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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. ADPKD is associated with What additional conditions
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Euchromatin
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Polycystic liver disease - berry aneurysm - mitral valve prolapse

2. What is the Name and fxn of vit B12
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
ADPKD
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
LCAT (lecithin cholesterol acyltransferase)

3. What is sorbitol - how and why is it made
Alcohol version of glucose - can trap glucose in cell - aldose reductase
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Neg to pos

4. What two pathways is carbomoyl phosphate involved in - and what enzyme deficiency leads to a build of carbamoyl phosphate leading to what element in pyrimidine synthesis
Passed to glutamate - then to alanine enters blood - enters liver - coverted to pyruvate and transfers ammonium back to glutamate which gives it to the urea cycle
Pyroxidine - converted to pyroxidine phosphate a cofactor used in transamination - decarboxylation - glycogen phosphorylase - cystathionine synthesis and heme synthesis - required for synthesis of niacin and tryptophan
Kwashiorkor - small child with swollen belly
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway

5. What does vit E def cause
Mediates chylomicron secretion
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Evident in first few days of life - can present last onest - excess carbamoyl phosphate converted to orotic acid - orotic acid in blood and urine - dec BUN and symptoms of hyerpammonemia
ATP hyrdolysis couple to energetically unfavorable rxns

6. What apolipoprotiens are on VLDL
B-100 - CII and E
Consesus sequenec of base pairs
CAG - 4
Rotenone - CN- - antimycin A - CO

7. What is uniparental disomy
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
CarTWOlage
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

8. What is the most abundant type of RNA
Cofactor for LPL
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
RRNA
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

9. What happens in vit K def
X linked frame shif mutation
Malabsorption and steatorrhea (ADEK)
Alkaptonuria - may have debiliating arthralgias
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

10. What are the symptoms of vit A excess
Occurs when cells in the body have different genetic makeup - can be germline mosaic - which may produce a disease that is not carried by parents somatic cells - lyonization - random X inactivation in females
Phenytoin - MTX - and sulfonamides
3' end (with CCA)
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia

11. What are the irreversible enzymes of gluconeogenesis
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Chylomicrons
4 under the floor

12. What are bite cells and when do you see them
Collagen
Removes phosphate group from substrate
Result from phagocytic removal of heinz bodies my macs - G6PD def
UDP glucose pyrophosphorylase

13. What are the functinos of vitamin A
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Tyrosine
Arginine

14. cytoskeletal elements in micorvilli - muscle contracting fibers - cytokenesis - adherens jxns
Degradation of TG remaining in IDL
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Actin and myosin
VLDL

15. What other inflammatory process can induce a hemolytic anemia in NADPH defieicnt patients
Antioxidant - protects RBCs and membrances from free radical damage
Infection - free radicals generated by inflammatory response
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)

16. peripheral neuropathy - developmental delay - optic atrophy - glopoid cells
Active secretion in lungs and GI - reabsorbs in skin
Arg - lys - his - arg is most basic - has has no charge at body pH
Krabbes - galactocerebrosidase - galactocerebroside - AR
Arginine

17. Why can't even chain fatty acids produce new glucose
Protein
Inc glucagon - inc cAMP - inc PKA
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
They yield only acetyl - CoA equivalents

18. What converts NE to epi
Oxidized hemoglobin precipiated within RBCs
Change resulting in early stop codon
Basement membrane or basal lamina
Phenylethamolamine N methyl transferase

19. What are the water soluble vitamins - which ones are stored
Asp and Glu
HMG- CoA synthase
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Promotor - TATA box - and CAAT box - AT rich

20. What causes maple syrup urine disease and What does it lead to...
Myeloperoxidase
Carnitine acyltransferase I
Hypoglycemia
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death

21. What are the mRNA stop codons
Ketone - methyl
Covalent cross - linking by lysyl oxidase to make collagen fibrils
UGA - UAA and UAG
Inc permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat

22. What is RNAi used for
Uses ATP to add high energy phophate group onto substrate
DsRNA promotes degradation of target mRNA knocking down gene expression
Exons
Degredation of TG circulating in chylomicrons and VLDLs

23. What defects characterize DiGeorge syndrome
Thymic - parathyroid and cardiac
LCAT (lecithin cholesterol acyltransferase)
Post to neg
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet

24. Which anticancer drugs work on microtubules
Vincritsine/vinblastine
GTP
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles

25. cell signaling defect of fibroblast growth factor (FGF) receptor 3 - results in dwarfism - short limbs - head/trunk nl size - associated with advanced paternal age
Grows slowly - collapses quickly
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Karyotyping
Achondroplasia

26. Which step in the de novo purine and pyrimidine synthesis pathway requires just aspartate
Orotic acid to UMP
75 to 90 - cloverleaf
Enhancers
Glutamate

27. What does apoA 1 do
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Activates LCAT
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Q -

28. What does apoE do
Mediates extra remnant take up
CAG - 4
Uses ATP to add high energy phophate group onto substrate
Inhibit DNA gyrase specific for prokaryotic topoisomerase

29. What are the purely ketogenic amino acids
B48 - AIV - CII - E
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Leu - lys
Dopa decarboxylase

30. What is the energy source for tRNA actication (charging)
ATP
Lysine and leucine
Dermatitis - glossitis - and diarrhea
Ile - phe - thr - trp

31. What is I cell disease
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
B100 and E
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

32. What are the findings in Lesch - Nyhan
HVA
Paclitaxel
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Base + ribose + phosphate (3' -5') phosphodiester bond

33. What activates the pyruvate dehydrogenase complex
Exercise: inc NAD/NADH - inc ADP - inc Ca
Microarrays
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Neural tube

34. Type IV collagen
GTP
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Adenosine to inosine
Basement membrane or basal lamina

35. What does DNA poly III do?

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36. What are possilbe presentation for galactokinase def
Each codon specifies only 1 amino acid
Zero
FISH
Failure to track objects or develop a social smile

37. What happens on the nonoxidative arm of the HMP shunt and What is the key enzyme and cofactor
Glutamate
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1

38. What does Citrate Is Krebs starting substrate for making oxaloacetate
Lactate
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA

39. What does the TCA cycle produce per 1 acetyl CoA
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
5' to 3'
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Locus heterogeneity - ocular albinism is x- linked recessive

40. What converts limit dextran to glucose
Prevent strands from reannealing
Occurs when cells in the body have different genetic makeup - can be germline mosaic - which may produce a disease that is not carried by parents somatic cells - lyonization - random X inactivation in females
Debranching enzyme
PCR - denaturation - annealing - elongation

41. What components come together to make S- adenosyl methionine
F16BP
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Glycogenolysis to form glucose
ATP and methionine

42. What does inc phenylalanine lead to...
Phenylketones in urine
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
NADPH

43. What is the treatment for orotic aciduria
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Acetoacetate and beta hydroxybutyrate
Oral uridine administration
ADPKD

44. In what direction are DNA and RNA synthesized

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45. What is Retin A used topically for
Dermatitis - alopecia - enteritis
Proline and glycine (non glycosylated forms)
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Wrinkles and acne

46. What is the Name and function of vit B2
Oxalacetate
F16BP
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

47. What is the defect in cystinuria
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT

48. What does osteogenesis imperfecta causes and why
Mitochondria
Brittle bone disease - most commonly lead AD with abnl type I collagen causing multiple fractures with minimal trauma - blue sclerae due to translucency of connective tissue over the choroid - hearing loss - dental imperfections due to lack of dentin
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
TRNA

49. What is used to diagnose muscular dystrophies
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
They yield only acetyl - CoA equivalents
APC on chromosome 5
Inc CPK and muscle biopsy

50. Type IV collagen is an important structural componenet of the BM for which 3 organs
By inhibiting formation of the initiation complex and cause misreading of mRNA
Colchicine
Kidney - ears - eyes
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase