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Biochemistry

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Answer 50 questions in 15 minutes.
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1. elevated LDL due to defective or absent LDL receptor - heterozygotes have cholesterol ~300 - homozygotes ~700
25OHD3
Phosphofructokinase 1
Familial hypercholesterolemia - hyperlipidemia type IIA
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

2. What is the defectin IV - hypertriglyceridemia
Dec DNA - dec lymphos leads to SCID
Neither of 2 alleles is dominant - blood groups
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL

3. Where is PEP carboxykinase found - What does it do - and What does it require
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Neurons
FAP
Proline and glycine (non glycosylated forms)

4. How do aminoglycosides work
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Liver and leafy veggies
75 to 90 - cloverleaf
By inhibiting formation of the initiation complex and cause misreading of mRNA

5. What is the exception to genetic redundancy
Dopa decarboxylase
Methionine encode by only 1 codon (AUG)
Promotor - TATA box - and CAAT box - AT rich
Pyruvate to oxaloacetate (3C to 4C)

6. What does Ehlers Danlos cause and why
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Comlex II
MRNA - tRNA
Marasmus - muscle wasting

7. What does apoB100 do
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Binds to LDL receptor - mediates VLDL secretion
Citrate - acetyl coa from mito to cyto

8. What is the energy source for translocation
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
GTP
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

9. Which direction does kinesin go
Neg to pos
Isocitrate dehydrogenase
Skin
Cri du chat

10. What are purines made from
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
IMP precursor
Not all individuals with a mutant genotype show the mutant phenotype
HVA

11. Name as many x- linked recessive disorders as you can

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12. How do tetracyclines work
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
TRNA
Bind 30s subunit preventing attachment of aminoacyl - tRNA

13. What does a carboxylase do
II - VII - IX - X (1972) protein C and S
Dermatitis - enteritis - alopecia - adrenal insuff
Proton gradient
Adds 2 carbon with the help of biotin

14. What is uniparental disomy
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
B12 and folate
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Dermatitis - glossitis - and diarrhea

15. spheroid RBCs due to spectrin or ankyrin defect - hemolytic anemia - inc MHCH - splenectomy is curative
Fructose 1 -6 bisphosphate
Hereditary spherocytosis
Autosomal recessive diseases
Marasmus - muscle wasting

16. benign asymptomatic condition with elevated levels of fructose in urine and blood - dz and enzyme
Essential fructosuria - fructokinase AR
Cytosol
Silencers
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects

17. What is the Hardy Weinberg disease prevalence equation
P2 +2pq+ = 1
SNP
Neither of 2 alleles is dominant - blood groups
Read from a fixed starting point as a continuous sequence of bases

18. What does the golgi apparatus do on asparagine
Hypoxanthine to xanthing and xanthine to uric acid
Modifies N- oligosaccharides
Inc CPK and muscle biopsy
Skin

19. What is the amino acid precursor for GABA and glutathione
5' to 3'
Glutamate
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Creat a nick in the helix to relieave supercoils created during replication

20. Leysh - Nyhan syndrome is a defect in which enzyme and What are the biochemical results
HGPRT - defective purine salvage - excess uric acid production
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Alanine
1 kind with multiple subunits

21. Which kind of osteogenesis imperfecta is fata in utero or in neonatal period
Type II
G6PD
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Silencers

22. What does the golgi do to sugars in proteoglycans and of selected tyrosine on proteins
Sulfation
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Malabsorption and steatorrhea (ADEK)

23. FAP is due to deletion On what gene On what chromosome
Binds to LDL receptor - mediates VLDL secretion
APC on chromosome 5
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

24. What substance inside the cell serves to oxidize glutatione
Peroxide
Night blindness - dry skin
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
VMA

25. What does hormone sensitive lipase do
Thymic - parathyroid and cardiac
Uses ATP to add high energy phophate group onto substrate
Degradation of TG stored in adipocytes
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it

26. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
1 ring
Post to neg
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)

27. What is variable expression and What is an example
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Nature and severity of phenotype vary from 1 individual to another - NF type 1
G6PD

28. What does a southern blot use as its sample
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Euchromatin
Dec DNA - dec lymphos leads to SCID
DNA

29. caf
Neurofibromatosis type 1 (von Recklinghausens disease)
Stop codon is recognized by release factor - and completed protein is released from ribosome
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Carnitine acyltransferase I

30. What liberates glucose from glucose 6 P
Alpha and beta tubulin - dimers have two GTP bound
Avidin
Makes RNA primer on which DNA poly III can initiate replication
Glucose 6 phosphatase

31. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
Krabbes - galactocerebrosidase - galactocerebroside - AR
Liver hepatocytes and steroid producing cells of the adrenal cortex
Transmitted only through mother - all offspring of affected females may show signs of disease
PCR - denaturation - annealing - elongation

32. What kind of branches do glycogen branches have
G6PD
Dopa decarboxylase
Alpha 1 -6 and alpha 1 -4
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)

33. Milder form of type I with nl blood lactate levels - dz and enzyme

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34. What is Gowers maneuver
Assistance of upper extremities to stand up
No
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Seals.

35. What does cytokeratin stain for
Schwann cells - lens - retina - kidneys
Myeloperoxidase
Epithelial cells
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver

36. What 3 amino acids are necessary for purine synthesis
Alpha - ketoglutarate dehydrogenase complex
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Glycine - aspartate - glutamine

37. What do neurofilaments stain for
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
Neurons
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
2 rings

38. What is trimming
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Removal of N or C termal propeptides from zymogens to generate mature proteins
Cyclin dependent kinases;constitutive and inactive

39. How is ammonium transported from muscle to the liver for urea cycle
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
B100
Ribose 5- P to PRPP
Mucus secreting globlet cells and antibody secreting plasma cells

40. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
Lactate
CFTR gene - 7 - Phe 508
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Glucose -6 phosphate

41. What is the hardy weinberg allele prevalence
Methionine encode by only 1 codon (AUG)
1 kind with multiple subunits
P+q = 1
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects

42. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
PMNs
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
FAP
Acetly- CoA - CO2 - NADH

43. 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
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
SAM
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
BOne

44. When are glycogen reserves depleted
75 to 90 - cloverleaf
Core proteins
Failure to track objects or develop a social smile
After day 1

45. What is the composition of urea and where do each part derive from
SAM
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
NADH - NADPH - FADH2
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase

46. In eukaryotes - What does RNA poly III make
TRNA
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Tyrosine

47. What is the amino acid precursor for porphyrin and heme
APKD1 on chromosome 16
Males are infertile due to bilateral absence of vas deferens
Glycogen synthase
Glycine

48. What enzyme def can cause emphysema
Base + ribose + phosphate (3' -5') phosphodiester bond
Alpha1 antitrypsin
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
Neg to pos

49. What does the mutation in the gene cause in protein synthesis
Neurons
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Abnormal protein folding - degradation before reaching cell surface
Makes RNA primer on which DNA poly III can initiate replication

50. Why can't even chain fatty acids produce new glucose
They yield only acetyl - CoA equivalents
Prevent strands from reannealing
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Disease

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Biochemistry

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