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Biochemistry

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1. Do balanced translocations cause abnl phenotype
No
Alpha 1 -6 and alpha 1 -4
Oral uridine administration
Phenylketones in urine

2. What do def in in enzymes of gluconeogenesis cause
Anabolic processes as a supply of reducing equivalents
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Hypoglycemia

3. How many rings do pyrimidines have
Defect in fibrillin
Ketone - methyl
Palate - facial and cardiac defects
1 ring

4. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Proton gradient
Proline and lysine - vit C
Glutamine PRPP amidotransferase
Paclitaxel

5. What does Adenosine deaminase deficiency cause a build up of - and What does that lead to?
Inc dicarboxylic acids - dec in glucose and ketones
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Catabolic processes to carry reducing equivalents away as NADH
Hereditary spherocytosis

6. What is the initial transcript called and What is the capped and tailed transcript called
African Americans and Asians
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Palate - facial and cardiac defects
Inhibits 50S peptidyltransferase

7. How doe NADH electrons from glycolysis and the TCA cycle enter the mitochondiria
Purines= A - G pyrimidine = C - T (U)
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood

8. What makes up a nucleoside
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
Acetoacetate and beta hydroxybutyrate
Base + ribose
Neither of 2 alleles is dominant - blood groups

9. What does the mutation in the gene cause in protein synthesis
RNA
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Abnormal protein folding - degradation before reaching cell surface
Acetyl - CoA

10. What is the treatment for orotic aciduria
1 ring
Glycogen and FFA oxidation; glucose conserved for final sprinting
Oral uridine administration
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

11. What substances inhibit phosphofructokinase -1
30 - 50 - 70
ATP - citrate
RRNA
9+2 arrangement of microtubules

12. Which cells are rich in smooth ER
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
Liver hepatocytes and steroid producing cells of the adrenal cortex
LCAT (lecithin cholesterol acyltransferase)

13. What kind of RNA is transported out of the nucleus
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Only processed RNA
Ribos first then deoxyribos with ribonucleotide reductase
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia

14. Where is acetaldehyde located
Karyotyping
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Superoxide dismutase
Mitochondria

15. What tissue samples are used for karyotyping
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Blood - bone marrown - amniotic fluid - placental tissue
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Uses ATP to add high energy phophate group onto substrate

16. Which antihelminthe drugs work on microtubules
Base + ribose + phosphate (3' -5') phosphodiester bond
Mebendazole/thiabendazole
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase

17. Which direction does dynein go
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Locus heterogeneity - ocular albinism is x- linked recessive
Autosomal recessive diseases
Post to neg

18. Describe the pathophys of the aorta in a pt with marfans - and the eyes
Consesus sequenec of base pairs
Disease
Read from a fixed starting point as a continuous sequence of bases
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses

19. Name 5 drugs that interfere with nucleotide synthesis
Euchromatin
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
ATP
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

20. How does ouabain work
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Inhibits the Na/K pump by binding the K side
DTMP
Accelearted muscle breakdown

21. What collagen type is most frequently affected in ehlers danlos and What are common complications
Supply sufficient glucose to brain and RBCs and to preserve protein
Paclitaxel
III - joint dislocation - anuerysms - organ rupture
Sucrose = glucose + fructose - lactose = glucose + galactose

22. Infection with what organism can cause B12 def
Orotate precursor - with PRPP added later
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Diphyllobothrium latum
O- oligosaccharaides

23. What is the fxn of vit K
N to C
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration
Pyruvate to oxaloacetate (3C to 4C)

24. What substance in egg whites binds biotin
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Blood - bone marrown - amniotic fluid - placental tissue
Kidney - ears - eyes
Avidin

25. What does a pyruvate dehydrogenase deficiency lead to and What are the findings
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
G6PD
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects

26. What is loss of heterozygosity and give an example
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
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
Rb and p53
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints

27. antbiotic controlled promoter to induciblly manipulate genes at specific developmental points
Not all individuals with a mutant genotype show the mutant phenotype
Cre - lox system
Males are infertile due to bilateral absence of vas deferens
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate

28. What defects characterize velocardiofacial syndrome
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
Palate - facial and cardiac defects
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects

29. Mild Hurlurs + aggressive behavior no corneal clouding
Acetyl - CoA to malonyl - CoA (2C to 3C)
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Glucose - 2Pi - 2ADP - 2NAD+
Degredation of dietary TG in small intestine

30. What other complex is similar to the pyruvate dehydrogenase complex in that it has the same co - factors and generates succinyl - CoA
Alpha - ketoglutarate dehydrogenase complex
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Supply sufficient glucose to brain and RBCs and to preserve protein
B-100 - CII and E

31. What lab procedure is used to amplify desired fragment of DNA and What are the 3 steps
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
PCR - denaturation - annealing - elongation
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Acetyl - CoA carboxylase (ACC)

32. What are the findings with homocystinuria and What amino acid is needs to be supplemented
Skin
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)

33. What is the RDE of TCA cycle
Acetyl - CoA
Zero
Isocitrate dehydrogenase
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21

34. What chromosome is the NF gene on...
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Degradation of TG stored in adipocytes
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
17 - 17 letters in von Recklinghausen

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

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36. What is the RDE of fatty acid oxidation
Carnitine acyltransferase I
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Acetyl - CoA carboxylase (ACC)
Oxidized hemoglobin precipiated within RBCs

37. What happens at the smooth ER
Dermatitis - alopecia - enteritis
Comlex II
Site of steroid synthesis and detoxification of drugs and poisons
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects

38. caf
Neurofibromatosis type 1 (von Recklinghausens disease)
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Makes RNA primer on which DNA poly III can initiate replication
Glycogen phosphorylase

39. What 3 steps in RNA processing occur after transcription

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40. In eukaryotes - What does RNA poly III make
Oxidative is irreversible
Meiotic nondisjunction of homologous chromosomes (associated with advanced maternal age) leading to trisomy 21
TRNA
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR

41. What ribosomes do eukaryotes have
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
40 - 60 - 80
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Polycystic liver disease - berry aneurysm - mitral valve prolapse

42. How is ATP used by the cell
ATP hyrdolysis couple to energetically unfavorable rxns
Phenylethamolamine N methyl transferase
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Tuberous sclerosis

43. In which direction is protein synthesized
Microarrays
Glucose 6 phosphate dehydrogenase (G6PD)
N to C
Night blindness - dry skin

44. cytoskeletal elements in micorvilli - muscle contracting fibers - cytokenesis - adherens jxns
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Actin and myosin
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
They yield only acetyl - CoA equivalents

45. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
X linked frame shif mutation
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Medial dorsal nucleus of thalamus - mamillary bodies
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

46. What metabolic rxns occur in the mitochondria
Catabolic processes to carry reducing equivalents away as NADH
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
RNA
Grows slowly - collapses quickly

47. progressive neurodegeneration - developmental delay - cherry red spot on macula - lysosomes with onion skin - NO hepatosplenomegaly
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Procollagen - triple helix of 3 alpha collagen chains
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine

48. Acetyl - CoA carboxylase catalyzes what rxn
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
G6PD
Acetyl - CoA to malonyl - CoA (2C to 3C)
Oxidative and nonoxidative - no ATP produced or used

49. What does apoE do
Free ribosomes
Tuberous sclerosis
Mediates extra remnant take up
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)

50. Accurate base pairing is required only in the first two nucleotide positions of an mRNA codon - so conds differeing in the 3rd position may code for the same tRNA/AA due to degenerate genetic code
Wobble
Myeloperoxidase
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism

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Biochemistry

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