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Biochemistry

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1. What else can phosphoylate phosphorylase kinase
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Mediates extra remnant take up
Ca/calmodulin in muscle to coordinate with muscle activity

2. What is the activated carrier for aldehyddes
5' of the incoming nucleotide
TTP
TRNA
Achondroplasia

3. Where are cytosolic and organellar proteins made
Free ribosomes
ATP
Degradation of TG remaining in IDL
GAA

4. What is the source of energy in the fasting state between meals
Ketone - methyl
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
1 -25 OH2 D3 = calcitriol
Inhibits 50S peptidyltransferase

5. What does the CFTR channel do in the lungs - GI tract and skin
Facial flushing
HDL
Glycolysis and aerobic respiration
Active secretion in lungs and GI - reabsorbs in skin

6. Why is albinism inheritnace varialbe due to...
Particular sequence of DNA where replicatino begins - may be single of multiple
Zero
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Locus heterogeneity - ocular albinism is x- linked recessive

7. What does primase do
Protein
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
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Makes RNA primer on which DNA poly III can initiate replication

8. Delivers dietary TGs to peripheral tissues - delivers cholesterol to liver in the form of remnants - mostly depleted of TGs - secreted by intestinal epith cells
Wernicke - korsakoff - dry and wet beriberi
Malapsorption syndromes like sprue or CF or mineral oil intake
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Chylomicrons

9. What is the RDE of glycogen synthesis
Glycogen synthase
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
Liver and leafy veggies
Adds an inorganic phosphate onto substrate without using ATP

10. What happens on the oxidative arm of the HMP shunt and What is the key enzyme
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
HMG- CoA reductase
Abnormal protein folding - degradation before reaching cell surface
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year

11. What happens in vit K def
Lactate
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Base + ribose

12. What is the amino acid precuror for creatine - urea and nitric oxide
5' to 3'
Grows slowly - collapses quickly
Arginine
Locus heterogeneity - ocular albinism is x- linked recessive

13. What does the TCA cycle produce per 1 acetyl CoA
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
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
17 - 17 letters in von Recklinghausen
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)

14. What are the complications/signs of familial hypercholesterolemia
Peroxide
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Oxidative is irreversible
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms

15. Broadly - What can cause fat - soluble vitamin deficiencies
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Degradation of TG stored in adipocytes
Malapsorption syndromes like sprue or CF or mineral oil intake
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes

16. What do albinism - ARPKD - CF - glycogen storage diseases - hemochromatosis - mucopolysaccharidoses (except Hunters) PKU - sickle cell - sphingolipodoses (except Fabrys) thalassemias have in common
Cre - lox system
Adds an inorganic phosphate onto substrate without using ATP
APKD1 on chromosome 16
Autosomal recessive diseases

17. what happens in acyl coa dehyrdogenase def
Dermatitis - enteritis - alopecia - adrenal insuff
Inc dicarboxylic acids - dec in glucose and ketones
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
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

18. What is a nonsense mutation
Ribos first then deoxyribos with ribonucleotide reductase
Change resulting in early stop codon
Glycolysis and aerobic respiration
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

19. How do macrolides and clindamycin work
NAD+
L form
Binds 50S - blocking translocation
Epithelial cells

20. Which step in the de novo purine and pyrimidine synthesis pathway requires aspartate - glycine - glutamine and THF
Medial dorsal nucleus of thalamus - mamillary bodies
B-100 - CII and E
Ribose 5- P to PRPP
Phenylethamolamine N methyl transferase

21. What test is used for B12 def
Phenylketones in urine
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Schilling test
Targets the proteins for lysosome

22. What happens in vit D def
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
MRNA
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells

23. nucleotide repeat for fragile x
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
B-100 - CII and E
Nine
CGG

24. What enzymes metabolize fatty acids and amino acids
Lysine and arginine
Assistance of upper extremities to stand up
Acetoacetate and beta hydroxybutyrate
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes

25. What are the purely ketogenic amino acids
Acetoacetate and beta hydroxybutyrate
Leu - lys
Dermatitis - glossitis - and diarrhea
Acetly- CoA - CO2 - NADH

26. Of the four possible fates for pyruvate - which one carries amino groups to liver from muscle
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
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
Alanine
Microarrays

27. cardiomegaly - systemic findings leading to early death - dz and enzyme

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28. What does arsenic do and What are th results of poisoning
Acetoacetate and beta hydroxybutyrate
CAG
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Marfans

29. What does glycosylation of pro alpha chian yield and What is the structure
Procollagen - triple helix of 3 alpha collagen chains
Flank pain - hematuria - HTN - progressive renal failure
Colchicine
Result from phagocytic removal of heinz bodies my macs - G6PD def

30. What 3 amino acids are necessary for purine synthesis
Glycine - aspartate - glutamine
Alkaptonuria - may have debiliating arthralgias
Karyotyping
Wobble

31. Pts with albinism are at inc risk For what cancer
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Read from a fixed starting point as a continuous sequence of bases
Purines= A - G pyrimidine = C - T (U)
Skin

32. The pyruvate dehydrogenase complex serves In what reaction: products
Tropoelastin with fibrillin scafolding
Acetly- CoA - CO2 - NADH
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
Antioxidant - protects RBCs and membrances from free radical damage

33. What is regeneration of methionine depedent on...
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
B12 and folate
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

34. What does vit B3 def result in
Acetly- CoA - CO2 - NADH
Accelearted muscle breakdown
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)

35. What substance inside the cells replenishes NADPH
Sucrose = glucose + fructose - lactose = glucose + galactose
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
G6PD
HMG- CoA reductase

36. What does hormone sensitive lipase do
Zero
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Degradation of TG stored in adipocytes
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond

37. What do the single stranded binding proteins do
RNA poly II
Prevent strands from reannealing
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Paclitaxel

38. How do odd chain fatty acids participate in gluconeogenesis
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Robertsonian translocation and mosaicism
Peroxide
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)

39. congenital microdeletion of long arm of chromosoe 7 with findings of elfin facies - mental retardation - hypercalcemia - well developed verbal skills - extreme friendliness with strangers - cardiovascular problems
Williams syndrome
Flagella - cilia - mitotic spindles
Promotor - TATA box - and CAAT box - AT rich
Malapsorption syndromes like sprue or CF or mineral oil intake

40. What is the activated carrier for Acyl
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Coenzyme A - lipoamide
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Arginine

41. 90% of ADPKD cases are due to a mutation In what gene
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE
APKD1 on chromosome 16
PCR - denaturation - annealing - elongation
Medial dorsal nucleus of thalamus - mamillary bodies

42. What does SAM do
RNA
Unmethylated - newly synthesized - HNPCC
RER
Transfers methyl units

43. What causes biotin def
Adds 2 carbon with the help of biotin
Leu - lys
Antibiotic use or excessive ingestion of raw eggs
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase

44. Give an example of a mitochondrial inherited disease
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
SAM
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles

45. What defects characterize DiGeorge syndrome
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
SnRNPs
Thymic - parathyroid and cardiac
Dec methionine - inc cystiene - inc B12/folate

46. Is there any requirement for homology in NHEJ
More than 1 codon may code for the same amino acid
No - its non homologous
Hypoxanthine to xanthing and xanthine to uric acid
Thymic - parathyroid and cardiac

47. What do neurofilaments stain for
OTC has hyperammonemia - orotic aciduira does not
Makes RNA primer on which DNA poly III can initiate replication
Neurons
Tryptophan

48. What is mosaicism and give an example
Occurs when cells in the body have different genetic makeup - can be germline mosaic - which may produce a disease that is not carried by parents somatic cells - lyonization - random X inactivation in females
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
CG- 3 > AT-2 - More CG content - melting point goes up
CAG - 4

49. RNA poly can't proofread - but What can it do
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Initiate chains
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

50. What catacholamine step is SAM required for
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Conversion of NE to epi
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly

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Biochemistry

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