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Biochemistry

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1. Fluorescent DNA or RNA probe binds to specific gene of interest - used for specific localization of genes and direct visualization of anomalies - like microdeletions - at molecular level
FISH
Neuralgia
Oxalacetate
Fasting

2. What are the only purely ketogenic amino acids
Lysine and leucine
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
RRNA

3. What converts DOPA to dopamine
Dopa decarboxylase
Fibrofatty replacement of muscle - cardiac myopathy
Supply sufficient glucose to brain and RBCs and to preserve protein
Met - val - arg his

4. facial lesions - hypopigmented 'ash leaf spots -' cortical and retinal hamartomas - seizures - mental retardation - renal cysts - renal angiomyolipomas - cardiac rhabdomyomas - inc risk of astrocytomas
PFK - rate limiting enzyme
Poly A polymerase - signal is AAUAA
Tuberous sclerosis
EtOH dehydrogenase and acetaldehyde dehydrogenase

5. What does a phosphorylase do
Degradation of TG stored in adipocytes
9+2 arrangement of microtubules
Acetyl - CoA to malonyl - CoA (2C to 3C)
Adds an inorganic phosphate onto substrate without using ATP

6. What does fomepizole do
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Phenylketones in urine
HMG- CoA (HMG- CoA to mevalonate
Read from a fixed starting point as a continuous sequence of bases

7. Eukaryotic and prokaryotic DNA synthesis is blank and involves both blank and blank strands
EtOH dehydrogenase and acetaldehyde dehydrogenase
Semiconservative - continuous and discontinuous strands (okazaki fragments)
TRNA
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

8. What is the target of the 3' hydroxyl attack
Antioxidant - protects RBCs and membrances from free radical damage
The triphosphate bond
2pq
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase

9. characterize x linked dominant
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Leu - lys
B-100 - CII and E
Fabrys - alpha galactosidase A - ceramide trihexoside - XR

10. Why does alpha amanitin cause liver failure and Where is it found
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Inhibits RNA polymerase II - found in death cap mushrooms

11. What do B- complex vitamin deficiencies often result in
Dermatitis - glossitis - and diarrhea
3' end (with CCA)
Acetly- CoA - CO2 - NADH
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

12. What are CDKs
MRNA - tRNA
Cyclin dependent kinases;constitutive and inactive
DsRNA promotes degradation of target mRNA knocking down gene expression
17 - 17 letters in von Recklinghausen

13. What is the composition of urea and where do each part derive from
HDL
Orotate precursor - with PRPP added later
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate

14. recurrent pulmonary infxns in CF are due to what organisms
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
Pseudomonas and s aureus
NAD+
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR

15. Where is glucose 6 phosphatase found and What does it do
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
In ER - glucose 6- P to glucose
Peroxide
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

16. What is the main source of folate
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
UDP glucose pyrophosphorylase
Foliage - small reserve in liver - eat green leaves
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes

17. What is codominance and give an example
Neither of 2 alleles is dominant - blood groups
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
30 - glycerol -3- phosphate shuttle
Change resulting in early stop codon

18. Delivers hepatic cholesterol to peripheral tissues - formed by LPL modification of VLDL in the peripheral tissue - taken up by target cells via RME
LDL
HDL
Liver and leafy veggies
Lacks glucose 6 phophatase

19. What does hartnups disease cause
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
SAM
Phenylketones in urine
Exercise: inc NAD/NADH - inc ADP - inc Ca

20. in a 100 meter sprint Where does energy come from
Stored ATP - creatine phosphate - anaerobic glycolysis
III - joint dislocation - anuerysms - organ rupture
32 - malate aspartate shuttle
Glycogen synthase

21. Leysh - Nyhan syndrome is a defect in which enzyme and What are the biochemical results
Liver - ovaries - seminal vesicles
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
HGPRT - defective purine salvage - excess uric acid production
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase

22. What catacholamine step is SAM required for
Conversion of NE to epi
9+2 arrangement of microtubules
BOne
Niacin - constituent of NAD and NADP - derived from tryptophan

23. Is there any requirement for homology in NHEJ
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Protective against malaria
No - its non homologous
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly

24. Type I bone
Uses ATP to add high energy phophate group onto substrate
Cre - lox system
Type II
BOne

25. What is the fxn of vit D
Inc dicarboxylic acids - dec in glucose and ketones
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Accelearted muscle breakdown
Inc intestinal absorption fo calcium and phosphate - inc bone resorption

26. How does patients present with ADPKD
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Flank pain - hematuria - HTN - progressive renal failure
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Ile - phe - thr - trp

27. What is the Name and function of vit B1
Neurofibromatosis type 1 (von Recklinghausens disease)
Glycogen synthase
Glucose 6 phosphatase
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase

28. What does the CFTR channel do in the lungs - GI tract and skin
Active secretion in lungs and GI - reabsorbs in skin
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Carnitine shuttle - acyl - coa from cyto to mito
5' of the incoming nucleotide

29. What does apoB100 do
Rb and p53
Binds to LDL receptor - mediates VLDL secretion
MEN - 2A and 2B with ret gene
Creat a nick in the helix to relieave supercoils created during replication

30. delivers hepatic TGs to peripheral tissue - secreted by liver
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
VLDL
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Williams syndrome

31. What is disulfiram used for
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Vit K antagonist

32. What is the defect in cystinuria
B48 - AIV - CII - E
Orotic acid to UMP
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT

33. What does amino acid catabolsim results in the formation of what?
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted

34. What is the treatment for dec affinity of cystathionine synthase for pyroxidal phosphate
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Reads usual codon but inserts wrong AA
Inc vit B6
Fibroblast

35. What happens with wet beriberi
IDL
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
High output cardiac failure - dilated cardiomyopathy - edema

36. What components come together to make S- adenosyl methionine
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
ATP and methionine
Inc permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat
VLDL

37. Where do you find elastin and What does it do
VLDL
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Males are infertile due to bilateral absence of vas deferens
1 -25 OH2 D3 = calcitriol

38. Delivers dietary TGs to peripheral tissues - delivers cholesterol to liver in the form of remnants - mostly depleted of TGs - secreted by intestinal epith cells
Glycogen phosphorylase
Chylomicrons
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes

39. Which are the basic amino acids
1 kind with multiple subunits
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Arg - lys - his - arg is most basic - has has no charge at body pH

40. What happens to glycogen in the liver
ATP
Active secretion in lungs and GI - reabsorbs in skin
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation

41. What kind of RNA is transported out of the nucleus
Only processed RNA
Cofactor for LPL
Inc vit B6
CGG

42. Describe the pathophys of the aorta in a pt with marfans - and the eyes
2 -4 DNP - aspirin
TRNA
UDP glucose pyrophosphorylase
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses

43. What is the trinucleotide repeat in fragile X
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
CGG
Collagen
Adds 2 carbon with the help of biotin

44. characterize autosomal domint inheritance
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
O- oligosaccharaides
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty

45. depression - progressive dementia - choreiform movements - caudate atrophy and dec levels of GABA and ACH in the brain
Huntingtons
Oxidized hemoglobin precipiated within RBCs
Phosphorylation - glycosylation - hydroxylation
Males are infertile due to bilateral absence of vas deferens

46. What are the results of CF on male fertility
Neurons
Males are infertile due to bilateral absence of vas deferens
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
25OHD3

47. What is the RDE of the urea cycle
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Karyotyping
P+q = 1
Carbomoyl phosphate synthetase I

48. What is the breakdown product of epi
Basement membrane or basal lamina
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Metanephrine

49. What is the name is fxn of vit B3
ATP
Modifies N- oligosaccharides
Inc vit B6
Niacin - constituent of NAD and NADP - derived from tryptophan

50. What is the function of Zinc
5' of the incoming nucleotide
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Fasting

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Biochemistry

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