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Biochemistry

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1. What does the vimentin stain for
Connective tissue
Deamination
Microtubules
Acetoacetate and beta hydroxybutyrate

2. 90% of ADPKD cases are due to a mutation In what gene
APKD1 on chromosome 16
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Glycine
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15

3. What does SAM do
The triphosphate bond
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Transfers methyl units
Euchromatin

4. What apolipoprotein is on LDL
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Malabsorption and steatorrhea (ADEK)
Inhibits RNA polymerase II - found in death cap mushrooms
B100

5. How do odd chain fatty acids participate in gluconeogenesis
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Fasting
Glucose -6 phosphate
GAA

6. What does beta oxidation do and Where does it occur
Breaks down acyl - coa to acetyl coa groups in mito
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Euchromatin
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

7. Delivers dietary TGs to peripheral tissues - delivers cholesterol to liver in the form of remnants - mostly depleted of TGs - secreted by intestinal epith cells
Scrutinizes - hydrolyzes the bond
Chylomicrons
Oxidative and nonoxidative - no ATP produced or used
Carnitine shuttle - acyl - coa from cyto to mito

8. Type IV collagen is an important structural componenet of the BM for which 3 organs
Kidney - ears - eyes
Phenylethamolamine N methyl transferase
Met - val - arg his
Infection - free radicals generated by inflammatory response

9. What is the Name and fxn of vit B12
Actin and myosin
Biotin
CFTR gene - 7 - Phe 508
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

10. How does OTC def present
Protein kinase A
Degredation of dietary TG in small intestine
RER
Evident in first few days of life - can present last onest - excess carbamoyl phosphate converted to orotic acid - orotic acid in blood and urine - dec BUN and symptoms of hyerpammonemia

11. What does amino acid catabolsim results in the formation of what?
Removal of N or C termal propeptides from zymogens to generate mature proteins
Acetyl - CoA
Heterochromatin = HighlyCondensed
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted

12. Where is vit B12 found
Abnormal protein folding - degradation before reaching cell surface
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Ketone - methyl
Hereditary spherocytosis

13. What is maternal PKU
DTMP
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
APC on chromosome 5
Fibroblast

14. What does DNA poly I do?
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
O- oligosaccharaides
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
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

15. What shuttle is involved in fatty acid synthesis and What does it move From where to where
Cartilage - hyaline - vitreous body - nucleus pulposus
CAG - 4
Citrate - acetyl coa from mito to cyto
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses

16. What happens in hyperammonemia
Histidine
P2 +2pq+ = 1
Two
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision

17. What enzyme turns ROS to H2O2
Removes phosphate group from substrate
Superoxide dismutase
Alpha and beta tubulin - dimers have two GTP bound
Makes RNA primer on which DNA poly III can initiate replication

18. How is vit D stored
Covalent cross - linking by lysyl oxidase to make collagen fibrils
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
NF2 on chromosome 22
25OHD3

19. facial lesions - hypopigmented 'ash leaf spots -' cortical and retinal hamartomas - seizures - mental retardation - renal cysts - renal angiomyolipomas - cardiac rhabdomyomas - inc risk of astrocytomas
Ribose 5- P to PRPP
Cytosol - F 1 -6 BP to fructose 6 Phosphate
5' to 3'
Tuberous sclerosis

20. Which step in the de novo purine and pyrimidine synthesis pathway requires aspartate - glycine - glutamine and THF
Carbomoyl phosphate synthetase II
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Dec DNA - dec lymphos leads to SCID
Ribose 5- P to PRPP

21. I g fat = ? Kcal
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Neg to pos
Nine
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

22. What is the RDE of TCA cycle
Isocitrate dehydrogenase
ATP
Muscle
Adds 2 carbon with the help of biotin

23. What does desmin stain for
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Muscle
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Neither of 2 alleles is dominant - blood groups

24. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
RER
Skin
B100 and E
II - VII - IX - X (1972) protein C and S

25. Which end of the tRNA is the amino acid bound to...

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26. What happens in vit B2 def
Changed AA (convservative - new AA is similar in chemical structure)
Breaks down acyl - coa to acetyl coa groups in mito
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Cre - lox system

27. What polar group does guanine have - and what non polar group does thymine have
II - VII - IX - X (1972) protein C and S
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Ketone - methyl
Marfans

28. What are the results of pancreatic insuff in CF
30 - glycerol -3- phosphate shuttle
RNA poly II
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Malabsorption and steatorrhea (ADEK)

29. What happens in a B12 def
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Achondroplasia
Vit K antagonist
B6

30. What ribosomes do prokaryotes have
30 - 50 - 70
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Muscle
Kidney - ears - eyes

31. What does the golgi add to serine and threonine residues
Dermatitis - enteritis - alopecia - adrenal insuff
Met - val - arg his
O- oligosaccharaides
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia

32. What feedback inhibits hexokinase
Mediates extra remnant take up
Vincritsine/vinblastine
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Glucose -6 phosphate

33. What residues are hydroxylated in step 2 of collagen synthesis - and What does this require
17 - 17 letters in von Recklinghausen
Catabolic processes to carry reducing equivalents away as NADH
HGPRT - defective purine salvage - excess uric acid production
Proline and lysine - vit C

34. What is the function of biotin
32 - malate aspartate shuttle
Mcardle's - skeletal muscle glycogen posphorylase
TTP
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase

35. characterize mitochondrial inheritance
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Liver and leafy veggies
APC on chromosome 5
Transmitted only through mother - all offspring of affected females may show signs of disease

36. What defects characterize DiGeorge syndrome
Scrutinizes - hydrolyzes the bond
One
Thymic - parathyroid and cardiac
Defect in fibrillin

37. What are the purely ketogenic amino acids
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Leu - lys
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Unmethylated - newly synthesized - HNPCC

38. What is NAD+ generally used for
Catabolic processes to carry reducing equivalents away as NADH
Familial hypercholesterolemia - hyperlipidemia type IIA
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Degredation of dietary TG in small intestine

39. What is the defect in I- hyperchylomicronemia
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
X linked frame shif mutation
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
ATP hyrdolysis couple to energetically unfavorable rxns

40. What is regeneration of methionine depedent on...
B12 and folate
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Neither of 2 alleles is dominant - blood groups
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns

41. What is the target of the 3' hydroxyl attack
O- oligosaccharaides
Von Gierke's - Pompe - Cori - McArdle
The triphosphate bond
Type II

42. Eukaryotic and prokaryotic DNA synthesis is blank and involves both blank and blank strands
Prevent strands from reannealing
Sucrose = glucose + fructose - lactose = glucose + galactose
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Cre - lox system

43. cytoskeletal elements associated with cilia - flagella - mitotic spindle - neurones and centrioles
Microtubules
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Binds 50S - blocking translocation
Ketone - methyl

44. What substance inside the cell reduces glutatione
Y shaped region along the DNA template where leading nad lagging strands are synthesized
ATP
NADPH
Alanine

45. 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
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
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
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
LCAT (lecithin cholesterol acyltransferase)

46. Broadly - What can cause fat - soluble vitamin deficiencies
Malapsorption syndromes like sprue or CF or mineral oil intake
Vit K antagonist
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Covalent cross - linking by lysyl oxidase to make collagen fibrils

47. What tissue samples are used for karyotyping
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Flank pain - hematuria - HTN - progressive renal failure
Alpha and beta tubulin - dimers have two GTP bound
Blood - bone marrown - amniotic fluid - placental tissue

48. What are the physical findings of fragile x syndrome
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
30 - glycerol -3- phosphate shuttle
Neither of 2 alleles is dominant - blood groups
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse

49. In addition to fructose and galactose - what sugards should be excluded from the diets of patients with disorders of fructose or galactose metabolism
Glycine - aspartate - glutamine
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
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Sucrose = glucose + fructose - lactose = glucose + galactose

50. If two alleles are present - but the active allele is deleted - what happens
Binds 50S - blocking translocation
ATP
Disease
Inc Cl - in sweat

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Biochemistry

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