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Biochemistry

Instructions:

Answer 50 questions in 15 minutes.
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Match each statement with the correct term.
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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. characterize x linked dominant
Lysine and arginine
Neurofibromatosis type 1 (von Recklinghausens disease)
Tryptophan
Transmitted through both parents - affected mother may have affected children - affected father will have affected children

2. trinucleotide repeat for huntingtons
Fibrofatty replacement of muscle - cardiac myopathy
CAG
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
SAM

3. What is proteasomal degredation
Attachment of ubiquitin to defective proteins tag them for breakdown
Zero
RNA poly II
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase

4. 90% of ADPKD cases are due to a mutation In what gene
APKD1 on chromosome 16
B-100 - CII and E
HDL
Alpha 1 -4 glucosidase

5. Where is glucose 6 phosphatase found and What does it do
LDL
In ER - glucose 6- P to glucose
CAG
African Americans and Asians

6. characterize mitochondrial inheritance
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Transmitted only through mother - all offspring of affected females may show signs of disease
Mebendazole/thiabendazole
Oxidative and nonoxidative - no ATP produced or used

7. benign asymptomatic condition with elevated levels of fructose in urine and blood - dz and enzyme
Achondroplasia
Same AA - often base change in 3rd position of codon (tRNA wobble)
FISH
Essential fructosuria - fructokinase AR

8. What does apoA 1 do
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Cre - lox system
Activates LCAT
Debranching enzyme

9. How many ATP are produced by anearobic glycolysis per molecule of glucose
MRNA
Antibiotic use or excessive ingestion of raw eggs
CG- 3 > AT-2 - More CG content - melting point goes up
Two

10. What happens to glycogen in the liver
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Breaks down acyl - coa to acetyl coa groups in mito
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels

11. What does a northern blot use as its sample
HMG- CoA synthase
RNA
Lysine and arginine
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis

12. I g fat = ? Kcal
Nine
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)

13. What is the amino acid precursor for porphyrin and heme
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
By inhibiting formation of the initiation complex and cause misreading of mRNA
Particular sequence of DNA where replicatino begins - may be single of multiple
Glycine

14. What inhibits pyruvate kinase
Liver - ovaries - seminal vesicles
Degredation of TG circulating in chylomicrons and VLDLs
ATP and alanine
Disease

15. What substance in egg whites binds biotin
Avidin
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Glycogen phosphorylase
Degradation of TG stored in adipocytes

16. What does degenerate/rundant genetic code refer to...
Wernicke - korsakoff - dry and wet beriberi
More than 1 codon may code for the same amino acid
Collagen
Binds to LDL receptor - mediates VLDL secretion

17. What does osteogenesis imperfecta causes and why
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
CAG - 4
Brittle bone disease - most commonly lead AD with abnl type I collagen causing multiple fractures with minimal trauma - blue sclerae due to translucency of connective tissue over the choroid - hearing loss - dental imperfections due to lack of dentin

18. What are pyrimidines made from
Makes RNA primer on which DNA poly III can initiate replication
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Arg - lys - his - arg is most basic - has has no charge at body pH
Orotate precursor - with PRPP added later

19. Which antifungal drugs work on microtubules
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Griseofulvin
Kidney - ears - eyes
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1

20. What does Alports syndrome cause and why
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Intermediate filaments
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive

21. This is the site where negative regulators bind
Avidin
Silencers
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Night blindness - dry skin

22. What are the purely ketogenic amino acids
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Specific glycosylases - AP endonuclease
Leu - lys
Q -

23. What does hepatic TG lipase do
Degradation of TG remaining in IDL
Exercise: inc NAD/NADH - inc ADP - inc Ca
HMG- CoA synthase
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR

24. Which enzyme involved in RNA synthesis does not require a template
Glucose - 2Pi - 2ADP - 2NAD+
Poly A polymerase - signal is AAUAA
32 - malate aspartate shuttle
Wobble

25. How is vit D stored
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Change resulting in early stop codon
25OHD3
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1

26. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
Wobble
FMR1 gene - methylation - associated with chromosomal breakage
Alpha - ketoglutarate dehydrogenase complex
Mediates chylomicron secretion

27. The pyruvate dehydrogenase complex serves In what reaction: products
Liver hepatocytes and steroid producing cells of the adrenal cortex
Acetly- CoA - CO2 - NADH
Glycine
Breaks down acyl - coa to acetyl coa groups in mito

28. What is Gowers maneuver
Assistance of upper extremities to stand up
Initiate chains
Procollagen - triple helix of 3 alpha collagen chains
Glycine

29. What is heteroplasmy
Two
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Biotin
Exons

30. What enzyme def can cause emphysema
Lysine and leucine
Arg and his inc in histones Which bind negatively charged DNA
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Alpha1 antitrypsin

31. What are the mRNA stop codons
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
NADPH
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
UGA - UAA and UAG

32. cytoskeletal elements associated with cilia - flagella - mitotic spindle - neurones and centrioles
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Brittle bone disease - most commonly lead AD with abnl type I collagen causing multiple fractures with minimal trauma - blue sclerae due to translucency of connective tissue over the choroid - hearing loss - dental imperfections due to lack of dentin
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Microtubules

33. What is the activated carrier for aldehyddes
2pq
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
CFTR gene - 7 - Phe 508
TTP

34. How do glucagon/epi lead to glycogenolysis
Inhibits RNA polymerase II - found in death cap mushrooms
No - its non homologous
N to C
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

35. What enzyme converts phenylalanine to tyrosin
Ile - phe - thr - trp
Same as sprint + OXPHOS
Phenylalanine hydroxylase
Tuberous sclerosis

36. What two enzymes are involved in EtOH metabolism
BOne
Inc vit B6
EtOH dehydrogenase and acetaldehyde dehydrogenase
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

37. What does the TCA cycle produce per 1 acetyl CoA
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Catabolic processes to carry reducing equivalents away as NADH
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Wobble

38. hepatosplenomegaly - aseptic necrosis of femur - bone crisis - MACS that look like crumpled tissue paper

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39. Synthesis of vit B3 requires what other vitamin
25OHD3
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
B6
Phosphofructokinase 1

40. What amino acid makes up most of the octamer
Lysine and arginine
Marfans
Alpha - ketoglutarate dehydrogenase complex
Adds an inorganic phosphate onto substrate without using ATP

41. The golgi apparatus fxns as a distribution center between what organelles in the cell and What does it process
Attachment of ubiquitin to defective proteins tag them for breakdown
Rotenone - CN- - antimycin A - CO
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
CGG

42. What converts tyrosine to DOPA
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Tryosine hydroxylase
Antioxidant - protects RBCs and membrances from free radical damage
Assistance of upper extremities to stand up

43. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.
Inc vit B6
Cleft palate - cardiac abnl - pregs test

44. What shape does the RNA generate during splicing and why?
Uses ATP to add high energy phophate group onto substrate
Glucose -6 phosphate
Rotenone - CN- - antimycin A - CO
Lariat shape in order and remove intron precisely and join 2 exons

45. What is the breakdown product of dopamine
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
HVA
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Sucrose = glucose + fructose - lactose = glucose + galactose

46. What is the amino acid precursor for GABA and glutathione
Mcardle's - skeletal muscle glycogen posphorylase
MRNA - tRNA
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Glutamate

47. How does abetalipoproteinemia present and What is the defect
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Silencers
Oral uridine administration
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

48. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
CG- 3 > AT-2 - More CG content - melting point goes up
Modifies N- oligosaccharides
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Hereditary spherocytosis

49. In addition to fructose and galactose - what sugards should be excluded from the diets of patients with disorders of fructose or galactose metabolism
Sucrose = glucose + fructose - lactose = glucose + galactose
Oxidative and nonoxidative - no ATP produced or used
Autosomal recessive diseases
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)

50. What shuttle is involved in fatty acid synthesis and What does it move From where to where
Wernicke - korsakoff - dry and wet beriberi
Citrate - acetyl coa from mito to cyto
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization