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Biochemistry

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1. What two amino acids are required druing periods of growth and why
Arg and his inc in histones Which bind negatively charged DNA
Dermatitis - alopecia - enteritis
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light

2. What is the result of vit B5 def
Antibiotic use or excessive ingestion of raw eggs
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
25OHD3

3. central and peripheral demyelination with ataxia and dementia
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Glucose 6 phosphate dehydrogenase (G6PD)
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins

4. What does PURe As Gold and CUT The Py stand for
Purines= A - G pyrimidine = C - T (U)
Polycystic liver disease - berry aneurysm - mitral valve prolapse
30 - glycerol -3- phosphate shuttle
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes

5. Describe robertsonian translocation
Inc CPK and muscle biopsy
Glycogen synthase
VMA
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22

6. Describe the location and fxn of the Na/K ATPase
Asp and Glu
Hypoxanthine to xanthing and xanthine to uric acid
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR

7. Which phase of the HMP shunt is reversible and Which is irreversible
Inc melt - dec fluidity
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Oxidative is irreversible
3' end (with CCA)

8. What enzymes metabolize fatty acids and amino acids
Anabolic processes as a supply of reducing equivalents
Acetoacetate and beta hydroxybutyrate
CTG
5' of the incoming nucleotide

9. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
Inc melt - dec fluidity
B12 and folate
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Malabsorption and steatorrhea (ADEK)

10. What is linkage disequilibrium
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Polycystic liver disease - berry aneurysm - mitral valve prolapse
GTP
Blood - bone marrown - amniotic fluid - placental tissue

11. What is the fxn of vit E
Inhibits 50S peptidyltransferase
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Antioxidant - protects RBCs and membrances from free radical damage

12. Why is G6PD def more common among patients of african decent
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
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis
Protective against malaria
Citrate - acetyl coa from mito to cyto

13. What inhibits the carnitine shuttle
Basement membrane or basal lamina
Lariat shape in order and remove intron precisely and join 2 exons
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
Malonyl coa

14. In eukaryotes - What does RNA poly I make
Robertsonian translocation and mosaicism
Removes phosphate group from substrate
Neurons
RRNA

15. What metabolic rxns occur in the cytoplasm
Tyrosine
Inc CPK and muscle biopsy
ATP and methionine
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)

16. Very Poor Carbohydrate Metabolism stands for 4 of the glycogen storage diseases - What are thy

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17. What does vit C def cause
FMR1 gene - methylation - associated with chromosomal breakage
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Antibiotic use or excessive ingestion of raw eggs
Enhancers

18. What is the activated carrier for electrons
NADH - NADPH - FADH2
LCAT (lecithin cholesterol acyltransferase)
PCR - denaturation - annealing - elongation
Wobble

19. What is the defect in I- hyperchylomicronemia
Particular sequence of DNA where replicatino begins - may be single of multiple
Collagen
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet

20. What collagen type is most frequently affected in ehlers danlos and What are common complications
III - joint dislocation - anuerysms - organ rupture
Orotate precursor - with PRPP added later
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
P+q = 1

21. What enzyme def can cause emphysema
Alpha1 antitrypsin
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
UDP glucose pyrophosphorylase
Ribose 5- P to PRPP

22. Inhibition of thymidilate synthase and and DHFR lead to decrease In what substance
Defect in fibrillin
DTMP
Alanine
Oxidative is irreversible

23. What does apoA 1 do
GAA
Must be both activated and inactivated for cell cycle to progress
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Activates LCAT

24. How does warfarin work
Pseudomonas and s aureus
Vit K antagonist
RNA poly II
CTG

25. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
Euchromatin
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Inc permeability of membrane causing a dec in proton gradient and inc in O2 consumption - ATP synthesis stops - but electron transport continues to produce heat
Alpha1 antitrypsin

26. What does vit E def cause
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination
Only processed RNA
Basement membrane or basal lamina
VLDL

27. Where does gluconeogenesis primarily happen and What are other sites where the enzymes are located
Liver - also in kidney and gut epithelium
NADH - NADPH - FADH2
Change resulting in early stop codon
Purines= A - G pyrimidine = C - T (U)

28. In addition to fructose and galactose - what sugards should be excluded from the diets of patients with disorders of fructose or galactose metabolism
Liver hepatocytes and steroid producing cells of the adrenal cortex
Sucrose = glucose + fructose - lactose = glucose + galactose
Intermediate filaments
Nonsense > missense > silent

29. What is the composition of urea and where do each part derive from
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Mitochondria
Males are infertile due to bilateral absence of vas deferens
Williams syndrome

30. 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
Carbomoyl phosphate synthetase I
FISH
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Pseudomonas and s aureus

31. What causes maple syrup urine disease and What does it lead to...
MRNA - tRNA
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
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

32. What catacholamine step is SAM required for
Inc glucagon - inc cAMP - inc PKA
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
ADPKD
Conversion of NE to epi

33. What is the RDE of glycogenolysis
Creat a nick in the helix to relieave supercoils created during replication
Glycogen phosphorylase
Males are infertile due to bilateral absence of vas deferens
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15

34. What is the breakdown product of dopamine
Inc dicarboxylic acids - dec in glucose and ketones
Neurons
HVA
Mediates extra remnant take up

35. What does high cholesterol or long saturated fatty acid content do to the melting temperature and fluidity
VMA
Inc melt - dec fluidity
Liver hepatocytes and steroid producing cells of the adrenal cortex
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA

36. What 3 syndromes are associated with vit B1 def
Epithelial cells
Wernicke - korsakoff - dry and wet beriberi
VLDL
Schwann cells - lens - retina - kidneys

37. What does SAM do
Transfers methyl units
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
B100
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization

38. What does CATCH 22 stand for and What causes is...
Blood - bone marrown - amniotic fluid - placental tissue
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Acetyl - CoA carboxylase (ACC)
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR

39. What does the CFTR channel do in the lungs - GI tract and skin
Methionine encode by only 1 codon (AUG)
Connective tissue
HDL
Active secretion in lungs and GI - reabsorbs in skin

40. Patients with chronic granulomatous disease are at increased risk of infection From which kind of organisms
2 -4 DNP - aspirin
Alpha 1 -4 glucosidase
Mediates extra remnant take up
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus

41. What is codominance and give an example
Inc glucagon - inc cAMP - inc PKA
NADPH
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Neither of 2 alleles is dominant - blood groups

42. What is the name is fxn of vit B3
Change resulting in early stop codon
Ribos first then deoxyribos with ribonucleotide reductase
PMNs
Niacin - constituent of NAD and NADP - derived from tryptophan

43. metaphse chromosomes are stained - ordered and numbered according to morphology - size - arm length ratio - banding pattern
Pseudomonas and s aureus
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Tryosine hydroxylase
Karyotyping

44. bilateral - massive enlargement of of kidneys due to multiple large cysts
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Inhibit DNA gyrase specific for prokaryotic topoisomerase
NF2 on chromosome 22
ADPKD

45. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
Supply sufficient glucose to brain and RBCs and to preserve protein
Cleft palate - cardiac abnl - pregs test
Keep glutathione reduced so it can detoxify free radicals and peroxides
Mediates extra remnant take up

46. What does DNA poly III do?

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47. How many ATP are created by aerobic metabolism of glucose in the heart and liver via what shuttle
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
Base + ribose
32 - malate aspartate shuttle
Liver hepatocytes and steroid producing cells of the adrenal cortex

48. What are the findings with homocystinuria and What amino acid is needs to be supplemented
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Sulfation
By inhibiting formation of the initiation complex and cause misreading of mRNA
Q -

49. What do the single stranded binding proteins do
Prevent strands from reannealing
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase

50. What tissues have only aldose reductase
Schwann cells - lens - retina - kidneys
Flagella - cilia - mitotic spindles
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

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Biochemistry

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