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Biochemistry
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Subjects
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health-sciences
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science
Instructions:
Answer 50 questions in 15 minutes.
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Match each statement with the correct term.
Don't refresh. All questions and answers are randomly picked and ordered every time you load a test.
This is a study tool. The 3 wrong answers for each question are randomly chosen from answers to other questions. So, you might find at times the answers obvious, but you will see it re-enforces your understanding as you take the test each time.
1. What does the golgi add to serine and threonine residues
O- oligosaccharaides
Medial dorsal nucleus of thalamus - mamillary bodies
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Glycogen synthase
2. What does universal genetic code refer to and What are some exception
Lysine and arginine
Rb and p53
Attachment of ubiquitin to defective proteins tag them for breakdown
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
3. What apolipoprotiens are on VLDL
Glucose - 2Pi - 2ADP - 2NAD+
HVA
B-100 - CII and E
OTC has hyperammonemia - orotic aciduira does not
4. What is the RDE of gluconeogenesis
Fructose 1 -6 bisphosphate
ATP
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Cofactor for LPL
5. What are the 2 distinct phases of the HMP shunt and How many ATP are used and produced
Ile - phe - thr - trp
Infection - free radicals generated by inflammatory response
Oxidative and nonoxidative - no ATP produced or used
Change resulting in early stop codon
6. What is the source of energy in the fasting state between meals
Von hippel lindau - 3
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
7. What causes Down syndrome
Hypoxanthine to xanthing and xanthine to uric acid
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Glucose 6 phosphate dehydrogenase (G6PD)
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
8. What are the results of CF on male fertility
Males are infertile due to bilateral absence of vas deferens
40 - 60 - 80
Flank pain - hematuria - HTN - progressive renal failure
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
9. facial lesions - hypopigmented 'ash leaf spots -' cortical and retinal hamartomas - seizures - mental retardation - renal cysts - renal angiomyolipomas - cardiac rhabdomyomas - inc risk of astrocytomas
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Tuberous sclerosis
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death
10. What enzyme becomes essential in PKU
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Tyrosine
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
Malabsorption and steatorrhea (ADEK)
11. Type I collagen
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
In ER - glucose 6- P to glucose
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
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
12. What collagen type is most frequently affected in ehlers danlos and What are common complications
APKD1 on chromosome 16
III - joint dislocation - anuerysms - organ rupture
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
X linked frame shif mutation
13. What is loss of heterozygosity and give an example
Accelearted muscle breakdown
Microtubules
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
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
14. recurrent pulmonary infxns in CF are due to what organisms
Binds 50S - blocking translocation
Essential fructosuria - fructokinase AR
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Pseudomonas and s aureus
15. What do DNA topoisomerases do
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
2 -4 DNP - aspirin
Creat a nick in the helix to relieave supercoils created during replication
Alpha - ketoglutarate dehydrogenase complex
16. What are purines made from
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
IMP precursor
Glycine
17. What happens in vit B2 def
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Mitochondria
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death
18. What are cyclins
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Pseudomonas and s aureus
Phenylalanine
19. Broadly - What can cause fat - soluble vitamin deficiencies
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Malapsorption syndromes like sprue or CF or mineral oil intake
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
20. What is the activated carrier for Co2
Deamination
ATP and alanine
Biotin
Inc vit B6
21. How do macrolides and clindamycin work
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
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
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Binds 50S - blocking translocation
22. What sugar is sorbitol converted to and via what enzyme - and What can happen in cells lacking this enzyme
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
LDL
23. What is the RDE of glycogenolysis
Glycogen phosphorylase
Night blindness - dry skin
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Peroxide
24. How does OTC def present
Phenylalanine hydroxylase
Purines= A - G pyrimidine = C - T (U)
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
PFK - rate limiting enzyme
25. Where is glucokinase found - What are the Km and Vmax - and what induces it
Microarrays
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
RRNA
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
26. What does beta oxidation do and Where does it occur
Type II
More than 1 codon may code for the same amino acid
Dec DNA - dec lymphos leads to SCID
Breaks down acyl - coa to acetyl coa groups in mito
27. What is the function of biotin
Mediates chylomicron secretion
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
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
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
28. What substance accumulates in galactokinase def and What is the clinical picture
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Tyrosine
Glucose 6 phosphate dehydrogenase (G6PD)
Grows slowly - collapses quickly
29. Which anti gout drugs work on microtubules
X linked frame shif mutation
Phenylalanine
Carbomoyl phosphate synthetase I
Colchicine
30. What are the 4 assumption of the Hardy Weinberg law
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Peroxide
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
31. The pyruvate dehydorgenase complex serves In what reaction: reactants
Muscle
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Pyruvate - NAD+ - CoA
Purines= A - G pyrimidine = C - T (U)
32. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Post to neg
Marasmus - muscle wasting
Change resulting in early stop codon
33. What are Heinz bodies
Oxidized hemoglobin precipiated within RBCs
LDL
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
HMP shunt
34. What is a frame shift
NADH - NADPH - FADH2
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Hypoxanthine to xanthing and xanthine to uric acid
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
35. antbiotic controlled promoter to induciblly manipulate genes at specific developmental points
Cre - lox system
Vincritsine/vinblastine
X linked frame shif mutation
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
36. pyruvate carboxylase catalyzes what rxn
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Pyruvate to oxaloacetate (3C to 4C)
MRNA - tRNA
Cre - lox system
37. In which single strand DNA repair mechanism do specific endonucleases release the oligonucTIDE containing bases and DNA poly and ligase fill and reseal - and what disease occures when this is mutated
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
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
Initiate chains
38. What polar group does guanine have - and what non polar group does thymine have
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
CG- 3 > AT-2 - More CG content - melting point goes up
Ketone - methyl
HVA
39. What shape does the RNA generate during splicing and why?
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
Degredation of dietary TG in small intestine
Lariat shape in order and remove intron precisely and join 2 exons
MEN - 2A and 2B with ret gene
40. What is NADPH's role inside RBCs
2 rings
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Keep glutathione reduced so it can detoxify free radicals and peroxides
FISH
41. What are the irreversible enzymes of gluconeogenesis
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Diphyllobothrium latum
Cyclin dependent kinases;constitutive and inactive
42. What is the defect in I- hyperchylomicronemia
O- oligosaccharaides
Failure to track objects or develop a social smile
Makes RNA primer on which DNA poly III can initiate replication
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
43. What does a phosphatase do
Removes phosphate group from substrate
Antibiotic use or excessive ingestion of raw eggs
Glycine - aspartate - glutamine
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
44. What does the golgi apparatus do on asparagine
Modifies N- oligosaccharides
Coenzyme A - lipoamide
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
NF2 on chromosome 22
45. How does patients present with ADPKD
Tropoelastin with fibrillin scafolding
Flank pain - hematuria - HTN - progressive renal failure
PMNs
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
46. What is the activated carrier for 1 carbon units
CGG
THFs
Uses ATP to add high energy phophate group onto substrate
Protein kinase A
47. characterize autosomal recessive inheritance
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Unwinds DNA template at replcation fork
Leu - lys
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
48. What is the active form of vit D
1 -25 OH2 D3 = calcitriol
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Comlex II
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
49. What are the two possible causes of albinism
HGPRT - defective purine salvage - excess uric acid production
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
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
Initiate chains
50. How many rings do pyrimidines have
Neuralgia
1 ring
2 rings
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Sorry!:) No result found.
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