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Biochemistry

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Answer 50 questions in 15 minutes.
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Match each statement with the correct term.
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1. What is pleiotropy and given an example
Wrinkles and acne
Dermatitis - alopecia - enteritis
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes

2. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Fibroblast
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Pyruvate - NAD+ - CoA
Proton gradient

3. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Removal of N or C termal propeptides from zymogens to generate mature proteins
Neither of 2 alleles is dominant - blood groups
RER

4. What is NADPH's role inside RBCs
Keep glutathione reduced so it can detoxify free radicals and peroxides
P2 +2pq+ = 1
ATP
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact

5. What is the Name and fxn of vit B5
High output cardiac failure - dilated cardiomyopathy - edema
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive

6. congenital microdeletion of long arm of chromosoe 7 with findings of elfin facies - mental retardation - hypercalcemia - well developed verbal skills - extreme friendliness with strangers - cardiovascular problems
Asp and Glu
Peroxide
Williams syndrome
Dopamine beta hydroxylase

7. Which anti gout drugs work on microtubules
Colchicine
2 rings
Seals.
Adenosine to inosine

8. recurrent pulmonary infxns in CF are due to what organisms
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Pseudomonas and s aureus
FMR1 gene - methylation - associated with chromosomal breakage
Accelearted muscle breakdown

9. Name 5 drugs that interfere with nucleotide synthesis
HDL
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Mebendazole/thiabendazole

10. What is variable expression and What is an example
Nature and severity of phenotype vary from 1 individual to another - NF type 1
17 - 17 letters in von Recklinghausen
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Isocitrate dehydrogenase

11. What is the defect in II A familial hypercholesterolemia
Free ribosomes
32 - malate aspartate shuttle
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
NADH - NADPH - FADH2

12. Which RNA poly opens DNA at promotor site
RNA poly II
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Promotor - TATA box - and CAAT box - AT rich

13. progressive neurodegeneration - hepatosplenomegaly - cherry red spot on macula - foam cells
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users
RNA poly II
Arg and his inc in histones Which bind negatively charged DNA

14. Which carbon bears the triphosphate and the energy source for bond formation

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15. What does the primary transcript combine with to form the spliceosome
Mebendazole/thiabendazole
SnRNPs and other proteins
Mediates extra remnant take up
Change resulting in early stop codon

16. How does ouabain work
Inhibits the Na/K pump by binding the K side
Procollagen - triple helix of 3 alpha collagen chains
Hypoxanthine to xanthing and xanthine to uric acid
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR

17. What is DNA cloning and How do you do it?
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Removes phosphate group from substrate
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis

18. What are the findings in Down's syndrome
Superoxide dismutase
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Mental retardation - flat facies - prominent epicanthal folds - simian crease - gap between 1st 2 toes - duodenal atresia - congenital heart disease (ASD) - inc risk of All and Alzheimers
Dopa decarboxylase

19. What amino acid makes up most of the octamer
Chylomicrons
HGPRT - defective purine salvage - excess uric acid production
Oxidative is irreversible
Lysine and arginine

20. The pyruvate dehydorgenase complex serves In what reaction: reactants
HMP shunt
VMA
Pyruvate - NAD+ - CoA
Autosomal recessive diseases

21. What inhibits the carnitine shuttle
Neuralgia
Malonyl coa
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Arg - lys - his - arg is most basic - has has no charge at body pH

22. What is the rate determining enzyme (RDE) of glycolysis
ATP
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Phosphofructokinase 1
Males are infertile due to bilateral absence of vas deferens

23. What drugs can cause folate def
Phenytoin - MTX - and sulfonamides
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Hereditary spherocytosis
O- oligosaccharaides

24. Where is vit A found in the diet
Liver and leafy veggies
APC on chromosome 5
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles

25. What does PURe As Gold and CUT The Py stand for
Huntingtons
2pq
Purines= A - G pyrimidine = C - T (U)
Prokaryotic only - degrades RNA primer and fills in the gap with DNA

26. What is the RDE of TCA cycle
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Binds to LDL receptor - mediates VLDL secretion
MEN - 2A and 2B with ret gene
Isocitrate dehydrogenase

27. Why does alpha amanitin cause liver failure and Where is it found
Inhibits RNA polymerase II - found in death cap mushrooms
Von Gierke's - Pompe - Cori - McArdle
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Change resulting in early stop codon

28. What is RNAi used for
DsRNA promotes degradation of target mRNA knocking down gene expression
Exerts a dominant effect - a heterozygote produces a nonfxnal altered protein that also prevents the normal gene from functioning - mutation of Tx factor its allosteric site - nonfxning mutant can still bind DNA - preventing wild type Tx from binding
Acetly- CoA - CO2 - NADH
Males are infertile due to bilateral absence of vas deferens

29. What does a kinase do
RRNA
Uses ATP to add high energy phophate group onto substrate
Exercise: inc NAD/NADH - inc ADP - inc Ca
TTP

30. What happens with wet beriberi
DTMP
Y shaped region along the DNA template where leading nad lagging strands are synthesized
OTC has hyperammonemia - orotic aciduira does not
High output cardiac failure - dilated cardiomyopathy - edema

31. Of the four possible fates for pyruvate - which one can replenish TCA cycle or be used in gluconeogenesis
Oxalacetate
Exercise: inc NAD/NADH - inc ADP - inc Ca
Dopamine beta hydroxylase
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

32. What apolipoprotein is on LDL
Oxalacetate
Nissl body - enzyme and NTs
B100
CarTWOlage

33. What is the source of energy in the fasting state between meals
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Connective tissue
UGA - UAA and UAG

34. In eukaryotes - What does RNA poly I make
RRNA
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis

35. Which anti breast cancer drugs work on micortubules
HGPRT - defective purine salvage - excess uric acid production
Polycystic liver disease - berry aneurysm - mitral valve prolapse
Paclitaxel
Sulfation

36. What is the rate limiting enzyme in cholesterol synthesis
HMG- CoA (HMG- CoA to mevalonate
Free ribosomes
Adenosine to inosine
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

37. What does a decrease in decrease in NADPH lead to and why
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

38. What does Citrate Is Krebs starting substrate for making oxaloacetate
PCR - denaturation - annealing - elongation
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
B6
Neimann - pick - sphingomyelinase - sphingomyelin - AR

39. What does the golgi do to sugars in proteoglycans and of selected tyrosine on proteins
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Sulfation
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Cre - lox system

40. What two rxns in in glycolysis require ATP
After day 1
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Wernicke - korsakoff - dry and wet beriberi
TTP

41. What are the symptoms of vit A def
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Night blindness - dry skin
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Cytosol

42. Which type of chromatin is condensed - transcriptionally inactive - sterically inaccessible?
Inc CPK and muscle biopsy
PCR - denaturation - annealing - elongation
Heterochromatin = HighlyCondensed
Phenylketones in urine

43. What is disulfiram used for
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
B100 and E
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Active secretion in lungs and GI - reabsorbs in skin

44. Of the four possible fates for pyruvate - which one is a transition from glycolysis to TCA cycle
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Lysine and leucine
Acetyl - CoA
Targets the proteins for lysosome

45. What are the 2 distinct phases of the HMP shunt and How many ATP are used and produced
Liver hepatocytes and steroid producing cells of the adrenal cortex
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Oxidative and nonoxidative - no ATP produced or used
O- oligosaccharaides

46. delivers hepatic TGs to peripheral tissue - secreted by liver
VLDL
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
CGG
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor

47. Type IV collagen
Dermatitis - enteritis - alopecia - adrenal insuff
Basement membrane or basal lamina
Only processed RNA
RNA

48. What feedback inhibits hexokinase
Attachment of ubiquitin to defective proteins tag them for breakdown
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
Glucose -6 phosphate
Early in life - AR - inability to synthesize lipoproteins due to def in apoB100 and B48 - intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons - failure to thrive - steatorrhea - acanthocyt

49. What is the TX for hyper ammonemia
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Modifies N- oligosaccharides
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Pyruvate to oxaloacetate (3C to 4C)

50. what happens in acyl coa dehyrdogenase def
Euchromatin
Inc dicarboxylic acids - dec in glucose and ketones
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
RNA