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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. How is vit D stored
Neurofibromatosis type 1 (von Recklinghausens disease)
Makes RNA primer on which DNA poly III can initiate replication
25OHD3
Carnitine acyltransferase I

2. What is the RDE of fatty acid oxidation
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Read from a fixed starting point as a continuous sequence of bases
B100 and E
Carnitine acyltransferase I

3. In eukaryotes - What does RNA poly I make
Assistance of upper extremities to stand up
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
RRNA
Mediates chylomicron secretion

4. Acetyl - CoA carboxylase catalyzes what rxn
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Failure to track objects or develop a social smile
Mediates chylomicron secretion
Acetyl - CoA to malonyl - CoA (2C to 3C)

5. What is the TX for pyruvate dehydrogenase deficiency
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Sulfation
Epithelial cells
Cleft palate - cardiac abnl - pregs test

6. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
Failure to track objects or develop a social smile
FAP
Protein kinase A
2 -4 DNP - aspirin

7. What happens in vit B2 def
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Zero
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
FMR1 gene - methylation - associated with chromosomal breakage

8. Type I bone
BOne
The triphosphate bond
One
CAG

9. What part of the pre mRNA contains the actual genetic information coding for protein
Exons
Degredation of TG circulating in chylomicrons and VLDLs
Hepatic glycogenolysis - adipose tissue release of FFA - muslce and liver FFA - hepatic gluconeogenesis from peripheral tissue lactate and alanine and from adipose tissue glycerol and proprionyl - coA (odd chain FFA)
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies

10. central and peripheral demyelination with ataxia and dementia
VLDL
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Heterochromatin = HighlyCondensed
Pyruvate to oxaloacetate (3C to 4C)

11. characterize x linked recessive
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Sons of heterozygous mothers have 1/2 half chance of being affected - no male to male transmission - and often more severe in males - heterozygous females may be affected

12. Outside the fibroblast What part of procollagen is cleaved and What is it transformed into
F16BP
Sucrose = glucose + fructose - lactose = glucose + galactose
Terminal regions - tropocollagen
Oxalacetate

13. In which state is FBPase -2 active
Fasting
Acetyl - CoA carboxylase (ACC)
ATP
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination

14. What does aminoacyl tRNA synthetase do the AA before and after it binds to tRNA - and what happens if it's the wrong the match
Cytosol - F 1 -6 BP to fructose 6 Phosphate
NAD+
HMP shunt
Scrutinizes - hydrolyzes the bond

15. What metabolic rxns occur in the mitochondria
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
RNA
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Cartilage - hyaline - vitreous body - nucleus pulposus

16. What is the activated carrier for Acyl
Neurons
Liver - also in kidney and gut epithelium
Mitochondria
Coenzyme A - lipoamide

17. What does the golgi assemble proteoglycans from
Core proteins
Malapsorption syndromes like sprue or CF or mineral oil intake
Essential fructosuria - fructokinase AR
Phosphorylation - glycosylation - hydroxylation

18. cytoskeletal elements associated with vimenentin - desmin - cytokeratin - glial fibrillary acid protiens (GFAP) - neurofilaments
Reads usual codon but inserts wrong AA
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Intermediate filaments
30 - 50 - 70

19. What happens in the first stage of collagen synthesis - and Where does it happen
They yield only acetyl - CoA equivalents
GTP
Medial dorsal nucleus of thalamus - mamillary bodies
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)

20. Which aspect of the spliceosome do patients with lupus make antibodies against
Prevent strands from reannealing
Microtubules
Fasting
SnRNPs

21. What are the reactants for glycolysis
Arg - lys - his - arg is most basic - has has no charge at body pH
Glucose - 2Pi - 2ADP - 2NAD+
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Bruton's agammaglobulinemia - wiskott - aldrich - fabrys disease - G6PD def - ocular albinism - Lesch - Nyhan syndrome - Duchenne and Becker Muscular Dystrophy - hunter's syndrome - hemophilia A and B

22. What is the RDE of ketogenesis
HMG- CoA synthase
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
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

23. What enzyme degrades a small amount of glycogen in lysosomes
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Alpha 1 -4 glucosidase
Antioxidant - protects RBCs and membrances from free radical damage
Inc melt - dec fluidity

24. What happens with wet beriberi
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Hereditary spherocytosis
High output cardiac failure - dilated cardiomyopathy - edema
Assistance of upper extremities to stand up

25. What is the wernicke - korsakoff clinical picture
In ER - glucose 6- P to glucose
CGG
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss

26. Which amino acids are elastin rich in
1 ring
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
Proline and glycine (non glycosylated forms)
Oxidized hemoglobin precipiated within RBCs

27. What 3 steps in RNA processing occur after transcription

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28. What do def in in enzymes of gluconeogenesis cause
Hypoglycemia
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Metanephrine
Protective against malaria

29. Formed and degradation of VLDL - delivers TGs and cholesterol to liver where they are degraded to LDL
Heterochromatin = HighlyCondensed
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
IDL

30. How many ATP are produced by anearobic glycolysis per molecule of glucose
Two
Flank pain - hematuria - HTN - progressive renal failure
P2 +2pq+ = 1
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis

31. What shape does the RNA generate during splicing and why?
Carnitine acyltransferase I
Essential fructosuria - fructokinase AR
Antioxidant - protects RBCs and membrances from free radical damage
Lariat shape in order and remove intron precisely and join 2 exons

32. In eukaryotes - What does RNA poly II make
Enhancers
Malonyl coa
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
MRNA

33. What happens on the nonoxidative arm of the HMP shunt and What is the key enzyme and cofactor
Pseudomonas and s aureus
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
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
Williams syndrome

34. What is the Name and function of vit B1
Glycogen and FFA oxidation; glucose conserved for final sprinting
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
17 - 17 letters in von Recklinghausen
Neural tube

35. In what direction are DNA and RNA synthesized

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36. What is disulfiram used for
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Familial hypercholesterolemia - hyperlipidemia type IIA
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
75 to 90 - cloverleaf

37. What enzyme does fructose metabolism bypass to reach glycolysis
LDL
Pyruvate - NAD+ - CoA
Sulfation
PFK - rate limiting enzyme

38. What is pleiotropy and given an example
Basement membrane or basal lamina
APC on chromosome 5
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Achondroplasia

39. What are the 4 assumption of the Hardy Weinberg law
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
NF2 on chromosome 22
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

40. What 3 syndromes are associated with vit B1 def
Glycolysis and aerobic respiration
Wernicke - korsakoff - dry and wet beriberi
Seals.
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse

41. In which state is PFK-2 active
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Fed
25OHD3
Vincritsine/vinblastine

42. What happens in zinc def
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Phenytoin - MTX - and sulfonamides
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis

43. What is proteasomal degredation
Attachment of ubiquitin to defective proteins tag them for breakdown
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
CTG
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

44. nucleotide repeat for fredreich's ataxia
Accelearted muscle breakdown
B-100 - CII and E
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
GAA

45. Where is glucokinase found - What are the Km and Vmax - and what induces it
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
N to C
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)

46. What two cells are particularly rich in RER
Mucus secreting globlet cells and antibody secreting plasma cells
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Deamination
Citrate - acetyl coa from mito to cyto

47. What is the RER called in neurons and What is made there
Each codon specifies only 1 amino acid
Nissl body - enzyme and NTs
Epithelial cells
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR

48. ADPKD is associated with What additional conditions
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Pyruvate to oxaloacetate (3C to 4C)
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Polycystic liver disease - berry aneurysm - mitral valve prolapse

49. What are CDKs
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Cyclin dependent kinases;constitutive and inactive
Fasting
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)

50. cytoskeletal elements in micorvilli - muscle contracting fibers - cytokenesis - adherens jxns
Histidine
1 -25 OH2 D3 = calcitriol
Actin and myosin
Basement membrane or basal lamina