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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. Where is pyruvate carboxylase found - What does it do - What does it require amd What activates it
MEN - 2A and 2B with ret gene
Unmethylated - newly synthesized - HNPCC
3' end (with CCA)
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA

2. What is the hardy weinber heterozygote prevalence
Cleft palate - cardiac abnl - pregs test
2 -4 DNP - aspirin
2pq
CarTWOlage

3. Where is fructose 1 -6 bisphosphatase found and What does it do
30 - glycerol -3- phosphate shuttle
BOne
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Same as sprint + OXPHOS

4. pyruvate carboxylase catalyzes what rxn
Pyruvate to oxaloacetate (3C to 4C)
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Wobble
Transmitted through both parents - affected mother may have affected children - affected father will have affected children

5. Give an example of a mitochondrial inherited disease
17 - 17 letters in von Recklinghausen
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Adipse tissue stores - keton bodies become the main source of energy fo the brain and heart - after these are depleted - vital protein degradation accelerates - leading to organ failure and death
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

6. What does hartnups disease cause
Vincritsine/vinblastine
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Phenylalanine hydroxylase
Silencers

7. What does cytokeratin stain for
Epithelial cells
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Vit K antagonist

8. What causes biotin def
Blood - bone marrown - amniotic fluid - placental tissue
Antibiotic use or excessive ingestion of raw eggs
Same AA - often base change in 3rd position of codon (tRNA wobble)
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA

9. What is the defect in II A familial hypercholesterolemia
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Arg - lys - his - arg is most basic - has has no charge at body pH
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia

10. What enzyme becomes essential in PKU
Tyrosine
Locus heterogeneity - ocular albinism is x- linked recessive
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Inc Cl - in sweat

11. What is chediak higashi
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
In ER - glucose 6- P to glucose
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
High output cardiac failure - dilated cardiomyopathy - edema

12. Patients with chronic granulomatous disease are at increased risk of infection From which kind of organisms
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
RNA poly II
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step

13. bilateral - massive enlargement of of kidneys due to multiple large cysts
ADPKD
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Eu - methionine - pro - formyl - methionine

14. Which RNA poly opens DNA at promotor site
FISH
Procollagen - triple helix of 3 alpha collagen chains
RNA poly II
Coenzyme A - lipoamide

15. What shuttle is used in fatty acid degredation and What does it move and From where to where
Marasmus - muscle wasting
Palate - facial and cardiac defects
Carnitine shuttle - acyl - coa from cyto to mito
Medial dorsal nucleus of thalamus - mamillary bodies

16. What is regeneration of methionine depedent on...
Paclitaxel
B12 and folate
B100
Foliage - small reserve in liver - eat green leaves

17. What does Citrate Is Krebs starting substrate for making oxaloacetate
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Carnitine acyltransferase I
Euchromatin
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate

18. What are the symptoms of vit A def
Krabbes - galactocerebrosidase - galactocerebroside - AR
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
Night blindness - dry skin
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

19. How are the many staggered tropocollagen molecules reinforced
Pyruvate to oxaloacetate (3C to 4C)
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Transmitted only through mother - all offspring of affected females may show signs of disease
Not all individuals with a mutant genotype show the mutant phenotype

20. Where does gluconeogenesis primarily happen and What are other sites where the enzymes are located
After day 1
Grows slowly - collapses quickly
Actin and myosin
Liver - also in kidney and gut epithelium

21. What ribosomes do eukaryotes have
40 - 60 - 80
Dermatitis - enteritis - alopecia - adrenal insuff
APKD1 on chromosome 16
RNA poly II

22. What does high cholesterol or long saturated fatty acid content do to the melting temperature and fluidity
Inc melt - dec fluidity
Dermatitis - alopecia - enteritis
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
1 kind with multiple subunits

23. cardiomegaly - systemic findings leading to early death - dz and enzyme

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24. What are ketone bodies made from - where are they metabolized and how are they excreted
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
If pt inherits or develops a mutation in a tumor suppresor gene - the complementary allele must be deleted/mutated before cancer develops - not true of oncogenes - retinoblastoma
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
B6

25. What is the purpose of the HMP shunt
Thymic - parathyroid and cardiac
CFTR gene - 7 - Phe 508
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
TTP

26. What 3 amino acids are necessary for purine synthesis
LDL
Glycine
Glycine - aspartate - glutamine
Lysine and arginine

27. What is the RDE of the HMP shunt
Glucose 6 phosphate dehydrogenase (G6PD)
Tryptophan
Biotin
HMP shunt

28. What do albinism - ARPKD - CF - glycogen storage diseases - hemochromatosis - mucopolysaccharidoses (except Hunters) PKU - sickle cell - sphingolipodoses (except Fabrys) thalassemias have in common
Autosomal recessive diseases
Ca/calmodulin in muscle to coordinate with muscle activity
Degradation of TG stored in adipocytes
1 kind with multiple subunits

29. What is the TX for PKU
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Arg - lys - his - arg is most basic - has has no charge at body pH
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet

30. What do neurofilaments stain for
Neurons
Familial hypercholesterolemia - hyperlipidemia type IIA
VLDL
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates

31. What are purines made from
25OHD3
IMP precursor
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)

32. How do stable (quiescent) cells grow and regenerate and What are examples
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Oxidized hemoglobin precipiated within RBCs
Degredation of TG circulating in chylomicrons and VLDLs
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side

33. What happens in vit D excess
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
VMA
B-100 - CII and E
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

34. nucleotide repeat for fragile x
CGG
Phosphofructokinase 1
Cyclin dependent kinases;constitutive and inactive
Changed AA (convservative - new AA is similar in chemical structure)

35. Which antihelminthe drugs work on microtubules
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Mebendazole/thiabendazole
Glutamate
Carnitine shuttle - acyl - coa from cyto to mito

36. What two amino acids are required druing periods of growth and why
Cyclin dependent kinases;constitutive and inactive
Arg and his inc in histones Which bind negatively charged DNA
Comlex II
APRT + PRPP

37. Eukaryotic and prokaryotic DNA synthesis is blank and involves both blank and blank strands
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Zero
ADPKD
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet

38. What does SAM do
SAM
Ketone - methyl
Hypoxanthine to xanthing and xanthine to uric acid
Transfers methyl units

39. What are the results of CF on male fertility
Males are infertile due to bilateral absence of vas deferens
Neurofibromatosis type 1 (von Recklinghausens disease)
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells

40. What is the amino acid precuror for creatine - urea and nitric oxide
9+2 arrangement of microtubules
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Alanine
Arginine

41. What enzyme esterifies 2/3 of plasma cholesterol
Protective against malaria
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
B48 - AIV - CII - E
LCAT (lecithin cholesterol acyltransferase)

42. What does apoCII do
Cofactor for LPL
Mitochondria
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Essential fructosuria - fructokinase AR

43. Type IV BM
Facial flushing
4 under the floor
Enhancers
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP

44. What order kinetics does EtOH dehydrogenase have
Zero
Reads usual codon but inserts wrong AA
HMP shunt
Nissl body - enzyme and NTs

45. What are the 4 assumption of the Hardy Weinberg law
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Facial flushing
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Comlex II

46. What two cells are particularly rich in RER
Mucus secreting globlet cells and antibody secreting plasma cells
MRNA - tRNA
Achondroplasia
17 - 17 letters in von Recklinghausen

47. Type III collagen
Schwann cells - lens - retina - kidneys
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue

48. What reaction does adenosine deaminase normally catalyze
Adenosine to inosine
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
GAA
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly

49. What is the amino acid precursor for GABA and glutathione
Glutamate
VLDL
Inc Cl - in sweat
VMA

50. What stretch of DNA that alters gene expression by binding of transcription factors
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
Enhancers
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Debranching enzyme