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Biochemistry

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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 lab technique is use to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments
Microarrays
Adds 2 carbon with the help of biotin
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Peroxide

2. What kind of RNA is transported out of the nucleus
Oxidative is irreversible
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Only processed RNA

3. In what direction are DNA and RNA synthesized

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4. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
Neuralgia
Wobble
Cytosol - F 1 -6 BP to fructose 6 Phosphate
CG- 3 > AT-2 - More CG content - melting point goes up

5. What is codominance and give an example
More than 1 codon may code for the same amino acid
Neither of 2 alleles is dominant - blood groups
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)
Metanephrine

6. What 3 amino acids are necessary for purine synthesis
Mediates extra remnant take up
Antioxidant - protects RBCs and membrances from free radical damage
Glycine - aspartate - glutamine
Alcohol version of glucose - can trap glucose in cell - aldose reductase

7. What stretch of DNA that alters gene expression by binding of transcription factors
After citruline
Enhancers
Skin
Williams syndrome

8. Do balanced translocations cause abnl phenotype
No
Cytosol
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Glycolysis and aerobic respiration

9. 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
Liver hepatocytes and steroid producing cells of the adrenal cortex
Alanine
Phosphorylation - glycosylation - hydroxylation

10. How many nucTIDEs is a tRNA and What does the secondary sturcture form
Metanephrine
Change resulting in early stop codon
75 to 90 - cloverleaf
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais

11. What does Alports syndrome cause and why
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Particular sequence of DNA where replicatino begins - may be single of multiple
Glucose -6 phosphate

12. Mediates reverse cholesterol transport from periphery to liver - acts as respository for apoC an apoE - secreted from both liver and small intestine
DsRNA promotes degradation of target mRNA knocking down gene expression
Oxidized hemoglobin precipiated within RBCs
FISH
HDL

13. How do cardia glycosides work
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
TTP
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
ATP hyrdolysis couple to energetically unfavorable rxns

14. What are the reactants for glycolysis
Palate - facial and cardiac defects
Glucose - 2Pi - 2ADP - 2NAD+
Von Gierke's - Pompe - Cori - McArdle
Ca/calmodulin in muscle to coordinate with muscle activity

15. What are the only purely ketogenic amino acids
Carnitine shuttle - acyl - coa from cyto to mito
Orotic acid to UMP
Lysine and leucine
ATP hyrdolysis couple to energetically unfavorable rxns

16. What does aminoacyl tRNA synthetase do the AA before and after it binds to tRNA - and what happens if it's the wrong the match
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Scrutinizes - hydrolyzes the bond
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)

17. spheroid RBCs due to spectrin or ankyrin defect - hemolytic anemia - inc MHCH - splenectomy is curative
Proline and glycine (non glycosylated forms)
Degradation of TG stored in adipocytes
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Hereditary spherocytosis

18. What tissue samples are used for karyotyping
CGG
Blood - bone marrown - amniotic fluid - placental tissue
Glycogen synthase
Must be both activated and inactivated for cell cycle to progress

19. What do albinism - ARPKD - CF - glycogen storage diseases - hemochromatosis - mucopolysaccharidoses (except Hunters) PKU - sickle cell - sphingolipodoses (except Fabrys) thalassemias have in common
Rb and p53
Autosomal recessive diseases
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

20. Which antifungal drugs work on microtubules
Griseofulvin
Same AA - often base change in 3rd position of codon (tRNA wobble)
Schilling test
Binds 50S - blocking translocation

21. What metabolic rxns occur in the mitochondria
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
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
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Polycystic liver disease - berry aneurysm - mitral valve prolapse

22. What is dominant negative mutation and give an example
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
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
BOne
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)

23. What is the energy source for translocation
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
GTP
SNP
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)

24. What makes up a nucleoside
LCAT (lecithin cholesterol acyltransferase)
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
Base + ribose
Ile - phe - thr - trp

25. Which type of chromatin is condensed - transcriptionally inactive - sterically inaccessible?
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Heterochromatin = HighlyCondensed
GAA
Malonyl coa

26. Which amino acids are elastin rich in
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Proline and glycine (non glycosylated forms)
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR

27. What is uniparental disomy
II - VII - IX - X (1972) protein C and S
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Adds an inorganic phosphate onto substrate without using ATP
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints

28. What is the defect in I- hyperchylomicronemia
APRT + PRPP
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
RRNA

29. What metabolic rxns occur in both the cytoplasm and mitochondria
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
NAD+
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two

30. What chromosome is the NF gene on...
NADH - NADPH - FADH2
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
Rb and p53
17 - 17 letters in von Recklinghausen

31. What converts limit dextran to glucose
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
Niacin - constituent of NAD and NADP - derived from tryptophan
Debranching enzyme
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR

32. What is the Name and fxn of vit B5
Epithelial cells
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

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

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34. 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
Cartilage - hyaline - vitreous body - nucleus pulposus
BOne
Foliage - small reserve in liver - eat green leaves
Alkaptonuria - may have debiliating arthralgias

35. What is the wernicke - korsakoff clinical picture
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Antioxidant - protects RBCs and membrances from free radical damage
Liver and leafy veggies
Ca/calmodulin in muscle to coordinate with muscle activity

36. Severe fasting hypoglycemia - inc glycogen storage in liver - inc blood lactate - hepatomegaly - dz and def enzyme
Glycogen synthase
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light
Citrate - acetyl coa from mito to cyto
Von gierkes - glucose 6 phosphatase

37. Fluorescent DNA or RNA probe binds to specific gene of interest - used for specific localization of genes and direct visualization of anomalies - like microdeletions - at molecular level
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Specific glycosylases - AP endonuclease
FISH

38. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
Neither of 2 alleles is dominant - blood groups
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns

39. What are ketone bodies made from - where are they metabolized and how are they excreted
Glutamate
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
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
HMG- CoA - brain to 2 molecules of acetyl - Coa - excreted in urine

40. Type II cartilage
CarTWOlage
Terminal regions - tropocollagen
Arg - lys - his - arg is most basic - has has no charge at body pH
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons

41. What is the function and name of vit B6
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Deamination
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Pyroxidine - converted to pyroxidine phosphate a cofactor used in transamination - decarboxylation - glycogen phosphorylase - cystathionine synthesis and heme synthesis - required for synthesis of niacin and tryptophan

42. What converts DOPA to dopamine
Microarrays
Essential fructosuria - fructokinase AR
Dopa decarboxylase
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1

43. Which anti gout drugs work on microtubules
Inc CPK and muscle biopsy
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Same as sprint + OXPHOS
Colchicine

44. bilateral acoustic schwannomas - juvenile cataracts
NF2 on chromosome 22
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Leu - lys
Schilling test

45. decreases In what substances can cause PKU
Phenylketones in urine
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Fasting
Autosomal recessive diseases

46. What are the functinos of vitamin A
Breaks down acyl - coa to acetyl coa groups in mito
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Deamination
Glucose -6 phosphate

47. What happens in a B12 def
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Protein
Marfans
ATP and methionine

48. What is used to diagnose muscular dystrophies
Cleft palate - cardiac abnl - pregs test
3' end (with CCA)
Inc CPK and muscle biopsy
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O

49. What is the fxn of vit K
VMA
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Oxidized hemoglobin precipiated within RBCs

50. What does amino acid catabolsim results in the formation of what?
Type II
IDL
Acetly- CoA - CO2 - NADH
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted