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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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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 makes up a nucleotide

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2. What is the defect in cystinuria
Orotate precursor - with PRPP added later
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
IDL
2 -4 DNP - aspirin

3. Eukaryotic and prokaryotic DNA synthesis is blank and involves both blank and blank strands
Williams syndrome
Semiconservative - continuous and discontinuous strands (okazaki fragments)
AR
Acetly- CoA - CO2 - NADH

4. What 3 steps in RNA processing occur after transcription

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5. What does vit B3 def result in
Glycogen synthase
Epithelial cells
Cri du chat
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia

6. What are the results of CF on male fertility
75 to 90 - cloverleaf
Abnormal protein folding - degradation before reaching cell surface
Active secretion in lungs and GI - reabsorbs in skin
Males are infertile due to bilateral absence of vas deferens

7. What does vit C def cause
Antioxidant - protects RBCs and membrances from free radical damage
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Rotenone - CN- - antimycin A - CO
Essential fructosuria - fructokinase AR

8. What is dominant negative mutation and give an example
Alcohol version of glucose - can trap glucose in cell - aldose reductase
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
Assistance of upper extremities to stand up
Liver hepatocytes and steroid producing cells of the adrenal cortex

9. What do def in in enzymes of gluconeogenesis cause
II - VII - IX - X (1972) protein C and S
Hypoglycemia
APKD1 on chromosome 16
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

10. What are the purely ketogenic amino acids
Leu - lys
CFTR gene - 7 - Phe 508
Superoxide dismutase
Neurons

11. What is the amino acid precuros for niacin and serotonin/melatonin
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Tryptophan
Neg to pos
Connective tissue

12. Infection with what organism can cause B12 def
40 - 60 - 80
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
Diphyllobothrium latum
Neuralgia

13. bilateral - massive enlargement of of kidneys due to multiple large cysts
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
L form
Alkaptonuria - may have debiliating arthralgias
ADPKD

14. What are the irreversible enzymes of gluconeogenesis
Williams syndrome
X linked frame shif mutation
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Result from phagocytic removal of heinz bodies my macs - G6PD def

15. What is the fxn of vit K
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
PCR - denaturation - annealing - elongation
Lysine and arginine
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora

16. What is the activated carrier for phosphoryl
No - its non homologous
Binds 50S - blocking translocation
Histidine
ATP

17. What is maternal PKU
Metanephrine
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra

18. What does hepatic TG lipase do
Degradation of TG remaining in IDL
Specific glycosylases - AP endonuclease
2pq
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.

19. What is the pathway in the fed state leading to dec FBPase -2 and inc PFK-2
Cartilage - hyaline - vitreous body - nucleus pulposus
Marfans
Connective tissue
Inc insulin - dec cAMP - dec PKA

20. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
X linked frame shif mutation
Phenylethamolamine N methyl transferase
Chylomicrons

21. What are the blood glucose levels maintained by for days 1-3
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)
Phenytoin - MTX - and sulfonamides
Colchicine
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes

22. What is the RDE of the urea cycle
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Binds 50S - blocking translocation
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
Carbomoyl phosphate synthetase I

23. metaphse chromosomes are stained - ordered and numbered according to morphology - size - arm length ratio - banding pattern
PFK - rate limiting enzyme
Karyotyping
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Hypoxanthine to xanthing and xanthine to uric acid

24. What ribosomes do eukaryotes have
HMP shunt
Four
Tryosine hydroxylase
40 - 60 - 80

25. What activates the pyruvate dehydrogenase complex
Exercise: inc NAD/NADH - inc ADP - inc Ca
Targets the proteins for lysosome
Eu - methionine - pro - formyl - methionine
Coenzyme A - lipoamide

26. In what direction are DNA and RNA synthesized

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27. Broadly - What can cause fat - soluble vitamin deficiencies
Failure to track objects or develop a social smile
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Malapsorption syndromes like sprue or CF or mineral oil intake

28. What does the mutation in the gene cause in protein synthesis
Abnormal protein folding - degradation before reaching cell surface
Fibrofatty replacement of muscle - cardiac myopathy
Covalent cross - linking by lysyl oxidase to make collagen fibrils
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

29. congenital microdeletion of short arm of chromosome 5 with microcephaly - moderate to severe mental retardation - high pitched crying/meying - epicanthal folds - cardiac abnl
Hypoxanthine to xanthing and xanthine to uric acid
Cri du chat
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Uses ATP to add high energy phophate group onto substrate

30. How do stable (quiescent) cells grow and regenerate and What are examples
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Binds to LDL receptor - mediates VLDL secretion
Wrinkles and acne

31. What co - factors are required for the pyruvated dehydrogenase complex
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
SnRNPs and other proteins
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Citrate - acetyl coa from mito to cyto

32. What defects characterize velocardiofacial syndrome
Prevent strands from reannealing
Muscle
Palate - facial and cardiac defects
Activates LCAT

33. In which structures do you find microtubules
Removal of N or C termal propeptides from zymogens to generate mature proteins
Neural tube
Flagella - cilia - mitotic spindles
Adenosine to inosine

34. What does the vimentin stain for
Marasmus - muscle wasting
Connective tissue
Familial hypercholesterolemia - hyperlipidemia type IIA
Bind 30s subunit preventing attachment of aminoacyl - tRNA

35. What is trimming
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Dopa decarboxylase
Removal of N or C termal propeptides from zymogens to generate mature proteins

36. What is the RDE of gluconeogenesis
Fructose 1 -6 bisphosphate
APKD1 on chromosome 16
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Cleft palate - cardiac abnl - pregs test

37. What are the glucogenic essential amino acids
ATP and alanine
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Met - val - arg his
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

38. What chromosome is the NF gene on...
Carnitine acyltransferase I
DsRNA promotes degradation of target mRNA knocking down gene expression
17 - 17 letters in von Recklinghausen
Promotor - TATA box - and CAAT box - AT rich

39. What is the RDE of cholesterol synthesis
HMG- CoA reductase
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Makes RNA primer on which DNA poly III can initiate replication
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

40. peripheral neuropathy of hands/feet - angiokeratomas - CV/renal disease - dz - def enzyme - acc substrate - inherit
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Alkaptonuria - may have debiliating arthralgias
After citruline
Flank pain - hematuria - HTN - progressive renal failure

41. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
Proton gradient
Modifies N- oligosaccharides
Alpha - ketoglutarate dehydrogenase complex
Sulfation

42. What substance inside the cells replenishes NADPH
Mediates extra remnant take up
Enhancers
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
G6PD

43. What are purines made from
IMP precursor
Covalent cross - linking by lysyl oxidase to make collagen fibrils
Site of steroid synthesis and detoxification of drugs and poisons
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA

44. What is the treatment for orotic aciduria
Oral uridine administration
Rb and p53
Two
Tryptophan

45. The pyruvate dehydrogenase complex serves In what reaction: products
ATP and alanine
25OHD3
Marasmus - muscle wasting
Acetly- CoA - CO2 - NADH

46. What initiates protein synthesis
Flagella - cilia - mitotic spindles
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
X- linked recessive
25OHD3

47. What converts DOPA to dopamine
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
More than 1 codon may code for the same amino acid
Dopa decarboxylase
Q -

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

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49. bilateral acoustic schwannomas - juvenile cataracts
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Krabbes - galactocerebrosidase - galactocerebroside - AR
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
NF2 on chromosome 22

50. What substance in egg whites binds biotin
Dermatitis - alopecia - enteritis
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Avidin
Collagen