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Biochemistry

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1. What are uncoupling agents
Malonyl coa
ATP and methionine
Tryptophan
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

2. Why is albinism inheritnace varialbe due to...
The triphosphate bond
Locus heterogeneity - ocular albinism is x- linked recessive
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR

3. What does hepatic TG lipase do
Glycogen and FFA oxidation; glucose conserved for final sprinting
DsRNA promotes degradation of target mRNA knocking down gene expression
Degradation of TG remaining in IDL
Nonsense > missense > silent

4. Very Poor Carbohydrate Metabolism stands for 4 of the glycogen storage diseases - What are thy

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5. What residues are hydroxylated in step 2 of collagen synthesis - and What does this require
Oxidized hemoglobin precipiated within RBCs
Proline and lysine - vit C
Williams syndrome
Malonyl coa

6. Accurate base pairing is required only in the first two nucleotide positions of an mRNA codon - so conds differeing in the 3rd position may code for the same tRNA/AA due to degenerate genetic code
Wobble
Lariat shape in order and remove intron precisely and join 2 exons
Proline and glycine (non glycosylated forms)
Fabrys - alpha galactosidase A - ceramide trihexoside - XR

7. What does apoE do
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Wrinkles and acne
Mediates extra remnant take up

8. What do albinism - ARPKD - CF - glycogen storage diseases - hemochromatosis - mucopolysaccharidoses (except Hunters) PKU - sickle cell - sphingolipodoses (except Fabrys) thalassemias have in common
Hereditary spherocytosis
SnRNPs and other proteins
Autosomal recessive diseases
Inhibit DNA gyrase specific for prokaryotic topoisomerase

9. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Schwann cells - lens - retina - kidneys
Dec DNA - dec lymphos leads to SCID
Lactate

10. What enzyme converts adenine to AMP
Polyneuritis - symmetrical muscle wasting
AR
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
APRT + PRPP

11. What is a silent mutation
Cytosol
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Adds an inorganic phosphate onto substrate without using ATP
Same AA - often base change in 3rd position of codon (tRNA wobble)

12. How do cardia glycosides work
Tropoelastin with fibrillin scafolding
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Ketone - methyl
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility

13. What does a pyruvate dehydrogenase deficiency lead to and What are the findings
G6PD
CFTR gene - 7 - Phe 508
Stored ATP - creatine phosphate - anaerobic glycolysis
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects

14. What is the active form of vit D
1 -25 OH2 D3 = calcitriol
Flank pain - hematuria - HTN - progressive renal failure
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Terminal regions - tropocollagen

15. What are the functinos of vitamin A
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
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 permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat
Chronic granulomatous disease - no respiatory burst - no formatino of ROS

16. What is the hardy weinberg allele prevalence
Orotate precursor - with PRPP added later
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
P+q = 1
Ile - phe - thr - trp

17. How is vit D stored
Neg to pos
Myeloperoxidase
25OHD3
Disorder of aromatic amino acid metabolism

18. How does warfarin work
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
IDL
Vit K antagonist
Each codon specifies only 1 amino acid

19. What does the golgi do to sugars in proteoglycans and of selected tyrosine on proteins
Sulfation
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Von hippel lindau - 3
LCAT (lecithin cholesterol acyltransferase)

20. Where do you find elastin and What does it do
Glycogen phosphorylase
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Targets the proteins for lysosome
By inhibiting formation of the initiation complex and cause misreading of mRNA

21. What is the fxn of vit D
Base + ribose + phosphate (3' -5') phosphodiester bond
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
III - joint dislocation - anuerysms - organ rupture

22. What is the RER called in neurons and What is made there
Each codon specifies only 1 amino acid
Liver - also in kidney and gut epithelium
African Americans and Asians
Nissl body - enzyme and NTs

23. What metabolic rxns occur in both the cytoplasm and mitochondria
Inc melt - dec fluidity
Orotic acid to UMP
RER
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two

24. what gene is implicated in fragile X syndrome - and What is the mutation
Protective against malaria
LDL
FMR1 gene - methylation - associated with chromosomal breakage
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

25. For eukaryotes - Where does replication begin?
One
Consesus sequenec of base pairs
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Base + ribose

26. trinucleotide repeat for huntingtons
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
P2 +2pq+ = 1
Glutamine PRPP amidotransferase
CAG

27. What is the most common urea cycle disorder and What is the mode of inheritance?
Asp and Glu
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Marfans
Neither of 2 alleles is dominant - blood groups

28. What is DNA cloning and How do you do it?
Failure to track objects or develop a social smile
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Schilling test
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA

29. Inhibition of thymidilate synthase and and DHFR lead to decrease In what substance
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
DTMP
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Neg to pos

30. What does the golgi assemble proteoglycans from
Core proteins
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
High output cardiac failure - dilated cardiomyopathy - edema

31. What are possilbe presentation for galactokinase def
Failure to track objects or develop a social smile
Von Gierke's - Pompe - Cori - McArdle
SNP
Liver - also in kidney and gut epithelium

32. What reaction does adenosine deaminase normally catalyze
4 under the floor
Adenosine to inosine
Von gierkes - glucose 6 phosphatase
APRT + PRPP

33. What defects characterize DiGeorge syndrome
Thymic - parathyroid and cardiac
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
EtOH dehydrogenase and acetaldehyde dehydrogenase
Conversion of NE to epi

34. What enzyme does fructose metabolism bypass to reach glycolysis
PFK - rate limiting enzyme
RER
P+q = 1
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA

35. What is the limiting reagent in EtOH metabolism
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
Ca/calmodulin in muscle to coordinate with muscle activity
Degradation of TG remaining in IDL
NAD+

36. What is the RDE of the HMP shunt
Glucose 6 phosphate dehydrogenase (G6PD)
Malapsorption syndromes like sprue or CF or mineral oil intake
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
ATP and alanine

37. Where is fructose 1 -6 bisphosphatase found and What does it do
Four
SnRNPs and other proteins
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22

38. Which cells are rich in smooth ER
Neurons
NAD+
Liver hepatocytes and steroid producing cells of the adrenal cortex
L form

39. What 3 syndromes are associated with vit B1 def
Wernicke - korsakoff - dry and wet beriberi
Tryptophan
RRNA
Cytosol - F 1 -6 BP to fructose 6 Phosphate

40. Why can't even chain fatty acids produce new glucose
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
ADPKD
They yield only acetyl - CoA equivalents

41. What are cyclin - CDK complexes
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Must be both activated and inactivated for cell cycle to progress
B-100 - CII and E
B48 - AIV - CII - E

42. What is the result of vit B5 def
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Oligomycin
Dermatitis - enteritis - alopecia - adrenal insuff
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O

43. What sugar is sorbitol converted to and via what enzyme - and What can happen in cells lacking this enzyme
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Elastase - inhibited by alpha1 antitrypsin
Prevent strands from reannealing

44. cytoskeletal elements associated with vimenentin - desmin - cytokeratin - glial fibrillary acid protiens (GFAP) - neurofilaments
Intermediate filaments
Hypoglycemia
Fed
Core proteins

45. What is the Name and fxn of vit B12
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
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
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Phenylalanine hydroxylase

46. What substance accumulates in galactokinase def and What is the clinical picture
5' of the incoming nucleotide
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Cytosol
Not all individuals with a mutant genotype show the mutant phenotype

47. developmental delay - gargoylism - airway obstruction - corneal clouding - hepatosplenomegaly
Scrutinizes - hydrolyzes the bond
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
PMNs
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR

48. Which phase of the HMP shunt is reversible and Which is irreversible
Oxidative is irreversible
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
5' to 3'
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1

49. 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
II - VII - IX - X (1972) protein C and S
Scrutinizes - hydrolyzes the bond
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

50. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
PCR - denaturation - annealing - elongation
FMR1 gene - methylation - associated with chromosomal breakage
Neurons
Inc vit B6

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Biochemistry

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