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Biochemistry

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1. Is there any requirement for homology in NHEJ
No - its non homologous
More than 1 codon may code for the same amino acid
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Prevent strands from reannealing

2. What are the products for glycolysis
Core proteins
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
TTP
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O

3. When are glycogen reserves depleted
SNP
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Only processed RNA
After day 1

4. What is the results of vit B1 def
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Neurons
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Microarrays

5. What are the findings in Lesch - Nyhan
Inc dicarboxylic acids - dec in glucose and ketones
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
Promotor - TATA box - and CAAT box - AT rich
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis

6. What is the TX for CF and What does it do
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Lysine and leucine
Fasting

7. What shuttle is used in fatty acid degredation and What does it move and From where to where
Glycine
Glucose - 2Pi - 2ADP - 2NAD+
Carnitine shuttle - acyl - coa from cyto to mito
After citruline

8. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
Flagella - cilia - mitotic spindles
B6
Euchromatin
Comlex II

9. What happens in a B12 def
Familial hypercholesterolemia - hyperlipidemia type IIA
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible

10. What kind of branches do glycogen branches have
Catabolic processes to carry reducing equivalents away as NADH
Alpha 1 -6 and alpha 1 -4
Exons
Lariat shape in order and remove intron precisely and join 2 exons

11. What is the defect in II A familial hypercholesterolemia
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Liver - ovaries - seminal vesicles
1 kind with multiple subunits
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year

12. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Glucose 6 phosphatase
Accelearted muscle breakdown
CFTR gene - 7 - Phe 508

13. What is codominance and give an example
Orotate precursor - with PRPP added later
Connective tissue
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
Neither of 2 alleles is dominant - blood groups

14. phosphorylation of glucose to yield glucose 6 phosphate serves as the 1st step of what rxns and what enzymes catalyze it
PMNs
P2 +2pq+ = 1
Each codon specifies only 1 amino acid
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase

15. What does apoCII do
Myeloperoxidase
Cofactor for LPL
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Glycine

16. What are the symptoms of vit A def
Robertsonian translocation and mosaicism
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Night blindness - dry skin

17. What co - factors are required for the pyruvated dehydrogenase complex
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Mebendazole/thiabendazole
3' end (with CCA)
PFK - rate limiting enzyme

18. Where is vit A found in the diet
Liver and leafy veggies
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Inhibits 50S peptidyltransferase
Inc vit B6

19. What does a dehydrogenase do
Acetyl - CoA carboxylase (ACC)
Phenylalanine hydroxylase
Oxidizes substrate
Adenosine to inosine

20. bilateral - massive enlargement of of kidneys due to multiple large cysts
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
ADPKD
Inhibits RNA polymerase II - found in death cap mushrooms

21. What is the fxn of vit E
Antioxidant - protects RBCs and membrances from free radical damage
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies
CO2 + NH4 needs carbamoyl phosphate synthase I - in the mitochondria

22. What is the defect in cystinuria
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Marfans
ATP and alanine
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year

23. What are the results of CF on male fertility
Antibiotic use or excessive ingestion of raw eggs
III - joint dislocation - anuerysms - organ rupture
Males are infertile due to bilateral absence of vas deferens
Kidney - ears - eyes

24. What does desmin stain for
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
Muscle
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Inc melt - dec fluidity

25. Where is glucokinase found - What are the Km and Vmax - and what induces it
Inc melt - dec fluidity
1 ring
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin

26. What is the activated carrier for methyl groups
Mediates extra remnant take up
SAM
FMR1 gene - methylation - associated with chromosomal breakage
Particular sequence of DNA where replicatino begins - may be single of multiple

27. How do fluoroquinolones work
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Attachment of ubiquitin to defective proteins tag them for breakdown
Inhibit DNA gyrase specific for prokaryotic topoisomerase
Each codon specifies only 1 amino acid

28. What is the initial transcript called and What is the capped and tailed transcript called
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Poly A polymerase - signal is AAUAA
Initial is heterogenous nuclear RNA - the capped and tailed is called mRNA
Accelearted muscle breakdown

29. In what cells do the respiratory burst occur
PMNs
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Exercise: inc NAD/NADH - inc ADP - inc Ca
AMP - fructose 2 -6 BP

30. What is the RER called in neurons and What is made there
B100 and E
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Nissl body - enzyme and NTs

31. What does DNA ligase do
Seals.
Mucus secreting globlet cells and antibody secreting plasma cells
Glucose 6 phosphate dehydrogenase (G6PD)
Assistance of upper extremities to stand up

32. What is sorbitol - how and why is it made
Alcohol version of glucose - can trap glucose in cell - aldose reductase
LCAT (lecithin cholesterol acyltransferase)
GTP
Hyperlipidemia

33. congenital microdeletion of long arm of chromosoe 7 with findings of elfin facies - mental retardation - hypercalcemia - well developed verbal skills - extreme friendliness with strangers - cardiovascular problems
Williams syndrome
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
Inc CPK and muscle biopsy
Glutamate

34. decreases In what substances can cause PKU
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Wernicke - korsakoff - dry and wet beriberi
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22

35. in a 100 meter sprint Where does energy come from
Neuralgia
Lebers hereditary optic neuropathy - degeneration of retinal ganglion cells and axons - leads to acute loss of central vision. Mitochondrial myopathies
Mebendazole/thiabendazole
Stored ATP - creatine phosphate - anaerobic glycolysis

36. Milder form of type I with nl blood lactate levels - dz and enzyme

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37. What is locus heterogeneity and give an example
Malonyl coa
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Scrutinizes - hydrolyzes the bond

38. How does ouabain work
Inhibits the Na/K pump by binding the K side
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
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
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin

39. What does vit B3 def result in
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
B100
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin

40. What causes B12 def
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Active secretion in lungs and GI - reabsorbs in skin
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase

41. What apolipoprotein is on LDL
RNA poly II
Antioxidant - facilitates iron absorption by keeping iron in the Fe2+ reduced state - necessary for hydroxylation of proline and lysine collagen bridges - necessary for dopamine beta hydroxylase which converts DA to NE
Oxidative and nonoxidative - no ATP produced or used
B100

42. A small proportion of Down syndrome is due to What two genetic events
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Robertsonian translocation and mosaicism
B6
Mediates chylomicron secretion

43. What does DNA poly I do?
Prokaryotic only - degrades RNA primer and fills in the gap with DNA
2 pyruvate - 2ATP - 2NADH - 2H+ - 2H2O
Epithelial cells
Ribose 5- P to PRPP

44. What are the purely ketogenic amino acids
Leu - lys
Inhibits the Na/K pump by binding the K side
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Schwann cells - lens - retina - kidneys

45. What is maternal PKU
Tyrosine
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects

46. What does PURe As Gold and CUT The Py stand for
Read from a fixed starting point as a continuous sequence of bases
Elastase - inhibited by alpha1 antitrypsin
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
Purines= A - G pyrimidine = C - T (U)

47. Mild Hurlurs + aggressive behavior no corneal clouding
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
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Schwann cells - lens - retina - kidneys

48. In prokaryotes - What does makes the different types of RNA
IDL
1 kind with multiple subunits
Oral uridine administration
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase

49. What neuroanatomical strutures are injured in wernicke - korsakoff
1 -25 OH2 D3 = calcitriol
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
MRNA - tRNA
Medial dorsal nucleus of thalamus - mamillary bodies

50. What is the defect in I- hyperchylomicronemia
After citruline
Uses ATP to add high energy phophate group onto substrate
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis

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Biochemistry

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