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Biochemistry

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Answer 50 questions in 15 minutes.
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1. peripheral neuropathy - developmental delay - optic atrophy - glopoid cells
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Poly A polymerase - signal is AAUAA
Krabbes - galactocerebrosidase - galactocerebroside - AR
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis

2. Type III collagen
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
IDL
Collagen

3. The pyruvate dehydorgenase complex serves In what reaction: reactants
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
NAD+
Ca/calmodulin in muscle to coordinate with muscle activity
Pyruvate - NAD+ - CoA

4. What does a defective Cl channel do
Specific glycosylases - AP endonuclease
Pyruvate - NAD+ - CoA
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

5. How is Lesch Neyhan inherited
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
X- linked recessive
Leu - lys
Neimann - pick - sphingomyelinase - sphingomyelin - AR

6. facial lesions - hypopigmented 'ash leaf spots -' cortical and retinal hamartomas - seizures - mental retardation - renal cysts - renal angiomyolipomas - cardiac rhabdomyomas - inc risk of astrocytomas
Tuberous sclerosis
Adds 2 carbon with the help of biotin
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
RNA

7. What does DNA poly III do?

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8. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
Neural tube
Williams syndrome
Initiate chains
Euchromatin

9. What tissues have both enzymes of sorbitol metabolism
X linked frame shif mutation
Liver - ovaries - seminal vesicles
Ribose 5- P to PRPP
Essential fructosuria - fructokinase AR

10. What does glycosylation of pro alpha chian yield and What is the structure
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Facial flushing
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Procollagen - triple helix of 3 alpha collagen chains

11. How do permanent cells grow and regenerate and What are examples of permanent cells
Transfers methyl units
G6PD
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Dec methionine - inc cystiene - inc B12/folate

12. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Arg - lys - his - arg is most basic - has has no charge at body pH
Marasmus - muscle wasting
Terminal regions - tropocollagen
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive

13. In addition to fructose and galactose - what sugards should be excluded from the diets of patients with disorders of fructose or galactose metabolism
CG- 3 > AT-2 - More CG content - melting point goes up
Sucrose = glucose + fructose - lactose = glucose + galactose
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Tuberous sclerosis

14. What does apoB48 do
CarTWOlage
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
Mediates chylomicron secretion
Particular sequence of DNA where replicatino begins - may be single of multiple

15. What is the breakdown product of NE
ATP and alanine
VMA
Rb and p53
Inc Cl - in sweat

16. What are the findings in Down's syndrome
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
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
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)

17. What is the amino acid precursor for porphyrin and heme
Huntingtons
Alpha - ketoglutarate dehydrogenase complex
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Glycine

18. pyruvate carboxylase catalyzes what rxn
Lysine and arginine
Pyruvate to oxaloacetate (3C to 4C)
Assistance of upper extremities to stand up
Removal of N or C termal propeptides from zymogens to generate mature proteins

19. What lab value can distinguish orotic aciduria from ornithine transcarbamoylase def?
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
APRT + PRPP
Phenytoin - MTX - and sulfonamides
OTC has hyperammonemia - orotic aciduira does not

20. What substances directly inhibit electron transport chain
APC on chromosome 5
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Rotenone - CN- - antimycin A - CO
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex

21. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
Cleft palate - cardiac abnl - pregs test
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Thymic - parathyroid and cardiac
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns

22. what happens in acyl coa dehyrdogenase def
Neurofibromatosis type 1 (von Recklinghausens disease)
Inc dicarboxylic acids - dec in glucose and ketones
Phenylalanine hydroxylase
Carbomoyl phosphate synthetase I

23. What does beta oxidation do and Where does it occur
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Karyotyping
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Breaks down acyl - coa to acetyl coa groups in mito

24. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Proton gradient
SAM
Familial hypercholesterolemia - hyperlipidemia type IIA
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year

25. What does CATCH 22 stand for and What causes is...
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Silencers
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination

26. What enzyme converts glucose 1 p to UDP glucose
Sucrose = glucose + fructose - lactose = glucose + galactose
Specific glycosylases - AP endonuclease
Lysine and arginine
UDP glucose pyrophosphorylase

27. Which are the basic amino acids
HMG- CoA (HMG- CoA to mevalonate
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
HMG- CoA synthase
Arg - lys - his - arg is most basic - has has no charge at body pH

28. What catacholamine step is SAM required for
Silencers
Inc vit B6
CGG
Conversion of NE to epi

29. Describe the replication fork
Zero
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
Y shaped region along the DNA template where leading nad lagging strands are synthesized
The triphosphate bond

30. What 3 steps in RNA processing occur after transcription

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31. What happens in vit B2 def
Marasmus - muscle wasting
Removal of N or C termal propeptides from zymogens to generate mature proteins
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Site of steroid synthesis and detoxification of drugs and poisons

32. 1 g of protein or cabrohydrate = ?kcal
Four
APKD1 on chromosome 16
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Sons of heterozygous mothers have 1/2 half chance of being affected - no male to male transmission - and often more severe in males - heterozygous females may be affected

33. What is proteasomal degredation
Stop codon is recognized by release factor - and completed protein is released from ribosome
Attachment of ubiquitin to defective proteins tag them for breakdown
5' of the incoming nucleotide
F16BP

34. What are bite cells and when do you see them
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Result from phagocytic removal of heinz bodies my macs - G6PD def
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
CFTR gene - 7 - Phe 508

35. What shuttle is used in fatty acid degredation and What does it move and From where to where
Carnitine shuttle - acyl - coa from cyto to mito
Promotor - TATA box - and CAAT box - AT rich
Lysine and leucine
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

36. Type I bone
Paclitaxel
BOne
After day 1
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

37. What is the limiting reagent in EtOH metabolism
After day 1
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Oxidizes substrate
NAD+

38. What is NADPH used for
Sucrose = glucose + fructose - lactose = glucose + galactose
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
1 kind with multiple subunits
Anabolic processes as a supply of reducing equivalents

39. What are the priorities for the body in fasting and starvation
Supply sufficient glucose to brain and RBCs and to preserve protein
Removal of N or C termal propeptides from zymogens to generate mature proteins
Glucose 6 phosphate dehydrogenase (G6PD)
Von gierkes - glucose 6 phosphatase

40. What is Retin A used topically for
Rb and p53
Wrinkles and acne
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
LCAT (lecithin cholesterol acyltransferase)

41. trinucleotide repeat for huntingtons
CAG
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Polyneuritis - symmetrical muscle wasting
Phosphofructokinase 1

42. What is the Name and fxn of vit B12
CAG - 4
Proline and glycine (non glycosylated forms)
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

43. An inability to convert orotic acid to UMP would be caused by a deficiency either of which two enzymes

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44. Describe the structure of cilia
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
9+2 arrangement of microtubules
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns

45. What is the treatment for dec affinity of cystathionine synthase for pyroxidal phosphate
Cyclin dependent kinases;constitutive and inactive
Inc vit B6
PFK - rate limiting enzyme
Dermatitis - enteritis - alopecia - adrenal insuff

46. What is the RDE of TCA cycle
Isocitrate dehydrogenase
Karyotyping
Neural tube
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

47. What enzyme catalyzes the rxn from pyrvuate to Acetyl - CoA and what inhibits it
Arg and his inc in histones Which bind negatively charged DNA
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Fed

48. Which anti gout drugs work on microtubules
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
L form
Cyclin dependent kinases;constitutive and inactive
Colchicine

49. What ribosomes do prokaryotes have
30 - 50 - 70
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Alpha1 antitrypsin
Nonsense > missense > silent

50. Type II cartilage
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
CarTWOlage
Disease
Dermatitis - enteritis - alopecia - adrenal insuff

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Biochemistry

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