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Biochemistry

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1. 90% of ADPKD cases are due to a mutation In what gene
Procollagen - triple helix of 3 alpha collagen chains
NAD+
APKD1 on chromosome 16
X linked frame shif mutation

2. What are the two transgenic strategies in mice
Failure to track objects or develop a social smile
Collagen
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
In ER - glucose 6- P to glucose

3. How do fluoroquinolones work
Oxidative and nonoxidative - no ATP produced or used
Site of steroid synthesis and detoxification of drugs and poisons
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Consesus sequenec of base pairs

4. Which anticancer drugs work on microtubules
Phosphorylation - glycosylation - hydroxylation
Vincritsine/vinblastine
Alpha1 antitrypsin
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

5. What is the trinucleotide repeat in fragile X
P+q = 1
Tropoelastin with fibrillin scafolding
Sucrose = glucose + fructose - lactose = glucose + galactose
CGG

6. What is pseudohypertrophy in the calf a result of - and What are the cardiac manifestations
Fibrofatty replacement of muscle - cardiac myopathy
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Ca/calmodulin in muscle to coordinate with muscle activity
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

7. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
Rotenone - CN- - antimycin A - CO
Free ribosomes
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
CFTR gene - 7 - Phe 508

8. 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
Ribos first then deoxyribos with ribonucleotide reductase
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Night blindness - dry skin

9. What tissues have only aldose reductase
Schwann cells - lens - retina - kidneys
Biotin
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O

10. What causes patau's syndrome and What is it
Uses ATP to add high energy phophate group onto substrate
APC on chromosome 5
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase

11. What apolipoprotiens are on VLDL
Reads usual codon but inserts wrong AA
1 ring
B-100 - CII and E
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

12. What collagen type is most frequently affected in ehlers danlos and What are common complications
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
CGG
III - joint dislocation - anuerysms - organ rupture
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)

13. What are the products for glycolysis
2pq
Tryosine hydroxylase
3' end (with CCA)
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O

14. What are the 3 AR forms of homocystinuria
Specific glycosylases - AP endonuclease
Fasting
Zero
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def

15. How does OTC def present
Cytosol
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
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Marasmus - muscle wasting

16. What does apoB100 do
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
1 ring
Binds to LDL receptor - mediates VLDL secretion
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease

17. Which direction does kinesin go
Neg to pos
Wrinkles and acne
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates

18. What converts tyrosine to DOPA
32 - malate aspartate shuttle
Tryosine hydroxylase
Tryptophan
Glycogen synthase

19. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
Euchromatin
In ER - glucose 6- P to glucose
HDL
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR

20. What enzyme converts phenylalanine to tyrosin
Familial hypercholesterolemia - hyperlipidemia type IIA
Uses ATP to add high energy phophate group onto substrate
Collagen
Phenylalanine hydroxylase

21. How does insulin inhibit glycogenolysis
Zero
They yield only acetyl - CoA equivalents
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Familial hypercholesterolemia - hyperlipidemia type IIA

22. What are pyrimidines made from
Rotenone - CN- - antimycin A - CO
Orotate precursor - with PRPP added later
Phosphorylation - glycosylation - hydroxylation
DsRNA promotes degradation of target mRNA knocking down gene expression

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

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24. What does lactase deficiency cause
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer

25. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
Leu - lys
PMNs
Ribos first then deoxyribos with ribonucleotide reductase
DNA

26. What does Citrate Is Krebs starting substrate for making oxaloacetate
Microtubules
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
Lactate
Connective tissue

27. What is the defect in I- hyperchylomicronemia
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Glutamine PRPP amidotransferase
Dopamine beta hydroxylase
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

28. What trinucleotide repeat in Huntingtons and what chromosome is it found on...
9+2 arrangement of microtubules
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
CAG - 4
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs

29. depression - progressive dementia - choreiform movements - caudate atrophy and dec levels of GABA and ACH in the brain
32 - malate aspartate shuttle
Huntingtons
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
RER

30. 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
Hypoxanthine to xanthing and xanthine to uric acid
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
After day 1

31. 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
Particular sequence of DNA where replicatino begins - may be single of multiple
Type II
Pseudomonas and s aureus
FISH

32. What converts DOPA to dopamine
Dopa decarboxylase
Mcardle's - skeletal muscle glycogen posphorylase
RRNA
Prokaryotic only - degrades RNA primer and fills in the gap with DNA

33. How is orotic aciduria inherited
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
IMP precursor
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
AR

34. Which part of the DNA binds RNA polymerase and multiple other TFs upstream from gene locus
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Promotor - TATA box - and CAAT box - AT rich
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss

35. Why is G6PD def more common among patients of african decent
Prevent strands from reannealing
Protein
Glucose 6 phosphate dehydrogenase (G6PD)
Protective against malaria

36. What is the amino acid precursor for catecholamines
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Phenylalanine
Glycogenolysis to form glucose
Heterochromatin = HighlyCondensed

37. Type I bone
Achondroplasia
Vit K antagonist
9+2 arrangement of microtubules
BOne

38. What is the RDE of glycogenolysis
Glycogen phosphorylase
Adds 2 carbon with the help of biotin
HMG- CoA reductase
Arginine

39. What does amino acid catabolsim results in the formation of what?
Base + ribose + phosphate (3' -5') phosphodiester bond
Acetly- CoA - CO2 - NADH
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Foliage - small reserve in liver - eat green leaves

40. nucleotide repeat for fragile x
Attachment of ubiquitin to defective proteins tag them for breakdown
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
CGG
No

41. What is the activated carrier for aldehyddes
Phenylketones in urine
Adds an inorganic phosphate onto substrate without using ATP
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
TTP

42. What defects characterize DiGeorge syndrome
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Thymic - parathyroid and cardiac
Isocitrate dehydrogenase

43. 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
Inhibits the Na/K pump by binding the K side
Consesus sequenec of base pairs
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Williams syndrome

44. What enzyme results in classic galactosemia and What is the clinical
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Achondroplasia
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Inhibit DNA gyrase specific for prokaryotic topoisomerase

45. What is the RDE of the urea cycle
Carbomoyl phosphate synthetase I
Cleft palate - cardiac abnl - pregs test
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Fructose 1 -6 bisphosphate

46. What is the prevalence of an X- linked recessive disease in males and in females
Elastase - inhibited by alpha1 antitrypsin
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Q -
Glycogen synthase

47. What enzyme becomes essential in PKU
Schilling test
Tyrosine
Cartilage - hyaline - vitreous body - nucleus pulposus
Oxalacetate

48. What are ketone bodies made from - where are they metabolized and how are they excreted
Biotin
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine

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

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50. What tissue samples are used for karyotyping
Blood - bone marrown - amniotic fluid - placental tissue
Anabolic processes as a supply of reducing equivalents
Same AA - often base change in 3rd position of codon (tRNA wobble)
Liver - also in kidney and gut epithelium

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Biochemistry

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