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Biochemistry

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1. Which are the acidic amino acids
Karyotyping
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Asp and Glu
CAG - 4

2. cytoskeletal elements associated with vimenentin - desmin - cytokeratin - glial fibrillary acid protiens (GFAP) - neurofilaments
Intermediate filaments
Foliage - small reserve in liver - eat green leaves
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
32 - malate aspartate shuttle

3. What does apoB100 do
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Binds to LDL receptor - mediates VLDL secretion
Dermatitis - alopecia - enteritis
Carbomoyl phosphate synthetase II

4. What is trimming
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
GAA
Removal of N or C termal propeptides from zymogens to generate mature proteins
5' of the incoming nucleotide

5. What are the findings in Down's syndrome
ATP
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
Rotenone - CN- - antimycin A - CO
Unwinds DNA template at replcation fork

6. Giving folate during early pregnancy is important to prevent what birth defects
Alkaptonuria - may have debiliating arthralgias
PMNs
Neural tube
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR

7. What does a decrease in decrease in NADPH lead to and why
Muscle
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Inc Cl - in sweat
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

8. In what cell is collagen synthesis initiated
Fibroblast
Mcardle's - skeletal muscle glycogen posphorylase
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Marfans

9. Type IV collagen is an important structural componenet of the BM for which 3 organs
Failure to track objects or develop a social smile
CarTWOlage
Kidney - ears - eyes
L form

10. What is NADPH used for
Removal of N or C termal propeptides from zymogens to generate mature proteins
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Eu - methionine - pro - formyl - methionine
Anabolic processes as a supply of reducing equivalents

11. What happens with wet beriberi
Ketone - methyl
High output cardiac failure - dilated cardiomyopathy - edema
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Attachment of ubiquitin to defective proteins tag them for breakdown

12. caf
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Neurofibromatosis type 1 (von Recklinghausens disease)
Ca/calmodulin in muscle to coordinate with muscle activity
Catabolic processes to carry reducing equivalents away as NADH

13. What is the RDE of cholesterol synthesis
PMNs
40 - 60 - 80
HMG- CoA reductase
B100

14. Which direction does kinesin go
4 under the floor
Acetyl - CoA
Neg to pos
X linked frame shif mutation

15. What is Retin A used topically for
Wrinkles and acne
Peroxide
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL

16. What causes biotin def
Schilling test
Malapsorption syndromes like sprue or CF or mineral oil intake
Antibiotic use or excessive ingestion of raw eggs
SNP

17. Which aspect of the spliceosome do patients with lupus make antibodies against
SnRNPs
Terminal regions - tropocollagen
Inhibits the Na/K pump by binding the K side
Glucose - 2Pi - 2ADP - 2NAD+

18. How do odd chain fatty acids participate in gluconeogenesis
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis

19. What happens in vit K def
After day 1
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
Type II
Neonatal hemorrhage with inc PT and PTT - but nl bleeding time - can also occur after prolonged use of broad spectrum Abx

20. How does patients present with ADPKD
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
N to C
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Flank pain - hematuria - HTN - progressive renal failure

21. In which structures do you find microtubules
Flagella - cilia - mitotic spindles
Glycine
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
HMG- CoA reductase

22. What co - factors are required for the pyruvated dehydrogenase complex
APRT + PRPP
PFK - rate limiting enzyme
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra

23. What is axonemal dynein
Skin
After day 1
Disorder of aromatic amino acid metabolism
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

24. What is the RDE of glycogen synthesis
Inc insulin - dec cAMP - dec PKA
Zero
OTC has hyperammonemia - orotic aciduira does not
Glycogen synthase

25. What CETP do
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
SAM
DNA
Inc melt - dec fluidity

26. What happens to oxaloacetate in alcholism
Hereditary spherocytosis
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Von Gierke's - Pompe - Cori - McArdle

27. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
Removes phosphate group from substrate
Hyperlipidemia
CG- 3 > AT-2 - More CG content - melting point goes up
Defect in fibrillin

28. what disease can cause pellagra
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
GAA
Stored ATP - creatine phosphate - anaerobic glycolysis
Breaks down acyl - coa to acetyl coa groups in mito

29. 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
X linked frame shif mutation
Core proteins
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP

30. Of the four possible fates for pyruvate - which one is a transition from glycolysis to TCA cycle
Scrutinizes - hydrolyzes the bond
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Nonsense > missense > silent
Acetyl - CoA

31. How do stable (quiescent) cells grow and regenerate and What are examples
Marfans
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Active secretion in lungs and GI - reabsorbs in skin

32. Acetyl - CoA carboxylase catalyzes what rxn
Ile - phe - thr - trp
Degradation of TG stored in adipocytes
NF2 on chromosome 22
Acetyl - CoA to malonyl - CoA (2C to 3C)

33. What is the RDE of fatty acid synthesis
Acetyl - CoA carboxylase (ACC)
Supply sufficient glucose to brain and RBCs and to preserve protein
Comlex II
LCAT (lecithin cholesterol acyltransferase)

34. What do neurofilaments stain for
Malapsorption syndromes like sprue or CF or mineral oil intake
Neurons
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
CAG - 4

35. What happens at the smooth ER
Site of steroid synthesis and detoxification of drugs and poisons
MEN - 2A and 2B with ret gene
Binds 50S - blocking translocation
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

36. What happens in zinc def
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells

37. What does an umabiguous genetic code refer to...
Acetyl - CoA to malonyl - CoA (2C to 3C)
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Each codon specifies only 1 amino acid

38. What is the most abundant type of RNA
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
RRNA
Microarrays
Cyclin dependent kinases;constitutive and inactive

39. What is the amino acid precuror for creatine - urea and nitric oxide
Foliage - small reserve in liver - eat green leaves
Cytosol
Liver hepatocytes and steroid producing cells of the adrenal cortex
Arginine

40. Which direction does dynein go
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Post to neg
Oral uridine administration

41. What two pathways is carbomoyl phosphate involved in - and what enzyme deficiency leads to a build of carbamoyl phosphate leading to what element in pyrimidine synthesis
Rb and p53
Acetyl - CoA
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway
Inc Cl - in sweat

42. What causes Marfan syndrome
Transfers methyl units
Four
Defect in fibrillin
Carnitine acyltransferase I

43. What are the findings in Lesch - Nyhan
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Result from phagocytic removal of heinz bodies my macs - G6PD def
Liver hepatocytes and steroid producing cells of the adrenal cortex
Palate - facial and cardiac defects

44. What causes Down syndrome
Von Gierke's - Pompe - Cori - McArdle
Antibiotic use or excessive ingestion of raw eggs
ATP hyrdolysis couple to energetically unfavorable rxns
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21

45. developmental delay - gargoylism - airway obstruction - corneal clouding - hepatosplenomegaly
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Read from a fixed starting point as a continuous sequence of bases
Dermatitis - enteritis - alopecia - adrenal insuff

46. What enzyme adds Cl - to the H202 to makes bleach
Myeloperoxidase
P+q = 1
Foliage - small reserve in liver - eat green leaves
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)

47. What does the golgi add to serine and threonine residues
Chylomicrons
O- oligosaccharaides
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
N to C

48. spheroid RBCs due to spectrin or ankyrin defect - hemolytic anemia - inc MHCH - splenectomy is curative
Dec DNA - dec lymphos leads to SCID
IDL
Hereditary spherocytosis
Brittle bone disease - most commonly lead AD with abnl type I collagen causing multiple fractures with minimal trauma - blue sclerae due to translucency of connective tissue over the choroid - hearing loss - dental imperfections due to lack of dentin

49. What is the energy source for tRNA actication (charging)
ATP
UDP glucose pyrophosphorylase
Two
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first

50. What substance inside the cells replenishes NADPH
Transmitted only through mother - all offspring of affected females may show signs of disease
Mucus secreting globlet cells and antibody secreting plasma cells
Oxidized hemoglobin precipiated within RBCs
G6PD

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Biochemistry

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