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Biochemistry

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1. What chromosome is the NF gene on...
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
17 - 17 letters in von Recklinghausen

2. What does a dehydrogenase do
Attachment of ubiquitin to defective proteins tag them for breakdown
Ile - phe - thr - trp
Euchromatin
Oxidizes substrate

3. FAP is due to deletion On what gene On what chromosome
APC on chromosome 5
Breaks down acyl - coa to acetyl coa groups in mito
Fructose 1 -6 bisphosphate
Adds an inorganic phosphate onto substrate without using ATP

4. What does CATCH 22 stand for and What causes is...
GTP
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
9+2 arrangement of microtubules
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia

5. What enzyme does fructose metabolism bypass to reach glycolysis
PFK - rate limiting enzyme
Histidine
Neither of 2 alleles is dominant - blood groups
X- linked recessive

6. What is the initial transcript called and What is the capped and tailed transcript called
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
II - VII - IX - X (1972) protein C and S
Connective tissue
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -

7. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
Citrate - acetyl coa from mito to cyto
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Cleft palate - cardiac abnl - pregs test
Four

8. What is the activated carrier for phosphoryl
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
ATP
Lacks glucose 6 phophatase
Dopamine beta hydroxylase

9. What is the activated carrier for methyl groups
Promotor - TATA box - and CAAT box - AT rich
SAM
UGA - UAA and UAG
Eu - methionine - pro - formyl - methionine

10. How is ammonium transported from muscle to the liver for urea cycle
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
Mebendazole/thiabendazole
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
Enhancers

11. How is orotic aciduria inherited
Kidney - ears - eyes
Lacks glucose 6 phophatase
AR
Result from phagocytic removal of heinz bodies my macs - G6PD def

12. What collagen type is most frequently affected in ehlers danlos and What are common complications
III - joint dislocation - anuerysms - organ rupture
Creat a nick in the helix to relieave supercoils created during replication
RRNA
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer

13. 1 g of protein or cabrohydrate = ?kcal
Polyneuritis - symmetrical muscle wasting
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
Four
Glucose -6 phosphate

14. What is the defect in cystinuria
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Familial hypercholesterolemia - hyperlipidemia type IIA
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility

15. What two rxns in in glycolysis require ATP
NADH - NADPH - FADH2
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase

16. What is a nonsense mutation
Change resulting in early stop codon
ATP
ATP and alanine
Occurs when cells in the body have different genetic makeup - can be germline mosaic - which may produce a disease that is not carried by parents somatic cells - lyonization - random X inactivation in females

17. What makes up a nucleotide

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18. Describe the replication fork
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Von Gierke's - Pompe - Cori - McArdle
Type II
Y shaped region along the DNA template where leading nad lagging strands are synthesized

19. hepatosplenomegaly - aseptic necrosis of femur - bone crisis - MACS that look like crumpled tissue paper

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20. Infection with what organism can cause B12 def
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Acetoacetate and beta hydroxybutyrate
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Diphyllobothrium latum

21. What enzyme adds Cl - to the H202 to makes bleach
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Four
Myeloperoxidase
Read from a fixed starting point as a continuous sequence of bases

22. peripheral neuropathy of hands/feet - angiokeratomas - CV/renal disease - dz - def enzyme - acc substrate - inherit
Lariat shape in order and remove intron precisely and join 2 exons
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Dopamine beta hydroxylase
Rb and p53

23. Describe the structure of cilia
Tyrosine
Glycolysis and aerobic respiration
Orotate precursor - with PRPP added later
9+2 arrangement of microtubules

24. What does vit C def cause
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
By inhibiting formation of the initiation complex and cause misreading of mRNA

25. Which amino acids are elastin rich in
Proline and glycine (non glycosylated forms)
Supply sufficient glucose to brain and RBCs and to preserve protein
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
Avidin

26. What bone disorder has x linked dominant inheritance
Targets the proteins for lysosome
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Phenylketones in urine

27. What is the amino acid precursor for catecholamines
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
B6
Phenylalanine
32 - malate aspartate shuttle

28. How does OTC def present
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
30 - 50 - 70
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

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

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30. What do the single stranded binding proteins do
Prevent strands from reannealing
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Aminoacyl - tRNA binds A site - ribosomal rRNA catalyzes peptide bond formation - transfers growing peptide to AA in A site - ribosome advances 3 nucTIDE toward 3' end of RNA - moving peptidyl RNA to P side
Ribos first then deoxyribos with ribonucleotide reductase

31. Of the four possible fates for pyruvate - which ends anaerobic glycolysis as in RBCs - leukocytes - kidney medulla - lens - testes and cornea
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Isocitrate dehydrogenase
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway
Lactate

32. How does patients present with ADPKD
Flank pain - hematuria - HTN - progressive renal failure
Failure to track objects or develop a social smile
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR

33. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
Zero
B-100 - CII and E
Oxidative is irreversible
CG- 3 > AT-2 - More CG content - melting point goes up

34. Describe robertsonian translocation
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it

35. 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
Methionine encode by only 1 codon (AUG)
APC on chromosome 5
Cleft palate - cardiac abnl - pregs test

36. What defects characterize velocardiofacial syndrome
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
Palate - facial and cardiac defects
Stop codon is recognized by release factor - and completed protein is released from ribosome
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes

37. progressive neurodegeneration - hepatosplenomegaly - cherry red spot on macula - foam cells
Inhibits EtOH dehydrogenase and is an antidote for methanol and ethylene glycol poisoning
Fibrofatty replacement of muscle - cardiac myopathy
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Neimann - pick - sphingomyelinase - sphingomyelin - AR

38. What produces NADPH
MRNA
Stop codon is recognized by release factor - and completed protein is released from ribosome
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
HMP shunt

39. Of the four possible fates for pyruvate - which one is a transition from glycolysis to TCA cycle
Dec DNA - dec lymphos leads to SCID
GTP
Protein kinase A
Acetyl - CoA

40. What substance inside the cell reduces glutatione
3' end (with CCA)
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
NADPH
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting

41. How do aminoglycosides work
SnRNPs
By inhibiting formation of the initiation complex and cause misreading of mRNA
Thymic - parathyroid and cardiac
Lariat shape in order and remove intron precisely and join 2 exons

42. What does apoE do
Uses ATP to add high energy phophate group onto substrate
Base + ribose + phosphate (3' -5') phosphodiester bond
Mediates extra remnant take up
Seals.

43. What is the most common urea cycle disorder and What is the mode of inheritance?
Glutamate
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Cleft palate - cardiac abnl - pregs test
2 rings

44. Describe the location and fxn of the Na/K ATPase
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Fructose 1 -6 bisphosphate

45. Type IV collagen
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Removes phosphate group from substrate
Basement membrane or basal lamina
Skin

46. What does apoB48 do
Fed
Mucus secreting globlet cells and antibody secreting plasma cells
Mediates chylomicron secretion
Microtubules

47. What does high cholesterol or long saturated fatty acid content do to the melting temperature and fluidity
Oxalacetate
Inc glucagon - inc cAMP - inc PKA
Muscle
Inc melt - dec fluidity

48. What makes up a nucleoside
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Base + ribose
UDP glucose pyrophosphorylase
Fabrys - alpha galactosidase A - ceramide trihexoside - XR

49. What happens in termination of proteins synthesis
Myeloperoxidase
Stop codon is recognized by release factor - and completed protein is released from ribosome
Inhibits RNA polymerase II - found in death cap mushrooms
17 - 17 letters in von Recklinghausen

50. How do glucagon/epi lead to glycogenolysis
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Biotin
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

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Biochemistry

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