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Biochemistry

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1. What is locus heterogeneity and give an example
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Must be both activated and inactivated for cell cycle to progress

2. What regulates whether FBPase -2 or PFK-2 is active
Nonsense > missense > silent
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Protein kinase A

3. What does DNA poly I do?
Schwann cells - lens - retina - kidneys
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
9+2 arrangement of microtubules
Glycine

4. What is the most abundant protein in the body
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
CFTR gene - 7 - Phe 508
Collagen
Proline and lysine - vit C

5. Of the four possible fates for pyruvate - which ends anaerobic glycolysis as in RBCs - leukocytes - kidney medulla - lens - testes and cornea
Lactate
Changed AA (convservative - new AA is similar in chemical structure)
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate

6. What co - factors are required for the pyruvated dehydrogenase complex
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Debranching enzyme
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
FMR1 gene - methylation - associated with chromosomal breakage

7. In what cell is collagen synthesis initiated
Inc vit B6
B100
Fibroblast
Same as sprint + OXPHOS

8. 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
Site of steroid synthesis and detoxification of drugs and poisons
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Two

9. What is the fxn of vit E
DTMP
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Wrinkles and acne
Antioxidant - protects RBCs and membrances from free radical damage

10. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
GAA
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Dec DNA - dec lymphos leads to SCID
Type II

11. What happens in folate def
Lactate
Phenytoin - MTX - and sulfonamides
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
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs

12. spheroid RBCs due to spectrin or ankyrin defect - hemolytic anemia - inc MHCH - splenectomy is curative
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Degredation of dietary TG in small intestine
Hereditary spherocytosis
Prevent strands from reannealing

13. Which amino acids are elastin rich in
Silencers
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
Proline and glycine (non glycosylated forms)
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies

14. what findings are associated with marfans
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Flank pain - hematuria - HTN - progressive renal failure
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage

15. What does hepatic TG lipase do
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Acetoacetate and beta hydroxybutyrate
SNP
Degradation of TG remaining in IDL

16. What is the energy source after day 3 of starvation
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Adipse tissue stores - keton bodies become the main source of energy fo the brain and heart - after these are depleted - vital protein degradation accelerates - leading to organ failure and death
2pq
ATP

17. What does osteogenesis imperfecta causes and why
Liver - also in kidney and gut epithelium
PCR - denaturation - annealing - elongation
Fibroblast
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 is the amino acid precuros for niacin and serotonin/melatonin
No
Tryptophan
GTP
P+q = 1

19. What does a defective Cl channel do
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Liver hepatocytes and steroid producing cells of the adrenal cortex
2 rings
Proline and glycine (non glycosylated forms)

20. How do aminoglycosides work
Vit K antagonist
Eu - methionine - pro - formyl - methionine
Mebendazole/thiabendazole
By inhibiting formation of the initiation complex and cause misreading of mRNA

21. telangiectasia - recrrent epistaxis - skin discolorations - AVMs
Wobble
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Fasting

22. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Mcardle's - skeletal muscle glycogen posphorylase
Proton gradient
O- oligosaccharaides
Methionine encode by only 1 codon (AUG)

23. What are the symptoms of vit A def
Activates LCAT
Night blindness - dry skin
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Lysine and arginine

24. What does the addition of mannose -6 phosphate do
Neurons
Targets the proteins for lysosome
2pq
Euchromatin

25. What are ketone bodies made from - where are they metabolized and how are they excreted
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
B-100 - CII and E
FAP

26. How is ammonium transported from muscle to the liver for urea cycle
Four
Proline and lysine - vit C
Keep glutathione reduced so it can detoxify free radicals and peroxides
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

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

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28. What is the breakdown product of NE
VMA
Tropoelastin with fibrillin scafolding
II - VII - IX - X (1972) protein C and S
CGG

29. What are the complications/signs of familial hypercholesterolemia
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates

30. What is linkage disequilibrium
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
One
X linked frame shif mutation
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

31. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
AR
Marasmus - muscle wasting
Dopamine beta hydroxylase
Base + ribose + phosphate (3' -5') phosphodiester bond

32. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
Anabolic processes as a supply of reducing equivalents
Disease
PCR - denaturation - annealing - elongation
Disorder of aromatic amino acid metabolism

33. What can excess vit B3 cause
Facial flushing
40 - 60 - 80
Exons
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step

34. What substances inhibit phosphofructokinase -1
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
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
ATP - citrate
Autosomal recessive diseases

35. 1 g of protein or cabrohydrate = ?kcal
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Four
L form
Achondroplasia

36. What does the deletion of the dystrophin gene lead to...
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
FAP
Accelearted muscle breakdown
Colchicine

37. What is the source of energy in the fasting state between meals
Attachment of ubiquitin to defective proteins tag them for breakdown
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Failure to track objects or develop a social smile
Inhibits lipoic acid - vomiting - rice water stools - garlic breath

38. In which structures do you find microtubules
Mucus secreting globlet cells and antibody secreting plasma cells
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Flagella - cilia - mitotic spindles
Eu - methionine - pro - formyl - methionine

39. The pyruvate dehydrogenase complex serves In what reaction: products
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Each codon specifies only 1 amino acid
BOne
Acetly- CoA - CO2 - NADH

40. What step of uric acid synthesis does xanthine oxidase catalyze
Infection - free radicals generated by inflammatory response
Same AA - often base change in 3rd position of codon (tRNA wobble)
Post to neg
Hypoxanthine to xanthing and xanthine to uric acid

41. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Mucus secreting globlet cells and antibody secreting plasma cells
No
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase

42. What is the activated carrier for Co2
Tropoelastin with fibrillin scafolding
Arg - lys - his - arg is most basic - has has no charge at body pH
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
Biotin

43. What 3 amino acids are necessary for purine synthesis
Liver hepatocytes and steroid producing cells of the adrenal cortex
Particular sequence of DNA where replicatino begins - may be single of multiple
Glycine - aspartate - glutamine
Activates LCAT

44. Describe the structure of cilia
9+2 arrangement of microtubules
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Eu - methionine - pro - formyl - methionine
Degredation of dietary TG in small intestine

45. What are the only purely ketogenic amino acids
Post to neg
Degredation of dietary TG in small intestine
Lysine and leucine
Acetoacetate and beta hydroxybutyrate

46. Where is acetaldehyde located
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Mitochondria
RNA

47. How do you diagnose CFTR
Inc melt - dec fluidity
By inhibiting formation of the initiation complex and cause misreading of mRNA
Tuberous sclerosis
Inc Cl - in sweat

48. How do odd chain fatty acids participate in gluconeogenesis
Fibrofatty replacement of muscle - cardiac myopathy
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Alpha 1 -4 glucosidase

49. What does vit C def cause
Sucrose = glucose + fructose - lactose = glucose + galactose
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Reads usual codon but inserts wrong AA

50. What enzyme catalyzes the rxn from pyrvuate to Acetyl - CoA and what inhibits it
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
In cytosol - oxaloacetate to phosphenolpyruvate - requires GTP
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA

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Biochemistry

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