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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 happens to glycogen in the liver
In ER - glucose 6- P to glucose
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
HVA
PCR - denaturation - annealing - elongation

2. Which enzyme involved in RNA synthesis does not require a template
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Conversion of NE to epi
Euchromatin
Poly A polymerase - signal is AAUAA

3. What is the rate limiting enzyme in cholesterol synthesis
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
HMG- CoA (HMG- CoA to mevalonate
Glucose 6 phosphate dehydrogenase (G6PD)
Oral uridine administration

4. What happens in vit D excess
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Attachment of ubiquitin to defective proteins tag them for breakdown
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage

5. What is the fxn of vit D
FISH
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Post to neg

6. Where are cytosolic and organellar proteins made
Free ribosomes
Skin
Peroxide
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus

7. What is the activated carrier for methyl groups
CarTWOlage
Thymic - parathyroid and cardiac
SAM
Carbomoyl phosphate synthetase I

8. When does aspartate enter the urea cycle
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
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
After citruline
Phenytoin - MTX - and sulfonamides

9. What enzyme converts adenine to AMP
APRT + PRPP
Achondroplasia
Euchromatin
Not all individuals with a mutant genotype show the mutant phenotype

10. What is axonemal dynein
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Neural tube
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
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond

11. Describe the structure of cilia
Targets the proteins for lysosome
Mutated dystrophin gene - less severe - adolescence
B100
9+2 arrangement of microtubules

12. What substances inhibit phosphofructokinase -1
ATP and alanine
ATP - citrate
Glycolysis and aerobic respiration
Failure to track objects or develop a social smile

13. What is the initial transcript called and What is the capped and tailed transcript called
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Fasting
1 -25 OH2 D3 = calcitriol

14. What is chediak higashi
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
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
Glycogen and FFA oxidation; glucose conserved for final sprinting

15. What happens in hyperammonemia
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Alpha and beta tubulin - dimers have two GTP bound
DTMP
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase

16. What is the RDE of ketogenesis
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Alanine
HMG- CoA synthase
Leu - lys

17. developmental delay - gargoylism - airway obstruction - corneal clouding - hepatosplenomegaly
Isocitrate dehydrogenase
Medial dorsal nucleus of thalamus - mamillary bodies
Pyruvate to oxaloacetate (3C to 4C)
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR

18. What does Ehlers Danlos cause and why
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
FMR1 gene - methylation - associated with chromosomal breakage
1/4 of offspring from 2 carrier parents are affected - often enzyme def - usually only seen in 1 generation - often more sever than AD - presents in childhood
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease

19. What is the defect in cystinuria
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
40 - 60 - 80
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
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21

20. What components come together to make S- adenosyl methionine
Citrate - acetyl coa from mito to cyto
ATP and methionine
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Activates LCAT

21. Which anti gout drugs work on microtubules
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Colchicine
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome

22. What is kartageners syndrome
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Thymic - parathyroid and cardiac
Cofactor for LPL
17 - 17 letters in von Recklinghausen

23. What 3 steps in RNA processing occur after transcription

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24. What does a southern blot use as its sample
DNA
Alkaptonuria - may have debiliating arthralgias
Result from phagocytic removal of heinz bodies my macs - G6PD def
Pyruvate to oxaloacetate (3C to 4C)

25. What ribosomes do prokaryotes have
Anabolic processes as a supply of reducing equivalents
Methionine encode by only 1 codon (AUG)
30 - 50 - 70
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase

26. Which direction does kinesin go
The triphosphate bond
Neg to pos
Transmitted only through mother - all offspring of affected females may show signs of disease
Fed

27. In which single strand DNA repair mechanism do specific endonucleases release the oligonucTIDE containing bases and DNA poly and ligase fill and reseal - and what disease occures when this is mutated
Liver - ovaries - seminal vesicles
Changed AA (convservative - new AA is similar in chemical structure)
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

28. Which anti breast cancer drugs work on micortubules
Robertsonian translocation and mosaicism
Biotin
Paclitaxel
Inc CPK and muscle biopsy

29. What does vit C def cause
B100 and E
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Isocitrate dehydrogenase
MRNA - tRNA

30. Where does gluconeogenesis primarily happen and What are other sites where the enzymes are located
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
Nissl body - enzyme and NTs
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Liver - also in kidney and gut epithelium

31. What substances directly inhibit electron transport chain
Rotenone - CN- - antimycin A - CO
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Coenzyme A - lipoamide
Base + ribose + phosphate (3' -5') phosphodiester bond

32. Accurate base pairing is required only in the first two nucleotide positions of an mRNA codon - so conds differeing in the 3rd position may code for the same tRNA/AA due to degenerate genetic code
Degradation of TG stored in adipocytes
Phosphorylation - glycosylation - hydroxylation
Particular sequence of DNA where replicatino begins - may be single of multiple
Wobble

33. What is sorbitol - how and why is it made
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Cre - lox system
Consesus sequenec of base pairs

34. What does apoB100 do
Foliage - small reserve in liver - eat green leaves
Attachment of ubiquitin to defective proteins tag them for breakdown
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Binds to LDL receptor - mediates VLDL secretion

35. Which anticancer drugs work on microtubules
MRNA - tRNA
Glycine - aspartate - glutamine
Vincritsine/vinblastine
Kidney - ears - eyes

36. How do macrolides and clindamycin work
Liver hepatocytes and steroid producing cells of the adrenal cortex
Schilling test
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Binds 50S - blocking translocation

37. In what direction are DNA and RNA synthesized

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38. Where is acetaldehyde located
Removal of N or C termal propeptides from zymogens to generate mature proteins
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Mitochondria
Phosphofructokinase 1

39. How does OTC def present
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
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
N to C

40. What is the activated carrier for Co2
Biotin
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Glycogenolysis to form glucose
HMG- CoA reductase

41. What are the symptoms of vit A def
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Night blindness - dry skin
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue

42. What does the addition of mannose -6 phosphate do
SnRNPs and other proteins
Antioxidant - protects RBCs and membrances from free radical damage
Familial hypercholesterolemia - hyperlipidemia type IIA
Targets the proteins for lysosome

43. What is locus heterogeneity and give an example
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Metanephrine
The triphosphate bond

44. What are the results of unbalanced translocation
LDL
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Blood - bone marrown - amniotic fluid - placental tissue
Breaks down acyl - coa to acetyl coa groups in mito

45. What trinucleotide repeat in Huntingtons and what chromosome is it found on...
CAG - 4
Lacks glucose 6 phophatase
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Glycogen synthase

46. Which antifungal drugs work on microtubules
Core proteins
Intermediate filaments
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Griseofulvin

47. delivers hepatic TGs to peripheral tissue - secreted by liver
Phenylethamolamine N methyl transferase
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
VLDL
Phenytoin - MTX - and sulfonamides

48. What reaction does adenosine deaminase normally catalyze
Dermatitis - enteritis - alopecia - adrenal insuff
CAG
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Adenosine to inosine

49. What is the Name and function of vit B2
CAG - 4
CGG
Initiate chains
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

50. Type IV collagen
Basement membrane or basal lamina
Eu - methionine - pro - formyl - methionine
MRNA
Hypoglycemia