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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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This is a study tool. The 3 wrong answers for each question are randomly chosen from answers to other questions. So, you might find at times the answers obvious, but you will see it re-enforces your understanding as you take the test each time.

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

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2. What chromosome is the NF gene on...
17 - 17 letters in von Recklinghausen
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Proline and glycine (non glycosylated forms)
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine

3. What does Alports syndrome cause and why
Wrinkles and acne
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
B100 and E
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

4. What is the amino acid precuror for creatine - urea and nitric oxide
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Orotic acid to UMP
LDL
Arginine

5. What causes maple syrup urine disease and What does it lead to...
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death
PMNs
Proline and lysine - vit C
Inc melt - dec fluidity

6. Where is PEP carboxykinase found - What does it do - and What does it require
Medial dorsal nucleus of thalamus - mamillary bodies
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
PCR - denaturation - annealing - elongation
Tryosine hydroxylase

7. How do stable (quiescent) cells grow and regenerate and What are examples
Peroxide
CG- 3 > AT-2 - More CG content - melting point goes up
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes

8. What is the fxn of vit E
B6
F16BP
Antioxidant - protects RBCs and membrances from free radical damage
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive

9. telangiectasia - recrrent epistaxis - skin discolorations - AVMs
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Locus heterogeneity - ocular albinism is x- linked recessive
THFs
Inc vit B6

10. Gene imprinting implies that How many alleles are active at a single locus
One
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Pyruvate - NAD+ - CoA
Mediates extra remnant take up

11. What test is used for B12 def
Fasting
Schilling test
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis

12. Type II cartilage
No
Pseudomonas and s aureus
CarTWOlage
VLDL

13. What happens with wet beriberi
17 - 17 letters in von Recklinghausen
High output cardiac failure - dilated cardiomyopathy - edema
VMA
Arginine

14. metaphse chromosomes are stained - ordered and numbered according to morphology - size - arm length ratio - banding pattern
Scrutinizes - hydrolyzes the bond
Rotenone - CN- - antimycin A - CO
Karyotyping
Phosphorylation - glycosylation - hydroxylation

15. What do the single stranded binding proteins do
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Heterochromatin = HighlyCondensed
Protective against malaria
Prevent strands from reannealing

16. nucleotide repeat for fragile x
Dopa decarboxylase
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
CGG
Alpha1 antitrypsin

17. What is the activated carrier for aldehyddes
TTP
SnRNPs
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes

18. What does fomepizole do
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Tropoelastin with fibrillin scafolding
Collagen
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning

19. inc glycogen in muscle but can't break it down - painful muscle cramps - myglobinuria with strenuous exercise - dz and enzyme

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20. What does a phosphorylase do
Transmitted only through mother - all offspring of affected females may show signs of disease
Adds an inorganic phosphate onto substrate without using ATP
Free ribosomes
Phenytoin - MTX - and sulfonamides

21. characterize mitochondrial inheritance
HMG- CoA reductase
Transmitted only through mother - all offspring of affected females may show signs of disease
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Glycine - aspartate - glutamine

22. What enzyme converts glucose 1 p to UDP glucose
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
Glucose -6 phosphate
UDP glucose pyrophosphorylase
Methionine encode by only 1 codon (AUG)

23. What enzyme adds Cl - to the H202 to makes bleach
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
Myeloperoxidase
Assistance of upper extremities to stand up
Muscle

24. What is the RDE of de novo purine synthesis
Tryosine hydroxylase
Glutamine PRPP amidotransferase
Carnitine shuttle - acyl - coa from cyto to mito
Actin and myosin

25. What is pseudohypertrophy in the calf a result of - and What are the cardiac manifestations
Hyperlipidemia
Fibrofatty replacement of muscle - cardiac myopathy
Blood - bone marrown - amniotic fluid - placental tissue
Wrinkles and acne

26. What apolipoprotein is on LDL
Microarrays
Phenylalanine hydroxylase
Specific glycosylases - AP endonuclease
B100

27. What is the rate determining enzyme (RDE) of glycolysis
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Phosphofructokinase 1
Uses ATP to add high energy phophate group onto substrate
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs

28. The golgi apparatus fxns as a distribution center between what organelles in the cell and What does it process
Sucrose = glucose + fructose - lactose = glucose + galactose
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
Conversion of NE to epi
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles

29. Where does gluconeogenesis primarily happen and What are other sites where the enzymes are located
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Alkaptonuria - may have debiliating arthralgias
Liver - also in kidney and gut epithelium
Proline and glycine (non glycosylated forms)

30. What substances induce phosphofructokinase
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
AMP - fructose 2 -6 BP
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells

31. How do labile celss grow and regenerate and What are examples
2 -4 DNP - aspirin
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Cleft palate - cardiac abnl - pregs test
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele

32. antbiotic controlled promoter to induciblly manipulate genes at specific developmental points
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
If pt inherits or develops a mutation in a tumor suppresor gene - the complementary allele must be deleted/mutated before cancer develops - not true of oncogenes - retinoblastoma
Cre - lox system

33. What is loss of heterozygosity and give an example
If pt inherits or develops a mutation in a tumor suppresor gene - the complementary allele must be deleted/mutated before cancer develops - not true of oncogenes - retinoblastoma
Purines= A - G pyrimidine = C - T (U)
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Basement membrane or basal lamina

34. What causes Down syndrome
Mitochondria
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def

35. What happens in vit D def
Degredation of dietary TG in small intestine
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Exons

36. What does inc phenylalanine lead to...
VLDL
They yield only acetyl - CoA equivalents
Phenylketones in urine
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

37. What does a defective Cl channel do
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Krabbes - galactocerebrosidase - galactocerebroside - AR
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Malapsorption syndromes like sprue or CF or mineral oil intake

38. What is incomplete penetrence and give an example
Peroxide
Not all individuals with a mutant genotype show the mutant phenotype
Cyclin dependent kinases;constitutive and inactive
Malabsorption and steatorrhea (ADEK)

39. Of the four possible fates for pyruvate - which ends anaerobic glycolysis as in RBCs - leukocytes - kidney medulla - lens - testes and cornea
Dopa decarboxylase
Pyruvate - NAD+ - CoA
Lactate
RRNA

40. What regulates whether FBPase -2 or PFK-2 is active
Reads usual codon but inserts wrong AA
Protein kinase A
Phosphofructokinase 1
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis

41. What happens in hyperammonemia
Four
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
17 - 17 letters in von Recklinghausen
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

42. Is there any requirement for homology in NHEJ
No - its non homologous
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
MRNA
Palate - facial and cardiac defects

43. What is the activated carrier for electrons
32 - malate aspartate shuttle
NADH - NADPH - FADH2
Orotic acid to UMP
Stored ATP - creatine phosphate - anaerobic glycolysis

44. What metabolic rxns occur in the mitochondria
Carnitine acyltransferase I
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Dec methionine - inc cystiene - inc B12/folate

45. What does apoCII do
Inc permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat
III - joint dislocation - anuerysms - organ rupture
Cofactor for LPL
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

46. What are cyclins
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Core proteins
Neurons
Fibrofatty replacement of muscle - cardiac myopathy

47. fibrillin defect leading to connective tissue disorder affecting skeleton - heart - and eyes
Marfans
Antioxidant - protects RBCs and membrances from free radical damage
ATP hyrdolysis couple to energetically unfavorable rxns
CGG

48. What does hepatic TG lipase do
Night blindness - dry skin
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Same AA - often base change in 3rd position of codon (tRNA wobble)
Degradation of TG remaining in IDL

49. What substances directly inhibit electron transport chain
FAP
Actin and myosin
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Rotenone - CN- - antimycin A - CO

50. congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosine to fumarate leading to dark connective tissue - brown pigmented sclera - urine turns black on standing - dz and worst complication
Alkaptonuria - may have debiliating arthralgias
Inc glucagon - inc cAMP - inc PKA
Enhancers
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible