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Biochemistry

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Answer 50 questions in 15 minutes.
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Match each statement with the correct term.
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1. What metabolic rxns occur in the cytoplasm
Disease
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
ADPKD

2. How does warfarin work
Vit K antagonist
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
BOne
Males are infertile due to bilateral absence of vas deferens

3. What is the RER called in neurons and What is made there
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
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
Nissl body - enzyme and NTs
NAD+

4. progressive neurodegeneration - hepatosplenomegaly - cherry red spot on macula - foam cells
F16BP
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Result from phagocytic removal of heinz bodies my macs - G6PD def

5. What substance inside the cells replenishes NADPH
The triphosphate bond
Degredation of dietary TG in small intestine
G6PD
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

6. What is the Hardy Weinberg disease prevalence equation
P2 +2pq+ = 1
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Removal of N or C termal propeptides from zymogens to generate mature proteins
Inc intestinal absorption fo calcium and phosphate - inc bone resorption

7. 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
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
Glycolysis and aerobic respiration
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Williams syndrome

8. What makes up a nucleotide

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9. What do DNA topoisomerases do
Creat a nick in the helix to relieave supercoils created during replication
Night blindness - dry skin
Kidney - ears - eyes
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

10. What is the fxn of vit D
RRNA
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Adenosine to inosine

11. What is NADPH used for
Connective tissue
Anabolic processes as a supply of reducing equivalents
Ribos first then deoxyribos with ribonucleotide reductase
Males are infertile due to bilateral absence of vas deferens

12. what happens in acyl coa dehyrdogenase def
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Neural tube
Inc dicarboxylic acids - dec in glucose and ketones
One

13. Why can't even chain fatty acids produce new glucose
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
They yield only acetyl - CoA equivalents
F16BP
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT

14. several distinct syndromes characterized by familial tumors of endocrine glands including pancreas - parathyroid - pituitary - thryoid and adrenal medulla - disorders and gene association
Must be both activated and inactivated for cell cycle to progress
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
MEN - 2A and 2B with ret gene
ATP

15. What does a northern blot use as its sample
RNA
Adenosine to inosine
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Marasmus - muscle wasting

16. What does hormone sensitive lipase do
SnRNPs
Degradation of TG stored in adipocytes
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Malonyl coa

17. What does degenerate/rundant genetic code refer to...
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
More than 1 codon may code for the same amino acid
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
AR

18. central and peripheral demyelination with ataxia and dementia
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
LCAT (lecithin cholesterol acyltransferase)
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -

19. What is Gowers maneuver
Disorder of aromatic amino acid metabolism
Base + ribose + phosphate (3' -5') phosphodiester bond
Assistance of upper extremities to stand up
Prokaryotic only - degrades RNA primer and fills in the gap with DNA

20. What induces pyruvate kinase
Pyruvate - NAD+ - CoA
Mediates extra remnant take up
Silencers
F16BP

21. What is the name is fxn of vit B3
Niacin - constituent of NAD and NADP - derived from tryptophan
Base + ribose + phosphate (3' -5') phosphodiester bond
Exercise: inc NAD/NADH - inc ADP - inc Ca
B100

22. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
After citruline
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Dec DNA - dec lymphos leads to SCID

23. What is the defect in I- hyperchylomicronemia
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Epithelial cells
Histidine
Degredation of TG circulating in chylomicrons and VLDLs

24. What rxn does propionyl - CoA carboxylase catalyze
Peroxide
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Binds to LDL receptor - mediates VLDL secretion
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step

25. What is the structure of elastin
Tropoelastin with fibrillin scafolding
Particular sequence of DNA where replicatino begins - may be single of multiple
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Pyruvate to oxaloacetate (3C to 4C)

26. What is the RDE of fatty acid synthesis
Poly A polymerase - signal is AAUAA
Exercise: inc NAD/NADH - inc ADP - inc Ca
Acetyl - CoA carboxylase (ACC)
GTP

27. Name 5 drugs that interfere with nucleotide synthesis
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
DsRNA promotes degradation of target mRNA knocking down gene expression
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Particular sequence of DNA where replicatino begins - may be single of multiple

28. The golgi apparatus fxns as a distribution center between what organelles in the cell and What does it process
IMP precursor
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15

29. What does a carboxylase do
Adds 2 carbon with the help of biotin
Metanephrine
RER
APC on chromosome 5

30. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
Glucose 6 phosphatase
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Alpha 1 -4 glucosidase
30 - glycerol -3- phosphate shuttle

31. What does GFAP stain for
Asp and Glu
SAM
Glutamate
Neuralgia

32. What is the amino acid precuror for creatine - urea and nitric oxide
Arginine
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Inc dicarboxylic acids - dec in glucose and ketones
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine

33. What apolipoprotiens are on VLDL
B-100 - CII and E
Alpha 1 -4 glucosidase
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Ketone - methyl

34. How do tetracyclines work
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
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus

35. What is the treatment for dec affinity of cystathionine synthase for pyroxidal phosphate
Alanine
Kidney - ears - eyes
Inc vit B6
Glycogen phosphorylase

36. What lab technique is use to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments
Microarrays
B6
Zero
GAA

37. What is a missense mutation
Changed AA (convservative - new AA is similar in chemical structure)
B48 - AIV - CII - E
Oxidizes substrate
Enhancers

38. What co - factors are required for the pyruvated dehydrogenase complex
Initiate chains
Achondroplasia
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Acetoacetate and beta hydroxybutyrate

39. How does insulin inhibit glycogenolysis
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Sulfation
Tryptophan
Glutamine PRPP amidotransferase

40. What is the pathway in the fed state leading to dec FBPase -2 and inc PFK-2
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Thymic - parathyroid and cardiac
Inc insulin - dec cAMP - dec PKA
Neg to pos

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

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42. What does vit C def cause
32 - malate aspartate shuttle
Lysine and arginine
Alpha 1 -6 and alpha 1 -4
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response

43. What does pancreatic lipase do
Base + ribose
Phosphorylation - glycosylation - hydroxylation
Unmethylated - newly synthesized - HNPCC
Degredation of dietary TG in small intestine

44. What produces NADPH
Foliage - small reserve in liver - eat green leaves
HMP shunt
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
In ER - glucose 6- P to glucose

45. What are the findings with homocystinuria and What amino acid is needs to be supplemented
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
SnRNPs and other proteins
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
Arg and his inc in histones Which bind negatively charged DNA

46. What converts DOPA to dopamine
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Niacin - constituent of NAD and NADP - derived from tryptophan
Dopa decarboxylase
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

47. What enzyme converts phenylalanine to tyrosin
Phenylalanine hydroxylase
MRNA
Oxidative and nonoxidative - no ATP produced or used
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome

48. 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
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Lysine and leucine
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra

49. What apolipoproteins are on IDL
RRNA
B100 and E
Coenzyme A - lipoamide
Malonyl coa

50. What are cyclin - CDK complexes
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Must be both activated and inactivated for cell cycle to progress
ATP - citrate
Bind 30s subunit preventing attachment of aminoacyl - tRNA