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Biochemistry

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Answer 50 questions in 15 minutes.
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1. delivers hepatic TGs to peripheral tissue - secreted by liver
Bind 30s subunit preventing attachment of aminoacyl - tRNA
PCR - denaturation - annealing - elongation
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
VLDL

2. What are bite cells and when do you see them
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Phosphorylation - glycosylation - hydroxylation
Result from phagocytic removal of heinz bodies my macs - G6PD def
Alpha - ketoglutarate dehydrogenase complex

3. What enzyme converts phenylalanine to tyrosin
Breaks down acyl - coa to acetyl coa groups in mito
Leu - lys
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Phenylalanine hydroxylase

4. What ribosomes do eukaryotes have
1/4 of offspring from 2 carrier parents are affected - often enzyme def - usually only seen in 1 generation - often more sever than AD - presents in childhood
40 - 60 - 80
Protein
Colchicine

5. Severe fasting hypoglycemia - inc glycogen storage in liver - inc blood lactate - hepatomegaly - dz and def enzyme
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Von gierkes - glucose 6 phosphatase
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Oral uridine administration

6. trinucleotide repeat for huntingtons
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
Makes RNA primer on which DNA poly III can initiate replication
Nissl body - enzyme and NTs
CAG

7. What are the results of unbalanced translocation
Ribose 5- P to PRPP
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Von Gierke's - Pompe - Cori - McArdle
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response

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

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9. Name as many x- linked recessive disorders as you can

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10. What is the RDE of fatty acid synthesis
Metanephrine
Malapsorption syndromes like sprue or CF or mineral oil intake
Unmethylated - newly synthesized - HNPCC
Acetyl - CoA carboxylase (ACC)

11. congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosine to fumarate leading to dark connective tissue - brown pigmented sclera - urine turns black on standing - dz and worst complication
Arg and his inc in histones Which bind negatively charged DNA
Alkaptonuria - may have debiliating arthralgias
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis

12. What is the prevalence of an X- linked recessive disease in males and in females
Q -
MEN - 2A and 2B with ret gene
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Liver - ovaries - seminal vesicles

13. What are the names and sources of the two types of vit D found in nature
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Must be both activated and inactivated for cell cycle to progress
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
Inc dicarboxylic acids - dec in glucose and ketones

14. What are the findings in orotic aciduria
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Grows slowly - collapses quickly
G6PD

15. Where is acetaldehyde located
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
Kwashiorkor - small child with swollen belly
Mitochondria
30 - 50 - 70

16. What enzymes metabolize fatty acids and amino acids
EtOH dehydrogenase and acetaldehyde dehydrogenase
Degredation of dietary TG in small intestine
Acetoacetate and beta hydroxybutyrate
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase

17. progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Lacks glucose 6 phophatase
Liver hepatocytes and steroid producing cells of the adrenal cortex

18. What is pleiotropy and given an example
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Glucose - 2Pi - 2ADP - 2NAD+

19. What is Retin A used topically for
Wrinkles and acne
Chylomicrons
17 - 17 letters in von Recklinghausen
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

20. What does vit B3 def result in
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Dermatitis - enteritis - alopecia - adrenal insuff

21. What does the golgi assemble proteoglycans from
Same as sprint + OXPHOS
THFs
1 -25 OH2 D3 = calcitriol
Core proteins

22. What substance inside the cells replenishes NADPH
Antioxidant - protects RBCs and membrances from free radical damage
Glycogenolysis to form glucose
G6PD
Mebendazole/thiabendazole

23. What is the result of vit B5 def
Dermatitis - enteritis - alopecia - adrenal insuff
Mutated dystrophin gene - less severe - adolescence
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
Exons

24. What is anticipation and give an example
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
B100
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia

25. What 3 steps in RNA processing occur after transcription

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26. How many rings do purines have
Stop codon is recognized by release factor - and completed protein is released from ribosome
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
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
2 rings

27. Describe the pathophys of the aorta in a pt with marfans - and the eyes
30 - 50 - 70
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
MEN - 2A and 2B with ret gene
Locus heterogeneity - ocular albinism is x- linked recessive

28. Of the four possible fates for pyruvate - which ends anaerobic glycolysis as in RBCs - leukocytes - kidney medulla - lens - testes and cornea
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria
Lactate
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Tuberous sclerosis

29. What is the amino acid precursor for porphyrin and heme
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
Glycine
Rb and p53
Inc intestinal absorption fo calcium and phosphate - inc bone resorption

30. What inhibits the carnitine shuttle
Malonyl coa
AMP - fructose 2 -6 BP
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
Oligomycin

31. What causes Edwards syndrome and What is it
Trisomy 18 - severe mental retardation - rocker bottom feet - micrognathia - low set ears - clenched hands - prominent occiput - congenital heart disease - death usually within the first year
Polycystic liver disease - berry aneurysm - mitral valve prolapse
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Antioxidant - protects RBCs and membrances from free radical damage

32. Which carbon bears the triphosphate and the energy source for bond formation

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33. What lab technique is use to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments
Microarrays
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Change resulting in early stop codon
1 -25 OH2 D3 = calcitriol

34. Which phase of the HMP shunt is reversible and Which is irreversible
Scrutinizes - hydrolyzes the bond
Oxidative is irreversible
SAM
Biotin

35. Which kind of osteogenesis imperfecta is fata in utero or in neonatal period
Phenylethamolamine N methyl transferase
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Glycogenolysis to form glucose
Type II

36. What is the hardy weinberg allele prevalence
Tryosine hydroxylase
IDL
Type II
P+q = 1

37. What lab value can distinguish orotic aciduria from ornithine transcarbamoylase def?
OTC has hyperammonemia - orotic aciduira does not
Silencers
Fibroblast
Removal of N or C termal propeptides from zymogens to generate mature proteins

38. What does the addition of mannose -6 phosphate do
Targets the proteins for lysosome
Flank pain - hematuria - HTN - progressive renal failure
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
F16BP

39. What are ketone bodies made from - where are they metabolized and how are they excreted
Epithelial cells
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Site of steroid synthesis and detoxification of drugs and poisons
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine

40. What are Heinz bodies
Oxidized hemoglobin precipiated within RBCs
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
GAA
Bind 30s subunit preventing attachment of aminoacyl - tRNA

41. What does lipoprotein lipase do
Orotic acid to UMP
Each codon specifies only 1 amino acid
Degredation of TG circulating in chylomicrons and VLDLs
Initiate chains

42. in a 100 meter sprint Where does energy come from
Fibrofatty replacement of muscle - cardiac myopathy
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
MRNA - tRNA
Stored ATP - creatine phosphate - anaerobic glycolysis

43. What does universal genetic code refer to and What are some exception
Asp and Glu
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Phenylalanine hydroxylase
Lariat shape in order and remove intron precisely and join 2 exons

44. How many nucTIDEs is a tRNA and What does the secondary sturcture form
75 to 90 - cloverleaf
Williams syndrome
Heterochromatin = HighlyCondensed
Phenylethamolamine N methyl transferase

45. What are the glucogenic/ketogenic amino acids
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
ATP hyrdolysis couple to energetically unfavorable rxns
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Ile - phe - thr - trp

46. Describe the structure of cilia
Carbomoyl phosphate synthetase I
Locus heterogeneity - ocular albinism is x- linked recessive
9+2 arrangement of microtubules
B48 - AIV - CII - E

47. What causes biotin def
Peroxide
Antibiotic use or excessive ingestion of raw eggs
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Superoxide dismutase

48. energy malnutrition resulting in tissues and muscle wasting - loss of subQ fat - variable edema
Marasmus - muscle wasting
Griseofulvin
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Antibiotic use or excessive ingestion of raw eggs

49. What activates the pyruvate dehydrogenase complex
Males are infertile due to bilateral absence of vas deferens
APRT + PRPP
Glycogenolysis to form glucose
Exercise: inc NAD/NADH - inc ADP - inc Ca

50. peripheral neuropathy - developmental delay - optic atrophy - glopoid cells
LDL
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Lysine and arginine
Krabbes - galactocerebrosidase - galactocerebroside - AR

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Biochemistry

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