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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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1. What regulates whether FBPase -2 or PFK-2 is active
Protein kinase A
APC on chromosome 5
NAD+
Base + ribose

2. The golgi apparatus fxns as a distribution center between what organelles in the cell and What does it process
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Alkaptonuria - may have debiliating arthralgias
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

3. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
9+2 arrangement of microtubules
Ribos first then deoxyribos with ribonucleotide reductase
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

4. What substance accumulates in galactokinase def and What is the clinical picture
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
B-100 - CII and E
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Peroxide

5. In eukaryotes - What does RNA poly III make
THFs
TRNA
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
Targets the proteins for lysosome

6. nucleotide repeat for fredreich's ataxia
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
GAA
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Histidine

7. Type I collagen
G6PD
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Paclitaxel
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

8. What does a mischarge tRNA do
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Reads usual codon but inserts wrong AA

9. In the chromatin structure - which histones form the octamer - and which ties the nucleosome beads together in a string?
Met - val - arg his
SnRNPs and other proteins
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Histidine

10. Type III collagen
Kidney - ears - eyes
Vit K antagonist
MRNA - tRNA
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue

11. 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
Phenylethamolamine N methyl transferase
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
CAG

12. What does the TCA cycle produce per 1 acetyl CoA
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
DsRNA promotes degradation of target mRNA knocking down gene expression
Inc CPK and muscle biopsy

13. What is the mutation in beckers muscular dystrophy - What is the severity and time of onset
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Glutamine PRPP amidotransferase
Mutated dystrophin gene - less severe - adolescence
Lactate

14. What are the blood glucose levels maintained by for days 1-3
Glycogen phosphorylase
RNA poly II
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)
Myeloperoxidase

15. elevated LDL due to defective or absent LDL receptor - heterozygotes have cholesterol ~300 - homozygotes ~700
Prevent strands from reannealing
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
Familial hypercholesterolemia - hyperlipidemia type IIA
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production

16. Milder form of type I with nl blood lactate levels - dz and enzyme

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17. What happens in a B12 def
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Von gierkes - glucose 6 phosphatase
Neurofibromatosis type 1 (von Recklinghausens disease)
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

18. What step of uric acid synthesis does xanthine oxidase catalyze
Glycine
32 - malate aspartate shuttle
Hypoxanthine to xanthing and xanthine to uric acid
Muscle

19. How do cardia glycosides work
Citrate - acetyl coa from mito to cyto
Facial flushing
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
No - its non homologous

20. How does insulin inhibit glycogenolysis
4 under the floor
Degradation of TG remaining in IDL
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels

21. What is the complication of cystinuria
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Carbomoyl phosphate synthetase II

22. delivers hepatic TGs to peripheral tissue - secreted by liver
Dermatitis - glossitis - and diarrhea
VLDL
Glucose 6 phosphatase
TRNA

23. What rxn does propionyl - CoA carboxylase catalyze
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
75 to 90 - cloverleaf
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
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels

24. in a 100 meter sprint Where does energy come from
Dermatitis - glossitis - and diarrhea
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
CG- 3 > AT-2 - More CG content - melting point goes up
Stored ATP - creatine phosphate - anaerobic glycolysis

25. What is NADPH's role inside RBCs
Assistance of upper extremities to stand up
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Keep glutathione reduced so it can detoxify free radicals and peroxides
Two

26. What is the function of Zinc
4 under the floor
Modifies N- oligosaccharides
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia

27. What is imprinting and give an example

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28. What does inc phenylalanine lead to...
Neimann - pick - sphingomyelinase - sphingomyelin - AR
II - VII - IX - X (1972) protein C and S
Phenylketones in urine
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex

29. What happens at the smooth ER
Exercise: inc NAD/NADH - inc ADP - inc Ca
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Site of steroid synthesis and detoxification of drugs and poisons
Dermatitis - enteritis - alopecia - adrenal insuff

30. Describe the location and fxn of the Na/K ATPase
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
30 - 50 - 70
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side

31. Eukaryotic and prokaryotic DNA synthesis is blank and involves both blank and blank strands
Active secretion in lungs and GI - reabsorbs in skin
ADPKD
Semiconservative - continuous and discontinuous strands (okazaki fragments)
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects

32. What are Heinz bodies
Oxidized hemoglobin precipiated within RBCs
2 rings
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase

33. What feedback inhibits hexokinase
HMG- CoA (HMG- CoA to mevalonate
Glucose -6 phosphate
Defect in fibrillin
Q -

34. Which are the basic amino acids
MEN - 2A and 2B with ret gene
Arg - lys - his - arg is most basic - has has no charge at body pH
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
Deamination

35. What substance inside the cells replenishes NADPH
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
G6PD
Malapsorption syndromes like sprue or CF or mineral oil intake
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting

36. What are the irreversible enzymes of gluconeogenesis
Karyotyping
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
SnRNPs and other proteins
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia

37. What do B- complex vitamin deficiencies often result in
P2 +2pq+ = 1
5' to 3'
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Dermatitis - glossitis - and diarrhea

38. progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly
Ribose 5- P to PRPP
Attachment of ubiquitin to defective proteins tag them for breakdown
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity

39. What does the start codon code for in eukaryotes and prokaryotes
Liver hepatocytes and steroid producing cells of the adrenal cortex
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Eu - methionine - pro - formyl - methionine
Phenytoin - MTX - and sulfonamides

40. What happens in elongation of protein synthesis

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41. What is the result of vit B5 def
Targets the proteins for lysosome
Disorder of aromatic amino acid metabolism
Dermatitis - enteritis - alopecia - adrenal insuff
Marasmus - muscle wasting

42. What is maternal PKU
DTMP
Inc dicarboxylic acids - dec in glucose and ketones
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver

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

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44. What creates the musty body odor in PKU
Inc insulin - dec cAMP - dec PKA
NADH - NADPH - FADH2
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Disorder of aromatic amino acid metabolism

45. What causes B12 def
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
9+2 arrangement of microtubules
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

46. What are pyrimidines made from
Orotate precursor - with PRPP added later
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Tuberous sclerosis
Actin and myosin

47. What are the purely ketogenic amino acids
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
4 under the floor
B100
Leu - lys

48. What are the fat soluble vitamins and What does their absorption depend on...
Poly A polymerase - signal is AAUAA
Nonsense > missense > silent
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Miscarriage - stillbirth - chromosomal imbalance (down - patau)

49. What is the activated carrier for electrons
NADH - NADPH - FADH2
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light

50. What does vit B3 def result in
Glycolysis and aerobic respiration
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Pseudomonas and s aureus
Glycogen phosphorylase