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Biochemistry

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1. How do cardia glycosides work
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation

2. How is vit D stored
25OHD3
CG- 3 > AT-2 - More CG content - melting point goes up
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Inc CPK and muscle biopsy

3. What happens on the nonoxidative arm of the HMP shunt and What is the key enzyme and cofactor
If pt inherits or develops a mutation in a tumor suppresor gene - the complementary allele must be deleted/mutated before cancer develops - not true of oncogenes - retinoblastoma
Williams syndrome
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Exons

4. What does fomepizole do
Neg to pos
Degradation of TG remaining in IDL
MEN - 2A and 2B with ret gene
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning

5. What is the energy source for tRNA actication (charging)
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
ATP
Oxidative and nonoxidative - no ATP produced or used
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR

6. Which kind of osteogenesis imperfecta is fata in utero or in neonatal period
Phenylalanine
32 - malate aspartate shuttle
2 -4 DNP - aspirin
Type II

7. Type II collagen
Cartilage - hyaline - vitreous body - nucleus pulposus
Change resulting in early stop codon
Glycolysis and aerobic respiration
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome

8. What does arsenic do and What are th results of poisoning
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Active secretion in lungs and GI - reabsorbs in skin

9. What is the breakdown product of epi
Metanephrine
Attachment of ubiquitin to defective proteins tag them for breakdown
Rb and p53
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels

10. What does lactase deficiency cause
Cytosol
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
CAG - 4

11. Which aspect of the spliceosome do patients with lupus make antibodies against
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
SnRNPs
They yield only acetyl - CoA equivalents
Accelearted muscle breakdown

12. characterize autosomal domint inheritance
Ketone - methyl
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Oxidizes substrate
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty

13. What is the target of the 3' hydroxyl attack
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
The triphosphate bond
PMNs
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

14. What happens in folate def
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Dopa decarboxylase
Thymic - parathyroid and cardiac
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

15. telangiectasia - recrrent epistaxis - skin discolorations - AVMs
Purines= A - G pyrimidine = C - T (U)
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
N to C
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)

16. bilateral - massive enlargement of of kidneys due to multiple large cysts
Poly A polymerase - signal is AAUAA
Glucose 6 phosphate dehydrogenase (G6PD)
ADPKD
No - its non homologous

17. What does apoB100 do
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Binds to LDL receptor - mediates VLDL secretion
Hypoxanthine to xanthing and xanthine to uric acid
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase

18. What liberates glucose from glucose 6 P
Malapsorption syndromes like sprue or CF or mineral oil intake
Glucose 6 phosphatase
Removal of N or C termal propeptides from zymogens to generate mature proteins
CTG

19. What does acetyl - CoA become before becoming palmitate
O- oligosaccharaides
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
ATP - citrate

20. What enzyme results in classic galactosemia and What is the clinical
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Acetoacetate and beta hydroxybutyrate
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Rotenone - CN- - antimycin A - CO

21. What drugs can cause folate def
Ribose 5- P to PRPP
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Procollagen - triple helix of 3 alpha collagen chains
Phenytoin - MTX - and sulfonamides

22. Which are the basic amino acids
Euchromatin
Arg - lys - his - arg is most basic - has has no charge at body pH
Nonsense > missense > silent
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss

23. protein malnutrition resulting in skin lesions - edema and liver malfxn
Essential fructosuria - fructokinase AR
HGPRT - defective purine salvage - excess uric acid production
Carnitine acyltransferase I
Kwashiorkor - small child with swollen belly

24. What is NADPH used for
Glutamine PRPP amidotransferase
Anabolic processes as a supply of reducing equivalents
ADPKD
Essential fructosuria - fructokinase AR

25. What is the prevalence of an X- linked recessive disease in males and in females
APRT + PRPP
Q -
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Proline and lysine - vit C

26. What is the most abundant type of RNA
NAD+
RRNA
APKD1 on chromosome 16
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis

27. 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
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
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
Hypoglycemia

28. central and peripheral demyelination with ataxia and dementia
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Two
Phenylketones in urine
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage

29. What substances inhibit phosphofructokinase -1
ATP - citrate
Stored ATP - creatine phosphate - anaerobic glycolysis
Fructose 1 -6 bisphosphate
Post to neg

30. What is Gowers maneuver
Assistance of upper extremities to stand up
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
NF2 on chromosome 22
Neurons

31. How many rings do pyrimidines have
Ketone - methyl
1 ring
Fibrofatty replacement of muscle - cardiac myopathy
Intermediate filaments

32. What is the fxn of vit E
Vit K antagonist
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
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Antioxidant - protects RBCs and membrances from free radical damage

33. What is the hardy weinber heterozygote prevalence
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
2pq
Achondroplasia
Reads usual codon but inserts wrong AA

34. What apolipoprotein is on LDL
Cartilage - hyaline - vitreous body - nucleus pulposus
Coenzyme A - lipoamide
B100
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US

35. What polar group does guanine have - and what non polar group does thymine have
Ketone - methyl
Skin
LCAT (lecithin cholesterol acyltransferase)
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra

36. What happens with wet beriberi
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Von hippel lindau - 3
Sons of heterozygous mothers have 1/2 half chance of being affected - no male to male transmission - and often more severe in males - heterozygous females may be affected
High output cardiac failure - dilated cardiomyopathy - edema

37. What is DNA cloning and How do you do it?
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Debranching enzyme
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1

38. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
MRNA
X linked frame shif mutation
Proton gradient
Abnormal protein folding - degradation before reaching cell surface

39. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
Inc CPK and muscle biopsy
CGG
30 - glycerol -3- phosphate shuttle
Rotenone - CN- - antimycin A - CO

40. Inhibition of thymidilate synthase and and DHFR lead to decrease In what substance
DTMP
NADH - NADPH - FADH2
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step

41. metaphse chromosomes are stained - ordered and numbered according to morphology - size - arm length ratio - banding pattern
Lysine and leucine
Karyotyping
Kwashiorkor - small child with swollen belly
Disease

42. What does a phosphorylase do
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
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Glycolysis and aerobic respiration
Adds an inorganic phosphate onto substrate without using ATP

43. What does a southern blot use as its sample
DNA
Alpha 1 -6 and alpha 1 -4
LCAT (lecithin cholesterol acyltransferase)
Unmethylated - newly synthesized - HNPCC

44. What happens in vit D excess
Microarrays
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
RNA

45. Describe the replication fork
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
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
NAD+

46. What is the hardy weinberg allele prevalence
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
P+q = 1
Protective against malaria
Protein

47. What are the glucogenic/ketogenic amino acids
Degredation of dietary TG in small intestine
Liver hepatocytes and steroid producing cells of the adrenal cortex
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Ile - phe - thr - trp

48. What amino acid makes up most of the octamer
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
MRNA - tRNA
Lysine and arginine
Polycystic liver disease - berry aneurysm - mitral valve prolapse

49. pyruvate carboxylase catalyzes what rxn
Phenylketones in urine
Pyruvate to oxaloacetate (3C to 4C)
Neurofibromatosis type 1 (von Recklinghausens disease)
RER

50. What causes maple syrup urine disease and What does it lead to...
Dec in alpha ketoacid dehydrogenas leading to blocked degredation of branches amino acids like Ile - Leu - and Val - severe CNS defects mental retardation and death
Sucrose = glucose + fructose - lactose = glucose + galactose
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Marfans

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Biochemistry

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