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Test your basic knowledge |
Biochemistry
Start Test
Study First
Subjects
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health-sciences
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science
Instructions:
Answer 50 questions in 15 minutes.
If you are not ready to take this test, you can
study here
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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 a carboxylase do
Metanephrine
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Arg - lys - his - arg is most basic - has has no charge at body pH
Adds 2 carbon with the help of biotin
2. What is the TX for CF and What does it do
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
3. How does ouabain work
Specific glycosylases - AP endonuclease
Unwinds DNA template at replcation fork
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Inhibits the Na/K pump by binding the K side
4. What is the result of vit B5 def
Pseudomonas and s aureus
Dermatitis - enteritis - alopecia - adrenal insuff
Alpha 1 -4 glucosidase
30 - glycerol -3- phosphate shuttle
5. How does OTC def present
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
APRT + PRPP
Leu - lys
Breaks down acyl - coa to acetyl coa groups in mito
6. Formed and degradation of VLDL - delivers TGs and cholesterol to liver where they are degraded to LDL
IDL
HMG- CoA reductase
Alpha1 antitrypsin
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
7. What is NAD+ generally used for
NADPH
Catabolic processes to carry reducing equivalents away as NADH
B100 and E
Palate - facial and cardiac defects
8. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
Phenylketones in urine
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
HDL
Inc glucagon - inc cAMP - inc PKA
9. Which part of the DNA binds RNA polymerase and multiple other TFs upstream from gene locus
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Promotor - TATA box - and CAAT box - AT rich
CGG
Dec methionine - inc cystiene - inc B12/folate
10. What are uncoupling agents
Malapsorption syndromes like sprue or CF or mineral oil intake
Terminal regions - tropocollagen
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
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
11. Type II cartilage
Superoxide dismutase
CarTWOlage
Unmethylated - newly synthesized - HNPCC
Particular sequence of DNA where replicatino begins - may be single of multiple
12. What is the origin of replication
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Particular sequence of DNA where replicatino begins - may be single of multiple
Sucrose = glucose + fructose - lactose = glucose + galactose
O- oligosaccharaides
13. How do stable (quiescent) cells grow and regenerate and What are examples
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Passed to glutamate - then to alanine enters blood - enters liver - coverted to pyruvate and transfers ammonium back to glutamate which gives it to the urea cycle
14. What is used to diagnose muscular dystrophies
Inc CPK and muscle biopsy
Phosphorylation - glycosylation - hydroxylation
IDL
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
15. What does vit C def cause
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
MRNA
Liver - also in kidney and gut epithelium
FISH
16. What collagen type is most frequently affected in ehlers danlos and What are common complications
III - joint dislocation - anuerysms - organ rupture
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Neural tube
17 - 17 letters in von Recklinghausen
17. hepatosplenomegaly - aseptic necrosis of femur - bone crisis - MACS that look like crumpled tissue paper
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18. fibrillin defect leading to connective tissue disorder affecting skeleton - heart - and eyes
Wrinkles and acne
Wernicke - korsakoff - dry and wet beriberi
III - joint dislocation - anuerysms - organ rupture
Marfans
19. What is pleiotropy and given an example
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Uses ATP to add high energy phophate group onto substrate
Scrutinizes - hydrolyzes the bond
Lariat shape in order and remove intron precisely and join 2 exons
20. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
Dec DNA - dec lymphos leads to SCID
Degradation of TG remaining in IDL
Phenylketones in urine
Type II
21. characterize autosomal recessive inheritance
Four
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
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
Mebendazole/thiabendazole
22. What are the findings with homocystinuria and What amino acid is needs to be supplemented
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Malabsorption and steatorrhea (ADEK)
23. bilateral acoustic schwannomas - juvenile cataracts
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
NF2 on chromosome 22
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
24. What are the glucogenic essential amino acids
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
HMG- CoA synthase
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Met - val - arg his
25. What apolipoproteins are on chylomicrons
Kidney - ears - eyes
B48 - AIV - CII - E
Vincritsine/vinblastine
Skin
26. How do glucagon/epi lead to glycogenolysis
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Heterochromatin = HighlyCondensed
P+q = 1
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
27. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
Mitochondria
Polycystic liver disease - berry aneurysm - mitral valve prolapse
CG- 3 > AT-2 - More CG content - melting point goes up
HMG- CoA synthase
28. Where do you find elastin and What does it do
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
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)
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
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
29. In which structures do you find microtubules
P2 +2pq+ = 1
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Flagella - cilia - mitotic spindles
Glutamate
30. What is the hardy weinber heterozygote prevalence
Vit K antagonist
Oxalacetate
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
2pq
31. What are the water soluble vitamins - which ones are stored
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Ile - phe - thr - trp
F16BP
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
32. Infection with what organism can cause B12 def
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
3' end (with CCA)
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Diphyllobothrium latum
33. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Leu - lys
Proline and glycine (non glycosylated forms)
Marasmus - muscle wasting
34. What does apoA 1 do
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Seals.
Activates LCAT
NADH - NADPH - FADH2
35. How many rings do purines have
2 rings
25OHD3
Inc melt - dec fluidity
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
36. What are bite cells and when do you see them
Inc glucagon - inc cAMP - inc PKA
Result from phagocytic removal of heinz bodies my macs - G6PD def
Intermediate filaments
Uses ATP to add high energy phophate group onto substrate
37. What happens to glycogen in the liver
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
After day 1
38. What does commaless - nonoverlapping genetic code refer to...
Read from a fixed starting point as a continuous sequence of bases
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
X- linked recessive
Familial hypercholesterolemia - hyperlipidemia type IIA
39. What clotting factors require vit K
II - VII - IX - X (1972) protein C and S
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
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Alanine
40. What is the activated carrier for phosphoryl
ATP
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
Nissl body - enzyme and NTs
Proton gradient
41. peripheral neuropathy of hands/feet - angiokeratomas - CV/renal disease - dz - def enzyme - acc substrate - inherit
1 kind with multiple subunits
Biotin
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
42. What drugs can cause folate def
Phosphorylation - glycosylation - hydroxylation
Palate - facial and cardiac defects
Phenytoin - MTX - and sulfonamides
High output cardiac failure - dilated cardiomyopathy - edema
43. What is the purpose of the HMP shunt
2pq
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Nature and severity of phenotype vary from 1 individual to another - NF type 1
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
44. What is locus heterogeneity and give an example
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Each codon specifies only 1 amino acid
45. What are the symptoms of vit A excess
Poly A polymerase - signal is AAUAA
HMG- CoA (HMG- CoA to mevalonate
Myeloperoxidase
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
46. What enzymes metabolize fatty acids and amino acids
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Medial dorsal nucleus of thalamus - mamillary bodies
Acetoacetate and beta hydroxybutyrate
Cytosol - F 1 -6 BP to fructose 6 Phosphate
47. What is the Hardy Weinberg disease prevalence equation
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
P2 +2pq+ = 1
In ER - glucose 6- P to glucose
Proline and glycine (non glycosylated forms)
48. What enzyme degrades a small amount of glycogen in lysosomes
Acetyl - CoA carboxylase (ACC)
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Dec DNA - dec lymphos leads to SCID
Alpha 1 -4 glucosidase
49. What is the pathway in the fed state leading to dec FBPase -2 and inc PFK-2
30 - glycerol -3- phosphate shuttle
Defect in fibrillin
Inc insulin - dec cAMP - dec PKA
Essential fructosuria - fructokinase AR
50. What tissue samples are used for karyotyping
UDP glucose pyrophosphorylase
Rotenone - CN- - antimycin A - CO
Blood - bone marrown - amniotic fluid - placental tissue
Glycogenolysis to form glucose