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Biochemistry

Instructions:

Answer 50 questions in 15 minutes.
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Match each statement with the correct term.
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This is a study tool. The 3 wrong answers for each question are randomly chosen from answers to other questions. So, you might find at times the answers obvious, but you will see it re-enforces your understanding as you take the test each time.

1. What happens in zinc def
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Metanephrine
Oligomycin

2. How many nucTIDEs is a tRNA and What does the secondary sturcture form
Glucose -6 phosphate
Malonyl coa
Ribos first then deoxyribos with ribonucleotide reductase
75 to 90 - cloverleaf

3. How does insulin inhibit glycogenolysis
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Exons
17 - 17 letters in von Recklinghausen
Binds to LDL receptor - mediates VLDL secretion

4. What does apoE do
SnRNPs
RNA
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Mediates extra remnant take up

5. What is axonemal dynein
1 -25 OH2 D3 = calcitriol
Catabolic processes to carry reducing equivalents away as NADH
Stop codon is recognized by release factor - and completed protein is released from ribosome
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets

6. What metabolic rxns occur in both the cytoplasm and mitochondria
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Metanephrine
TRNA

7. In eukaryotes - What does RNA poly II make
Degredation of dietary TG in small intestine
MRNA
BOne
Polycystic liver disease - berry aneurysm - mitral valve prolapse

8. What are the findings with homocystinuria and What amino acid is needs to be supplemented
Alpha 1 -4 glucosidase
Mediates extra remnant take up
PMNs
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine

9. What is the mutation in beckers muscular dystrophy - What is the severity and time of onset
Isocitrate dehydrogenase
3' end (with CCA)
ATP and alanine
Mutated dystrophin gene - less severe - adolescence

10. How does ouabain work
Rb and p53
Four
Inhibits the Na/K pump by binding the K side
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage

11. What defects characterize velocardiofacial syndrome
Reads usual codon but inserts wrong AA
Palate - facial and cardiac defects
Tryosine hydroxylase
Diphyllobothrium latum

12. How many ATP are created by aerobic metobolism of glucose in muslce via what shuttle
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
30 - glycerol -3- phosphate shuttle
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine
3' end (with CCA)

13. Is there any requirement for homology in NHEJ
O- oligosaccharaides
No - its non homologous
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Inc melt - dec fluidity

14. What does biotin def cause
17 - 17 letters in von Recklinghausen
Cofactor for LPL
Dermatitis - alopecia - enteritis
Metanephrine

15. What is the source of energy in the fasting state between meals
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Lysine and arginine
Ribos first then deoxyribos with ribonucleotide reductase

16. What is the amino acid precuros for niacin and serotonin/melatonin
Oxidative and nonoxidative - no ATP produced or used
Carbomoyl phosphate synthetase I
Tryptophan
Marasmus - muscle wasting

17. Severe fasting hypoglycemia - inc glycogen storage in liver - inc blood lactate - hepatomegaly - dz and def enzyme
Von gierkes - glucose 6 phosphatase
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
5' to 3'
Wrinkles and acne

18. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
Ribose 5- P to PRPP
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Inc glucagon - inc cAMP - inc PKA

19. What else can phosphoylate phosphorylase kinase
Collagen
Ca/calmodulin in muscle to coordinate with muscle activity
Liver and leafy veggies
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted

20. Which antihelminthe drugs work on microtubules
Colchicine
Marasmus - muscle wasting
Mebendazole/thiabendazole
X linked frame shif mutation

21. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
Tryptophan
Purines= A - G pyrimidine = C - T (U)
FAP
Keep glutathione reduced so it can detoxify free radicals and peroxides

22. How many ATP are produced by anearobic glycolysis per molecule of glucose
Must be both activated and inactivated for cell cycle to progress
Two
Intermediate filaments
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis

23. What is a missense mutation
Oxidized hemoglobin precipiated within RBCs
Changed AA (convservative - new AA is similar in chemical structure)
Oligomycin
Kwashiorkor - small child with swollen belly

24. What does a kinase do
Uses ATP to add high energy phophate group onto substrate
THFs
Liver hepatocytes and steroid producing cells of the adrenal cortex
Pyruvate to oxaloacetate (3C to 4C)

25. If two alleles are present - but the active allele is deleted - what happens
Disease
Phenylketones in urine
Dopa decarboxylase
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.

26. What does Alports syndrome cause and why
ATP and methionine
Karyotyping
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation

27. What part of the pre mRNA contains the actual genetic information coding for protein
Liver - also in kidney and gut epithelium
Glycogen and FFA oxidation; glucose conserved for final sprinting
Exons
Defect in fibrillin

28. How many rings do pyrimidines have
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Core proteins
MEN - 2A and 2B with ret gene
1 ring

29. In what cells do the respiratory burst occur
Peroxide
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
FAP
PMNs

30. What occurs to oxaloacetate in starvation and DKA
SnRNPs and other proteins
Histidine
CTG
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies

31. In eukaryotes - What does RNA poly I make
After citruline
Adenosine to inosine
RRNA
Thymic - parathyroid and cardiac

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

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33. inc glycogen in muscle but can't break it down - painful muscle cramps - myglobinuria with strenuous exercise - dz and enzyme

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34. cell signaling defect of fibroblast growth factor (FGF) receptor 3 - results in dwarfism - short limbs - head/trunk nl size - associated with advanced paternal age
Achondroplasia
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
Fibroblast
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects

35. What are the glucogenic essential amino acids
Met - val - arg his
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
Disorder of aromatic amino acid metabolism
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

36. Delivers hepatic cholesterol to peripheral tissues - formed by LPL modification of VLDL in the peripheral tissue - taken up by target cells via RME
Free ribosomes
Hereditary spherocytosis
Colchicine
LDL

37. What causes Marfan syndrome
Disorder of aromatic amino acid metabolism
Schilling test
Q -
Defect in fibrillin

38. What are the symptoms of vit A def
Night blindness - dry skin
Facial flushing
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Type II

39. What inhibits pyruvate kinase
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
ATP and alanine
Pyruvate - NAD+ - CoA
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes

40. An inability to convert orotic acid to UMP would be caused by a deficiency either of which two enzymes

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41. What does commaless - nonoverlapping genetic code refer to...
30 - glycerol -3- phosphate shuttle
NF2 on chromosome 22
HVA
Read from a fixed starting point as a continuous sequence of bases

42. What are the fetal screening measures for Down
Histidine
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Tryosine hydroxylase

43. What is the main source of folate
Transmitted only through mother - all offspring of affected females may show signs of disease
Removes phosphate group from substrate
Metanephrine
Foliage - small reserve in liver - eat green leaves

44. What is the activated carrier for aldehyddes
TTP
Biotin
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
Two

45. bilateral acoustic schwannomas - juvenile cataracts
NF2 on chromosome 22
Degradation of TG remaining in IDL
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Nature and severity of phenotype vary from 1 individual to another - NF type 1

46. What does the mutation in the gene cause in protein synthesis
NADPH
Abnormal protein folding - degradation before reaching cell surface
Alpha and beta tubulin - dimers have two GTP bound
Acetoacetate and beta hydroxybutyrate

47. trinucleotide repeat fo myotonic dystrophy
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
CTG
Degradation of TG remaining in IDL
Failure to track objects or develop a social smile

48. Broadly - What can cause fat - soluble vitamin deficiencies
ATP
Skin
Procollagen - triple helix of 3 alpha collagen chains
Malapsorption syndromes like sprue or CF or mineral oil intake

49. What collagen type is most frequently affected in ehlers danlos and What are common complications
32 - malate aspartate shuttle
III - joint dislocation - anuerysms - organ rupture
Lacks glucose 6 phophatase
Locus heterogeneity - ocular albinism is x- linked recessive

50. What happens in folate def
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
5' to 3'
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs