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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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1. What lab value can distinguish orotic aciduria from ornithine transcarbamoylase def?
Glucose - 2Pi - 2ADP - 2NAD+
OTC has hyperammonemia - orotic aciduira does not
Transmitted only through mother - all offspring of affected females may show signs of disease
Each codon specifies only 1 amino acid

2. In which structures do you find microtubules
Flagella - cilia - mitotic spindles
Malapsorption syndromes like sprue or CF or mineral oil intake
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
VLDL

3. Where is acetaldehyde located
Failure to track objects or develop a social smile
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Mitochondria
Ketone - methyl

4. What are cyclin - CDK complexes
Infection - free radicals generated by inflammatory response
Paclitaxel
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Must be both activated and inactivated for cell cycle to progress

5. What is dominant negative mutation and give an example
IMP precursor
Hypoglycemia
LDL
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

6. What 3 amino acids are necessary for purine synthesis
Glycine - aspartate - glutamine
Cleft palate - cardiac abnl - pregs test
Phosphofructokinase 1
Protein

7. What step of uric acid synthesis does xanthine oxidase catalyze
Hypoxanthine to xanthing and xanthine to uric acid
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
Familial hypercholesterolemia - hyperlipidemia type IIA

8. What apolipoproteins are on IDL
Huntingtons
HMP shunt
Neimann - pick - sphingomyelinase - sphingomyelin - AR
B100 and E

9. Describe the replication fork
Glycogenolysis to form glucose
Glutamine PRPP amidotransferase
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Sucrose = glucose + fructose - lactose = glucose + galactose

10. Where is vit A found in the diet
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
G6PD
Liver and leafy veggies
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene

11. What converts limit dextran to glucose
Glucose -6 phosphate
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Lysine and leucine
Debranching enzyme

12. What enzyme adds Cl - to the H202 to makes bleach
Site of steroid synthesis and detoxification of drugs and poisons
4 under the floor
Myeloperoxidase
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood

13. What do DNA topoisomerases do
Creat a nick in the helix to relieave supercoils created during replication
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
P2 +2pq+ = 1
Procollagen - triple helix of 3 alpha collagen chains

14. What is the source of energy in the fasting state between meals
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Glutamine PRPP amidotransferase
OTC has hyperammonemia - orotic aciduira does not
75 to 90 - cloverleaf

15. What is the fxn of vit E
Hepatic glycogenolysis - adipose tissue release of FFA - muslce and liver FFA - hepatic gluconeogenesis from peripheral tissue lactate and alanine and from adipose tissue glycerol and proprionyl - coA (odd chain FFA)
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
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
Antioxidant - protects RBCs and membrances from free radical damage

16. What kind of branches do glycogen branches have
ATP hyrdolysis couple to energetically unfavorable rxns
Alpha 1 -6 and alpha 1 -4
B6
DsRNA promotes degradation of target mRNA knocking down gene expression

17. What does apoB48 do
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
RER
Mediates chylomicron secretion
Oxidative and nonoxidative - no ATP produced or used

18. What are the glucogenic essential amino acids
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Von Gierke's - Pompe - Cori - McArdle
Met - val - arg his
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase

19. In eukaryotes - What does RNA poly III make
TRNA
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
BOne
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

20. What are Heinz bodies
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Oxidized hemoglobin precipiated within RBCs
Inhibits the Na/K pump by binding the K side
4 under the floor

21. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Dec DNA - dec lymphos leads to SCID
AMP - fructose 2 -6 BP
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer

22. What substance inside the cell serves to oxidize glutatione
Peroxide
Vincritsine/vinblastine
40 - 60 - 80
B6

23. What does NADPH oxidase deficiency result in and why
Failure to track objects or develop a social smile
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Huntingtons

24. Why can't muscle produce in gluconeogenesis
Sons of heterozygous mothers have 1/2 half chance of being affected - no male to male transmission - and often more severe in males - heterozygous females may be affected
1 ring
Lacks glucose 6 phophatase
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

25. What causes Edwards syndrome and What is it
HDL
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Lysine and leucine

26. What does the ELISA test for
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Mediates chylomicron secretion
GAA
Antigen - antibody reactivity - can look for antigen or antibody in patients blood

27. What is RNAi used for
DsRNA promotes degradation of target mRNA knocking down gene expression
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Four
Colchicine

28. What are the characteristics of angelmans syndrome and How does it occur
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Scrutinizes - hydrolyzes the bond
Liver hepatocytes and steroid producing cells of the adrenal cortex

29. What happens to oxaloacetate in alcholism
1 -25 OH2 D3 = calcitriol
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Phenytoin - MTX - and sulfonamides
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production

30. What is the energy source for translocation
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
PMNs
GTP

31. What does DNA poly III do?

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

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33. What does Adenosine deaminase deficiency cause a build up of - and What does that lead to?
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
ATP

34. What is the target of the 3' hydroxyl attack
The triphosphate bond
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination

35. What is the Hardy Weinberg disease prevalence equation
P2 +2pq+ = 1
Mediates extra remnant take up
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Seals.

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

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37. What does apoA 1 do
NF2 on chromosome 22
Epithelial cells
Activates LCAT
Diphyllobothrium latum

38. Type III collagen
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Coenzyme A - lipoamide
Hyperlipidemia
Inhibits 50S peptidyltransferase

39. pyruvate carboxylase catalyzes what rxn
Foliage - small reserve in liver - eat green leaves
Pyruvate to oxaloacetate (3C to 4C)
Wernicke - korsakoff - dry and wet beriberi
Makes RNA primer on which DNA poly III can initiate replication

40. What is the rate determining enzyme (RDE) of glycolysis
Tuberous sclerosis
Unwinds DNA template at replcation fork
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Phosphofructokinase 1

41. What is the activated carrier for electrons
NADH - NADPH - FADH2
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Q -
Elastase - inhibited by alpha1 antitrypsin

42. What is the amino acid precursor for porphyrin and heme
Activates LCAT
RNA poly II
Cytosol
Glycine

43. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
30 - glycerol -3- phosphate shuttle
Dopa decarboxylase
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
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

44. What does the CFTR channel do in the lungs - GI tract and skin
Hypoglycemia
Active secretion in lungs and GI - reabsorbs in skin
Orotate precursor - with PRPP added later
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

45. How does cytosine become uracil
Alkaptonuria - may have debiliating arthralgias
Deamination
25OHD3
Pyruvate to oxaloacetate (3C to 4C)

46. What are the findings with homocystinuria and What amino acid is needs to be supplemented
Procollagen - triple helix of 3 alpha collagen chains
Fructose 1 -6 bisphosphate
NAD+
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine

47. What does the golgi apparatus do on asparagine
Arg - lys - his - arg is most basic - has has no charge at body pH
THFs
CGG
Modifies N- oligosaccharides

48. What is the defect in II A familial hypercholesterolemia
Inhibit DNA gyrase specific for prokaryotic topoisomerase
II - VII - IX - X (1972) protein C and S
Heterochromatin = HighlyCondensed
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

49. What does GFAP stain for
No - its non homologous
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Neuralgia
Debranching enzyme

50. cell signaling defect of fibroblast growth factor (FGF) receptor 3 - results in dwarfism - short limbs - head/trunk nl size - associated with advanced paternal age
Malapsorption syndromes like sprue or CF or mineral oil intake
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
EtOH dehydrogenase and acetaldehyde dehydrogenase
Achondroplasia