate, and hepatomegaly? | Cori's Disease (hard to differentiate between Von Gierkes) |
| Which disease causes increased glycogen in muscle, painful muscle cramps, and myoglobinuria with exercise (red urine)? | McArdle's Disease |
| Rate limiting enzyme of Fatty acid Synthesis? | Acetyl-CoA carboxylase |
| Rate limiting enzyme of Fatty acid Degredation? | Carnitine acyltransferase I |
| Calories for 1g of protein, 1g alcohol, and 1g of fat? | 1 g of protein is worth 4 kcal. 1 g of alcohol is 7 kcal. 1 g of fate is worth 9 kcal. |
| What are the essential fatty acids? | Linoleic and Linolenic Acid |
| What apolipoprotein binds to the LDL receptor? | B-100 |
| What apolipoprotein mediates chylomicron secretion? | B-48 |
| What apolipoprotein mediates extra remnant uptake? | Apo-E |
| What is the cause of abeta-lipoproteinemia? | lack of apoB-100 and apoB-48 |
| What are the symptoms of abeta-lipoproteinemia? | failure to thrive, steatorrhea, spiky-RBCs (acanthocytosis) ataxia, and night blindness |
| What genetics disease follow autosomal dominant transmission? | Achondroplasia, ADPKD, Familial adenomatous polyposis, Hypercholesterolemia, Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu), Hereditary Spherocytosis, Huntington's, Marfan's, MEN, NF types 1/2, Tuberous Sclerosis, and von Hippel-Lindau Disease |
| What genetic diseases follow X-linked transmission? | Bruton's agammaglobinemia, Wiskott-Aldrich syndrome, Fabry's disease, G6PD deficiency, Ocular Albinism, Lesch-Nyhan Syndrome, Duchenne's and Becker's MD, Hunter's Syndrome, Hemophilia A and B, and Fragile X syndrome. |
| Which diseases are caused by trinucleotide repeats? | Huntington's, myotonic dystophy, Fragile X, and Friedreich's ataxia |
| Which trisomy has mental retardation, flat face, epicanthal folds, a simian crease, doudenal atresia, and and ASD? | Down's Syndrome (21) |
| Which trisomy has rocker-bottom feet, micrognathia, low set ears, clenched hands, and congenital heart disease? | Edward's Syndrome (18) |
| Which trisomy has rocker-bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, and polydactyly? | Patau Syndrome (13) |
| Which disorder is characterized by elfin faces, mental retardation, hypercalcemia, extreme friendliness to strangers? | William's Syndrome (think of Will ferrel in ELF) |
| Cri-du-chat is caused by microdeletion of what chromosome? | Chromosome 5p |
| What is the cause of DiGeorge Syndrome (Velocardiofacial syndrome)? | 22q11 deletion |
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HY90X
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