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Biochemistry

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1. What happens on the oxidative arm of the HMP shunt and What is the key enzyme
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Binds 50S - blocking translocation
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step

2. Where do you find elastin and What does it do
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor

3. What is the most abundant protein in the body
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
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
Pseudomonas and s aureus
Collagen

4. Where is fructose 1 -6 bisphosphatase found and What does it do
Binds 50S - blocking translocation
Stored ATP - creatine phosphate - anaerobic glycolysis
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side

5. Which direction does kinesin go
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Lacks glucose 6 phophatase
Neg to pos
Acetyl - CoA carboxylase (ACC)

6. What else can phosphoylate phosphorylase kinase
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Exons
Males are infertile due to bilateral absence of vas deferens
Ca/calmodulin in muscle to coordinate with muscle activity

7. What does aminoacyl tRNA synthetase do the AA before and after it binds to tRNA - and what happens if it's the wrong the match
Liver - ovaries - seminal vesicles
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
MRNA
Scrutinizes - hydrolyzes the bond

8. What is the RDE of de novo pyrimidine synthesis
B100 and E
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Carbomoyl phosphate synthetase II
Chronic granulomatous disease - no respiatory burst - no formatino of ROS

9. Do balanced translocations cause abnl phenotype
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Proton gradient
Exercise: inc NAD/NADH - inc ADP - inc Ca
No

10. Where is vit A found in the diet
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
Tryptophan
Acetyl - CoA carboxylase (ACC)
Liver and leafy veggies

11. What does beta oxidation do and Where does it occur
Inc CPK and muscle biopsy
Oxidative is irreversible
Breaks down acyl - coa to acetyl coa groups in mito
Biotin

12. spheroid RBCs due to spectrin or ankyrin defect - hemolytic anemia - inc MHCH - splenectomy is curative
Hereditary spherocytosis
Initiate chains
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Scrutinizes - hydrolyzes the bond

13. What is disulfiram used for
LCAT (lecithin cholesterol acyltransferase)
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
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
G6PD

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

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15. What does the golgi assemble proteoglycans from
Core proteins
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Histidine
Chronic granulomatous disease - no respiatory burst - no formatino of ROS

16. What catacholamine step is SAM required for
They yield only acetyl - CoA equivalents
Conversion of NE to epi
Inc vit B6
Mebendazole/thiabendazole

17. What are cyclins
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Rb and p53
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Methionine encode by only 1 codon (AUG)

18. What are the products for glycolysis
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Four
Degradation of TG remaining in IDL
30 - 50 - 70

19. What is the treatment for cystathionine synthase def
Phenytoin - MTX - and sulfonamides
Dec methionine - inc cystiene - inc B12/folate
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Bruton's agammaglobulinemia - wiskott - aldrich - fabrys disease - G6PD def - ocular albinism - Lesch - Nyhan syndrome - Duchenne and Becker Muscular Dystrophy - hunter's syndrome - hemophilia A and B

20. What lab technique is use to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Microarrays
Particular sequence of DNA where replicatino begins - may be single of multiple

21. What is kartageners syndrome
N to C
Targets the proteins for lysosome
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus

22. What are the 2 distinct phases of the HMP shunt and How many ATP are used and produced
Methionine encode by only 1 codon (AUG)
Met - val - arg his
Oxidative and nonoxidative - no ATP produced or used
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

23. characterize x linked dominant
Glycolysis and aerobic respiration
CAG - 4
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Facial flushing

24. What is mosaicism and give an example
40 - 60 - 80
Dermatitis - enteritis - alopecia - adrenal insuff
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
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

25. Infection with what organism can cause B12 def
Neurofibromatosis type 1 (von Recklinghausens disease)
Catabolic processes to carry reducing equivalents away as NADH
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Diphyllobothrium latum

26. delivers hepatic TGs to peripheral tissue - secreted by liver
Hypoxanthine to xanthing and xanthine to uric acid
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
VLDL
Tropoelastin with fibrillin scafolding

27. What substance inside the cells replenishes NADPH
CTG
Myeloperoxidase
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
G6PD

28. FAP is due to deletion On what gene On what chromosome
APC on chromosome 5
Flagella - cilia - mitotic spindles
CFTR gene - 7 - Phe 508
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy

29. What is the RER called in neurons and What is made there
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Ile - phe - thr - trp
Nissl body - enzyme and NTs
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis

30. hepatosplenomegaly - aseptic necrosis of femur - bone crisis - MACS that look like crumpled tissue paper

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31. What is the activated carrier for aldehyddes
Sucrose = glucose + fructose - lactose = glucose + galactose
TTP
BOne
Collagen

32. What is the TX for CF and What does it do
Exerts a dominant effect - a heterozygote produces a nonfxnal altered protein that also prevents the normal gene from functioning - mutation of Tx factor its allosteric site - nonfxning mutant can still bind DNA - preventing wild type Tx from binding
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Seals.

33. How do odd chain fatty acids participate in gluconeogenesis
Superoxide dismutase
VMA
Dopamine beta hydroxylase
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis

34. How is Lesch Neyhan inherited
Avidin
X- linked recessive
Oxidizes substrate
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR

35. What happens with dry beriberi
Polyneuritis - symmetrical muscle wasting
17 - 17 letters in von Recklinghausen
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Locus heterogeneity - ocular albinism is x- linked recessive

36. What causes Marfan syndrome
Glycogen phosphorylase
Defect in fibrillin
Protein kinase A
High output cardiac failure - dilated cardiomyopathy - edema

37. What do neurofilaments stain for
B12 and folate
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Neurons
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)

38. What enzyme catalyzes the rxn from pyrvuate to Acetyl - CoA and what inhibits it
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Antibiotic use or excessive ingestion of raw eggs
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)

39. protein malnutrition resulting in skin lesions - edema and liver malfxn
Kwashiorkor - small child with swollen belly
1 -25 OH2 D3 = calcitriol
Ribos first then deoxyribos with ribonucleotide reductase
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

40. What is the initial transcript called and What is the capped and tailed transcript called
Glutamate
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
CGG
Griseofulvin

41. What does vit C def cause
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine

42. Acetyl - CoA carboxylase catalyzes what rxn
Acetyl - CoA to malonyl - CoA (2C to 3C)
Arginine
2pq
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O

43. What metabolic rxns occur in the mitochondria
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
HMG- CoA (HMG- CoA to mevalonate

44. What enzyme degrades a small amount of glycogen in lysosomes
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Alpha 1 -4 glucosidase
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
Proton gradient

45. What is the activated carrier for Acyl
Coenzyme A - lipoamide
DNA
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Robertsonian translocation and mosaicism

46. Describe robertsonian translocation
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Oxalacetate
PMNs
Uses ATP to add high energy phophate group onto substrate

47. What two rxns in in glycolysis require ATP
Phosphorylation - glycosylation - hydroxylation
Adds 2 carbon with the help of biotin
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Degradation of TG stored in adipocytes

48. What does cytokeratin stain for
Epithelial cells
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Nine
ATP

49. What is the result of vit B5 def
Dermatitis - enteritis - alopecia - adrenal insuff
OTC has hyperammonemia - orotic aciduira does not
Read from a fixed starting point as a continuous sequence of bases
Mucus secreting globlet cells and antibody secreting plasma cells

50. What are the symptoms of vit A def
Lacks glucose 6 phophatase
Base + ribose
Night blindness - dry skin
Achondroplasia

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Biochemistry

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