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Biochemistry

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Answer 50 questions in 15 minutes.
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1. What is maternal PKU
F16BP
Acetyl - CoA to malonyl - CoA (2C to 3C)
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Alcohol version of glucose - can trap glucose in cell - aldose reductase

2. In what cells do the respiratory burst occur
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Hypoxanthine to xanthing and xanthine to uric acid
PMNs

3. Which anti breast cancer drugs work on micortubules
Anabolic processes as a supply of reducing equivalents
Terminal regions - tropocollagen
Thymic - parathyroid and cardiac
Paclitaxel

4. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
Wrinkles and acne
FAP
Metanephrine
Cre - lox system

5. What happens in carnitine def
Night blindness - dry skin
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
P+q = 1
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS

6. What order kinetics does EtOH dehydrogenase have
Tuberous sclerosis
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Vit K antagonist
Zero

7. In eukaryotes - What does RNA poly II make
Specific glycosylases - AP endonuclease
Hypoglycemia
MRNA
Post to neg

8. Describe the pathophys of the aorta in a pt with marfans - and the eyes
CarTWOlage
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Blood - bone marrown - amniotic fluid - placental tissue
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns

9. What does the golgi do to sugars in proteoglycans and of selected tyrosine on proteins
Alkaptonuria - may have debiliating arthralgias
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
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
Sulfation

10. What are cyclins
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Protective against malaria
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Orotic acid to UMP

11. 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
DTMP
CFTR gene - 7 - Phe 508
Wobble
NADH - NADPH - FADH2

12. Which step in the de novo purine and pyrimidine synthesis pathway requires aspartate - glycine - glutamine and THF
Ribose 5- P to PRPP
Initiate chains
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
African Americans and Asians

13. Type II collagen
Cartilage - hyaline - vitreous body - nucleus pulposus
Type II
Ile - phe - thr - trp
Pyroxidine - converted to pyroxidine phosphate a cofactor used in transamination - decarboxylation - glycogen phosphorylase - cystathionine synthesis and heme synthesis - required for synthesis of niacin and tryptophan

14. What does a dehydrogenase do
Superoxide dismutase
Dermatitis - enteritis - alopecia - adrenal insuff
Specific glycosylases - AP endonuclease
Oxidizes substrate

15. recurrent pulmonary infxns in CF are due to what organisms
Glycolysis and aerobic respiration
Basement membrane or basal lamina
Fibrofatty replacement of muscle - cardiac myopathy
Pseudomonas and s aureus

16. What is the defect in cystinuria
Bind 30s subunit preventing attachment of aminoacyl - tRNA
CAG
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA

17. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
SNP
Diphyllobothrium latum
Arg and his inc in histones Which bind negatively charged DNA
Ribos first then deoxyribos with ribonucleotide reductase

18. What is the physiologic role of dystrophin
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
CTG
HMP shunt
Anchor muscle fibers - primarily in skeletal and cardiac muscle

19. What produces NADPH
B100
AR
SNP
HMP shunt

20. bilateral acoustic schwannomas - juvenile cataracts
GAA
HMP shunt
NF2 on chromosome 22
Y shaped region along the DNA template where leading nad lagging strands are synthesized

21. What feedback inhibits hexokinase
Niacin - constituent of NAD and NADP - derived from tryptophan
Active secretion in lungs and GI - reabsorbs in skin
Glucose -6 phosphate
Removal of N or C termal propeptides from zymogens to generate mature proteins

22. Where are cytosolic and organellar proteins made
1 kind with multiple subunits
Same as sprint + OXPHOS
Read from a fixed starting point as a continuous sequence of bases
Free ribosomes

23. What is the treatment for cystathionine synthase def
Facial flushing
Dec methionine - inc cystiene - inc B12/folate
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Phenylketones in urine

24. deletion of VHL gene on chromosome 3 leading to hemangioblastomas of retina/cerebellum/medulla bilateral RCC - dz and overexpression product
Von hippel lindau - 3
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Phenylethamolamine N methyl transferase

25. What are the findings in Down's syndrome
Eu - methionine - pro - formyl - methionine
Promotor - TATA box - and CAAT box - AT rich
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
Foliage - small reserve in liver - eat green leaves

26. What enzyme converts adenine to AMP
Inhibits RNA polymerase II - found in death cap mushrooms
Glucose 6 phosphatase
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
APRT + PRPP

27. What does helicase do
Unwinds DNA template at replcation fork
Not all individuals with a mutant genotype show the mutant phenotype
Marasmus - muscle wasting
No - its non homologous

28. What does DNA ligase do
Biotin
Unwinds DNA template at replcation fork
Wrinkles and acne
Seals.

29. What 3 syndromes are associated with vit B1 def
Wernicke - korsakoff - dry and wet beriberi
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Targets the proteins for lysosome
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side

30. Leysh - Nyhan syndrome is a defect in which enzyme and What are the biochemical results
HGPRT - defective purine salvage - excess uric acid production
Ca/calmodulin in muscle to coordinate with muscle activity
Inc vit B6
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor

31. What are CDKs
Cri du chat
Targets the proteins for lysosome
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Cyclin dependent kinases;constitutive and inactive

32. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
Four
SAM
Euchromatin
Malapsorption syndromes like sprue or CF or mineral oil intake

33. What does apoE do
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
Mediates extra remnant take up
Same AA - often base change in 3rd position of codon (tRNA wobble)
Unmethylated - newly synthesized - HNPCC

34. What substances induce phosphofructokinase
F16BP
Thymic - parathyroid and cardiac
AMP - fructose 2 -6 BP
Antibiotic use or excessive ingestion of raw eggs

35. What does a decrease in decrease in NADPH lead to and why
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Alanine
LDL

36. An inability to convert orotic acid to UMP would be caused by a deficiency either of which two enzymes

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37. What converts DOPA to dopamine
Silencers
Dec DNA - dec lymphos leads to SCID
Dopa decarboxylase
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

38. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Liver hepatocytes and steroid producing cells of the adrenal cortex
PFK - rate limiting enzyme
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Proton gradient

39. inc glycogen in muscle but can't break it down - painful muscle cramps - myglobinuria with strenuous exercise - dz and enzyme

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40. What does biotin def cause
Liver - ovaries - seminal vesicles
APC on chromosome 5
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Dermatitis - alopecia - enteritis

41. What bone disorder has x linked dominant inheritance
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Tryosine hydroxylase
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

42. What substances are uncouling agents
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE
Carbomoyl phosphate synthetase I
Transmitted only through mother - all offspring of affected females may show signs of disease
2 -4 DNP - aspirin

43. How does ethanol induce hypoglycemia
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Unwinds DNA template at replcation fork
CAG
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

44. What is the activated carrier for 1 carbon units
THFs
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Alpha - ketoglutarate dehydrogenase complex
30 - glycerol -3- phosphate shuttle

45. bilateral - massive enlargement of of kidneys due to multiple large cysts
Binds 50S - blocking translocation
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
ADPKD
Stop codon is recognized by release factor - and completed protein is released from ribosome

46. What are ketone bodies made from - where are they metabolized and how are they excreted
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Adenosine to inosine
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)

47. What happens in vit B2 def
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
IMP precursor
X- linked recessive
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

48. What are the priorities for the body in fasting and starvation
Acetyl - CoA to malonyl - CoA (2C to 3C)
Locus heterogeneity - ocular albinism is x- linked recessive
Supply sufficient glucose to brain and RBCs and to preserve protein
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond

49. What inhibits pyruvate kinase
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Tryosine hydroxylase
ATP and alanine
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination

50. What is the function of folic acid
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Antioxidant - facilitates iron absorption by keeping iron in the Fe2+ reduced state - necessary for hydroxylation of proline and lysine collagen bridges - necessary for dopamine beta hydroxylase which converts DA to NE
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate

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Biochemistry

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