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Biochemistry

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Answer 50 questions in 15 minutes.
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1. caf
Sucrose = glucose + fructose - lactose = glucose + galactose
Citrate - acetyl coa from mito to cyto
Neurofibromatosis type 1 (von Recklinghausens disease)
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light

2. Which antifungal drugs work on microtubules
Griseofulvin
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
NADPH
AR

3. What two pathways is carbomoyl phosphate involved in - and what enzyme deficiency leads to a build of carbamoyl phosphate leading to what element in pyrimidine synthesis
Degradation of TG stored in adipocytes
Inc Cl - in sweat
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
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

4. What does apoB48 do
Stored ATP - creatine phosphate - anaerobic glycolysis
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Mediates chylomicron secretion
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

5. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Mediates chylomicron secretion
B48 - AIV - CII - E
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Proton gradient

6. What is NADPH used for
BOne
Anabolic processes as a supply of reducing equivalents
Inc CPK and muscle biopsy
SnRNPs

7. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Wobble
Alpha - ketoglutarate dehydrogenase complex

8. How many ATP are created by aerobic metabolism of glucose in the heart and liver via what shuttle
MRNA
Degradation of TG stored in adipocytes
32 - malate aspartate shuttle
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1

9. Why is albinism inheritnace varialbe due to...
Neuralgia
Locus heterogeneity - ocular albinism is x- linked recessive
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
RNA

10. Giving folate during early pregnancy is important to prevent what birth defects
Phenylketones in urine
Targets the proteins for lysosome
Binds to LDL receptor - mediates VLDL secretion
Neural tube

11. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
Protein kinase A
II - VII - IX - X (1972) protein C and S
PFK - rate limiting enzyme
CFTR gene - 7 - Phe 508

12. Which part of the DNA binds RNA polymerase and multiple other TFs upstream from gene locus
Removes phosphate group from substrate
Alpha1 antitrypsin
Fructose 1 -6 bisphosphate
Promotor - TATA box - and CAAT box - AT rich

13. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Acetyl - CoA carboxylase (ACC)
Von Gierke's - Pompe - Cori - McArdle
30 - glycerol -3- phosphate shuttle

14. fibrillin defect leading to connective tissue disorder affecting skeleton - heart - and eyes
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Uses ATP to add high energy phophate group onto substrate
Sulfation
Marfans

15. What enzyme degrades a small amount of glycogen in lysosomes
Cre - lox system
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Chylomicrons
Alpha 1 -4 glucosidase

16. What is the most abundant type of RNA
RRNA
Nissl body - enzyme and NTs
Citrate - acetyl coa from mito to cyto
5' to 3'

17. What sugar is sorbitol converted to and via what enzyme - and What can happen in cells lacking this enzyme
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Dermatitis - enteritis - alopecia - adrenal insuff
Prevent strands from reannealing

18. What is the RDE of fatty acid synthesis
Active secretion in lungs and GI - reabsorbs in skin
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Acetyl - CoA carboxylase (ACC)

19. What does biotin def cause
B100 and E
Nine
Dermatitis - alopecia - enteritis
MRNA - tRNA

20. What polar group does guanine have - and what non polar group does thymine have
Pyruvate to oxaloacetate (3C to 4C)
Ketone - methyl
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year

21. What are the clinical features of I cell diesase
Terminal regions - tropocollagen
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Biotin
THFs

22. How does OTC def present
Stop codon is recognized by release factor - and completed protein is released from ribosome
Liver and leafy veggies
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
Q -

23. What does apoB100 do
Microtubules
Cyclin dependent kinases;constitutive and inactive
MRNA
Binds to LDL receptor - mediates VLDL secretion

24. What are the findings in Lesch - Nyhan
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Diphyllobothrium latum
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Miscarriage - stillbirth - chromosomal imbalance (down - patau)

25. What is the defect in cystinuria
The triphosphate bond
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
BOne
Q -

26. What are possilbe presentation for galactokinase def
HVA
Not all individuals with a mutant genotype show the mutant phenotype
Failure to track objects or develop a social smile
Tropoelastin with fibrillin scafolding

27. What is linkage disequilibrium
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Unmethylated - newly synthesized - HNPCC
O- oligosaccharaides

28. What are the mRNA stop codons
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
UGA - UAA and UAG
Free ribosomes

29. What is the exception to genetic redundancy
ATP hyrdolysis couple to energetically unfavorable rxns
Methionine encode by only 1 codon (AUG)
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects

30. What is the hardy weinber heterozygote prevalence
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Pyruvate - NAD+ - CoA
ATP - citrate
2pq

31. What kind of branches do glycogen branches have
Alpha 1 -6 and alpha 1 -4
Degradation of TG stored in adipocytes
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation

32. How many ATP are produced by anearobic glycolysis per molecule of glucose
P2 +2pq+ = 1
Mebendazole/thiabendazole
Two
Catabolic processes to carry reducing equivalents away as NADH

33. Patients with chronic granulomatous disease are at increased risk of infection From which kind of organisms
Purines= A - G pyrimidine = C - T (U)
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
III - joint dislocation - anuerysms - organ rupture
Grows slowly - collapses quickly

34. What happens in hyperammonemia
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
TRNA
Neurofibromatosis type 1 (von Recklinghausens disease)
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision

35. What are the characteristics of prader willi syndrome How does it occur
Tryptophan
Unmethylated - newly synthesized - HNPCC
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Neurofibromatosis type 1 (von Recklinghausens disease)

36. 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
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
RNA

37. What defects characterize DiGeorge syndrome
Rb and p53
TRNA
Result from phagocytic removal of heinz bodies my macs - G6PD def
Thymic - parathyroid and cardiac

38. What does arsenic do and What are th results of poisoning
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
No - its non homologous
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Williams syndrome

39. What converts dopamine to NE
African Americans and Asians
Dopamine beta hydroxylase
Fibrofatty replacement of muscle - cardiac myopathy
Polycystic liver disease - berry aneurysm - mitral valve prolapse

40. What does commaless - nonoverlapping genetic code refer to...
Facial flushing
Read from a fixed starting point as a continuous sequence of bases
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
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

41. A small proportion of Down syndrome is due to What two genetic events
Alanine
Robertsonian translocation and mosaicism
Glutamine PRPP amidotransferase
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin

42. What is the function and name of vit B6
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
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Avidin

43. Infection with what organism can cause B12 def
Diphyllobothrium latum
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Carbomoyl phosphate synthetase I

44. What does pancreatic lipase do
Ribose 5- P to PRPP
Degredation of dietary TG in small intestine
UGA - UAA and UAG
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side

45. What metabolic rxns occur in both the cytoplasm and mitochondria
Methionine encode by only 1 codon (AUG)
Seals.
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
SnRNPs

46. What is the trinucleotide repeat in fragile X
Degredation of dietary TG in small intestine
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
CGG
Phenytoin - MTX - and sulfonamides

47. What is the composition of urea and where do each part derive from
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
UGA - UAA and UAG
Fibrofatty replacement of muscle - cardiac myopathy
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate

48. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
FAP
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
PMNs

49. How do glucagon/epi lead to glycogenolysis
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Phenylalanine

50. What is the activated carrier for phosphoryl
X- linked recessive
ATP
Mediates chylomicron secretion
Alpha - ketoglutarate dehydrogenase complex

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Biochemistry

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