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Biochemistry

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Answer 50 questions in 15 minutes.
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1. What happens in hyperammonemia
OTC has hyperammonemia - orotic aciduira does not
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
CAG
Mcardle's - skeletal muscle glycogen posphorylase

2. What are covalent alterations
Transmitted only through mother - all offspring of affected females may show signs of disease
Phosphorylation - glycosylation - hydroxylation
HMG- CoA (HMG- CoA to mevalonate
Paclitaxel

3. 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
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Wobble
III - joint dislocation - anuerysms - organ rupture
CAG

4. What are the priorities for the body in fasting and starvation
TRNA
Schilling test
Supply sufficient glucose to brain and RBCs and to preserve protein
Achondroplasia

5. Of the four possible fates for pyruvate - which one is a transition from glycolysis to TCA cycle
Bind 30s subunit preventing attachment of aminoacyl - tRNA
FMR1 gene - methylation - associated with chromosomal breakage
Acetyl - CoA
Liver - ovaries - seminal vesicles

6. What 3 syndromes are associated with vit B1 def
G6PD
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
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Wernicke - korsakoff - dry and wet beriberi

7. depression - progressive dementia - choreiform movements - caudate atrophy and dec levels of GABA and ACH in the brain
Wrinkles and acne
CAG - 4
Huntingtons
ATP

8. Type I bone
BOne
Mental retardation - flat facies - prominent epicanthal folds - simian crease - gap between 1st 2 toes - duodenal atresia - congenital heart disease (ASD) - inc risk of All and Alzheimers
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Defect in fibrillin

9. What enzyme converts adenine to AMP
Hypoglycemia
APRT + PRPP
Oral uridine administration
Protective against malaria

10. What is a silent mutation
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Cleft palate - cardiac abnl - pregs test
Same AA - often base change in 3rd position of codon (tRNA wobble)
Oligomycin

11. What does beta oxidation do and Where does it occur
IDL
Breaks down acyl - coa to acetyl coa groups in mito
Pyruvate to oxaloacetate (3C to 4C)
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate

12. What does the TCA cycle produce per 1 acetyl CoA
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
9+2 arrangement of microtubules
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Isocitrate dehydrogenase

13. Which are the basic amino acids
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Dermatitis - enteritis - alopecia - adrenal insuff
Arg - lys - his - arg is most basic - has has no charge at body pH
Essential fructosuria - fructokinase AR

14. What is the Hardy Weinberg disease prevalence equation
Mediates extra remnant take up
Ile - phe - thr - trp
P2 +2pq+ = 1
Stored ATP - creatine phosphate - anaerobic glycolysis

15. How does patients present with ADPKD
Supply sufficient glucose to brain and RBCs and to preserve protein
Marasmus - muscle wasting
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Flank pain - hematuria - HTN - progressive renal failure

16. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
Lysine and leucine
Schilling test
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Skin

17. Type II cartilage
AMP - fructose 2 -6 BP
Glycogen phosphorylase
CarTWOlage
L form

18. What are the results of pancreatic insuff in CF
Malabsorption and steatorrhea (ADEK)
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Exercise: inc NAD/NADH - inc ADP - inc Ca

19. deletion of VHL gene on chromosome 3 leading to hemangioblastomas of retina/cerebellum/medulla bilateral RCC - dz and overexpression product
Von hippel lindau - 3
BOne
APC on chromosome 5
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive

20. Pts with albinism are at inc risk For what cancer
Skin
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
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Covalent cross - linking by lysyl oxidase to make collagen fibrils

21. What is the pathway in the fed state leading to dec FBPase -2 and inc PFK-2
Neural tube
PCR - denaturation - annealing - elongation
Inc insulin - dec cAMP - dec PKA
40 - 60 - 80

22. What causes Marfan syndrome
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Polycystic liver disease - berry aneurysm - mitral valve prolapse
THFs
Defect in fibrillin

23. What is the defect in I- hyperchylomicronemia
One
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Base + ribose

24. progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Schwann cells - lens - retina - kidneys
Inhibits RNA polymerase II - found in death cap mushrooms
VLDL

25. What are the clinical features of I cell diesase
Acetyl - CoA to malonyl - CoA (2C to 3C)
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Grows slowly - collapses quickly
African Americans and Asians

26. What causes Hartnup's disease
Acetyl - CoA carboxylase (ACC)
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Two
Cofactor for LPL

27. What causes Down syndrome
40 - 60 - 80
Ile - phe - thr - trp
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
HDL

28. What is the results of vit B1 def
Inc dicarboxylic acids - dec in glucose and ketones
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
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
One

29. How do fluoroquinolones work
Inc insulin - dec cAMP - dec PKA
Exons
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Acetyl - CoA to malonyl - CoA (2C to 3C)

30. Broadly - What can cause fat - soluble vitamin deficiencies
LCAT (lecithin cholesterol acyltransferase)
Malapsorption syndromes like sprue or CF or mineral oil intake
Phosphorylation - glycosylation - hydroxylation
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

31. What substances are uncouling agents
Kwashiorkor - small child with swollen belly
APC on chromosome 5
O- oligosaccharaides
2 -4 DNP - aspirin

32. Where does gluconeogenesis primarily happen and What are other sites where the enzymes are located
Terminal regions - tropocollagen
Medial dorsal nucleus of thalamus - mamillary bodies
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Liver - also in kidney and gut epithelium

33. What is the activated carrier for electrons
UGA - UAA and UAG
Unmethylated - newly synthesized - HNPCC
NADH - NADPH - FADH2
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome

34. What does biotin def cause
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Dermatitis - alopecia - enteritis
2pq
Tropoelastin with fibrillin scafolding

35. What produces NADPH
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
HMP shunt
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two

36. Leysh - Nyhan syndrome is a defect in which enzyme and What are the biochemical results
SNP
Huntingtons
HGPRT - defective purine salvage - excess uric acid production
Von Gierke's - Pompe - Cori - McArdle

37. Why can't even chain fatty acids produce new glucose
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
They yield only acetyl - CoA equivalents
Night blindness - dry skin
Glutamate

38. Which anti breast cancer drugs work on micortubules
Paclitaxel
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Phosphorylation - glycosylation - hydroxylation
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive

39. What metabolic rxns occur in the cytoplasm
Autosomal recessive diseases
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
Result from phagocytic removal of heinz bodies my macs - G6PD def
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)

40. What are pyrimidines made from
Orotate precursor - with PRPP added later
VMA
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
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein

41. What is the Name and function of vit B1
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Debranching enzyme
Accelearted muscle breakdown

42. What is the breakdown product of dopamine
HVA
Dopamine beta hydroxylase
By inhibiting formation of the initiation complex and cause misreading of mRNA
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

43. What are the names and sources of the two types of vit D found in nature
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Alpha 1 -4 glucosidase
Night blindness - dry skin
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA

44. What does a southern blot use as its sample
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
DNA
SAM
Polycystic liver disease - berry aneurysm - mitral valve prolapse

45. Where is glucose 6 phosphatase found and What does it do
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
In ER - glucose 6- P to glucose
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons

46. What is the smallest mutation a mircoarray can detect
One
Pyruvate - NAD+ - CoA
SnRNPs and other proteins
SNP

47. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Exerts a dominant effect - a heterozygote produces a nonfxnal altered protein that also prevents the normal gene from functioning - mutation of Tx factor its allosteric site - nonfxning mutant can still bind DNA - preventing wild type Tx from binding
Inc vit B6
Inc glucagon - inc cAMP - inc PKA

48. What does apoA 1 do
Mutated dystrophin gene - less severe - adolescence
Activates LCAT
Inc vit B6
Base + ribose

49. What enzyme adds Cl - to the H202 to makes bleach
Neither of 2 alleles is dominant - blood groups
Liver and leafy veggies
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Myeloperoxidase

50. Type IV BM
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Lactate
Oxidative is irreversible
4 under the floor

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Biochemistry

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