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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 the RDE of glycogenolysis
UGA - UAA and UAG
HVA
Glycogen phosphorylase
Met - val - arg his

2. congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosine to fumarate leading to dark connective tissue - brown pigmented sclera - urine turns black on standing - dz and worst complication
PCR - denaturation - annealing - elongation
Alkaptonuria - may have debiliating arthralgias
NAD+
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin

3. Type II cartilage
Mebendazole/thiabendazole
RRNA
CarTWOlage
Transfers methyl units

4. What is the activated carrier for phosphoryl
ATP
Antioxidant - facilitates iron absorption by keeping iron in the Fe2+ reduced state - necessary for hydroxylation of proline and lysine collagen bridges - necessary for dopamine beta hydroxylase which converts DA to NE
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells

5. What is the amino acid precuros for niacin and serotonin/melatonin
Tryptophan
Specific glycosylases - AP endonuclease
Base + ribose
Phenylalanine hydroxylase

6. What does commaless - nonoverlapping genetic code refer to...
Autosomal recessive diseases
Read from a fixed starting point as a continuous sequence of bases
ADPKD
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs

7. What does DNA poly III do?

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8. How is vit D stored
25OHD3
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
5' of the incoming nucleotide
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

9. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Q -
Dec DNA - dec lymphos leads to SCID
Lacks glucose 6 phophatase

10. What are the characteristics of prader willi syndrome How does it occur
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
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
F16BP
PCR - denaturation - annealing - elongation

11. What is the target of the 3' hydroxyl attack
The triphosphate bond
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Fed
P2 +2pq+ = 1

12. What does cytokeratin stain for
X- linked recessive
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
Epithelial cells
1 kind with multiple subunits

13. characterize autosomal domint inheritance
Cre - lox system
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Change resulting in early stop codon

14. cytoskeletal elements in micorvilli - muscle contracting fibers - cytokenesis - adherens jxns
Actin and myosin
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Carbomoyl phosphate synthetase II
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR

15. what happens in acyl coa dehyrdogenase def
Defect in fibrillin
Inc dicarboxylic acids - dec in glucose and ketones
Facial flushing
L form

16. What are the physical findings of fragile x syndrome
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
Peroxide
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Makes RNA primer on which DNA poly III can initiate replication

17. fibrillin defect leading to connective tissue disorder affecting skeleton - heart - and eyes
Marfans
Inc dicarboxylic acids - dec in glucose and ketones
Acetyl - CoA to malonyl - CoA (2C to 3C)
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

18. delivers hepatic TGs to peripheral tissue - secreted by liver
Cartilage - hyaline - vitreous body - nucleus pulposus
THFs
VLDL
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

19. What are the results of unbalanced translocation
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Adds 2 carbon with the help of biotin
L form

20. How do fluoroquinolones work
Defect in fibrillin
Activates LCAT
Inhibit DNA gyrase specific for prokaryotic topoisomerase
ATP - citrate

21. Pts with albinism are at inc risk For what cancer
The triphosphate bond
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Skin
Dopamine beta hydroxylase

22. What metabolic rxns occur in the cytoplasm
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
DNA
Mediates extra remnant take up

23. The pyruvate dehydorgenase complex serves In what reaction: reactants
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
Pyruvate - NAD+ - CoA
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
RRNA

24. cytoskeletal elements associated with cilia - flagella - mitotic spindle - neurones and centrioles
Inc CPK and muscle biopsy
Microtubules
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side

25. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Marasmus - muscle wasting
Oligomycin
Asp and Glu
Rb and p53

26. deletion of VHL gene on chromosome 3 leading to hemangioblastomas of retina/cerebellum/medulla bilateral RCC - dz and overexpression product
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Inhibits RNA polymerase II - found in death cap mushrooms
Von hippel lindau - 3

27. hepatosplenomegaly - aseptic necrosis of femur - bone crisis - MACS that look like crumpled tissue paper

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28. What is I cell disease
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Activates LCAT
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

29. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
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
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Inc glucagon - inc cAMP - inc PKA
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

30. What are the water soluble vitamins - which ones are stored
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Makes RNA primer on which DNA poly III can initiate replication
Krabbes - galactocerebrosidase - galactocerebroside - AR
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP

31. What is codominance and give an example
HDL
Alpha 1 -4 glucosidase
Neither of 2 alleles is dominant - blood groups
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood

32. Infection with what organism can cause B12 def
Exercise: inc NAD/NADH - inc ADP - inc Ca
Rb and p53
Diphyllobothrium latum
Exons

33. Describe the replication fork
Inc CPK and muscle biopsy
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Promotor - TATA box - and CAAT box - AT rich

34. Eukaryotic and prokaryotic DNA synthesis is blank and involves both blank and blank strands
Oxidizes substrate
Pseudomonas and s aureus
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Reads usual codon but inserts wrong AA

35. In which structures do you find microtubules
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
PFK - rate limiting enzyme
ATP and alanine
Flagella - cilia - mitotic spindles

36. What substance accumulates in galactokinase def and What is the clinical picture
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Vit K antagonist
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
CAG

37. What enzyme def can cause emphysema
B6
Alpha1 antitrypsin
Robertsonian translocation and mosaicism
Phenylketones in urine

38. What substances inhibit phosphofructokinase -1
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
ATP - citrate
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
EtOH dehydrogenase and acetaldehyde dehydrogenase

39. How do stable (quiescent) cells grow and regenerate and What are examples
Locus heterogeneity - ocular albinism is x- linked recessive
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Oxidizes substrate

40. What is the energy source for tRNA actication (charging)
VLDL
Silencers
ATP
Mebendazole/thiabendazole

41. How do microtubules grow and collapse
2pq
HMP shunt
Grows slowly - collapses quickly
3' end (with CCA)

42. What happens in carnitine def
Core proteins
FMR1 gene - methylation - associated with chromosomal breakage
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs

43. What defects characterize DiGeorge syndrome
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
APKD1 on chromosome 16
Thymic - parathyroid and cardiac
30 - glycerol -3- phosphate shuttle

44. What are the results of pancreatic insuff in CF
Removal of N or C termal propeptides from zymogens to generate mature proteins
Malabsorption and steatorrhea (ADEK)
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

45. What does Citrate Is Krebs starting substrate for making oxaloacetate
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Inc melt - dec fluidity

46. How does chloramphenicol work
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Assistance of upper extremities to stand up
Degredation of dietary TG in small intestine
Inhibits 50S peptidyltransferase

47. What does inc phenylalanine lead to...
Phenylketones in urine
Malonyl coa
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Males are infertile due to bilateral absence of vas deferens

48. What is the function of Zinc
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Protective against malaria
Chylomicrons
UGA - UAA and UAG

49. Why is G6PD def more common among patients of african decent
Protective against malaria
Phenytoin - MTX - and sulfonamides
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Dermatitis - glossitis - and diarrhea

50. Inhibition of thymidilate synthase and and DHFR lead to decrease In what substance
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
DTMP
Liver and leafy veggies
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1