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Biochemistry

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1. What ribosomes do prokaryotes have
B-100 - CII and E
Neurofibromatosis type 1 (von Recklinghausens disease)
Arg and his inc in histones Which bind negatively charged DNA
30 - 50 - 70

2. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
X linked frame shif mutation
Phosphorylation - glycosylation - hydroxylation
Lactate
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia

3. FAP is due to deletion On what gene On what chromosome
APC on chromosome 5
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Glutamine PRPP amidotransferase
LDL

4. cell signaling defect of fibroblast growth factor (FGF) receptor 3 - results in dwarfism - short limbs - head/trunk nl size - associated with advanced paternal age
They yield only acetyl - CoA equivalents
Neuralgia
Achondroplasia
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol

5. What does pancreatic lipase do
Degredation of dietary TG in small intestine
II - VII - IX - X (1972) protein C and S
Adds 2 carbon with the help of biotin
30 - 50 - 70

6. What happens do glycogen in skeletal muscle during exercise
Glycogenolysis to form glucose
SnRNPs
Defect in fibrillin
SNP

7. What happens in folate def
Alpha 1 -6 and alpha 1 -4
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
Alanine
FAP

8. What is maternal PKU
HMP shunt
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Each codon specifies only 1 amino acid

9. What is the smallest mutation a mircoarray can detect
Fasting
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)
SNP
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle

10. What are cyclin - CDK complexes
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
Glucose -6 phosphate
Leu - lys
Must be both activated and inactivated for cell cycle to progress

11. What happens in zinc def
Isocitrate dehydrogenase
Carbomoyl phosphate synthetase II
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Blood - bone marrown - amniotic fluid - placental tissue

12. What does amino acid catabolsim results in the formation of what?
Particular sequence of DNA where replicatino begins - may be single of multiple
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted

13. How many nucTIDEs is a tRNA and What does the secondary sturcture form
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Prevent strands from reannealing
Catabolic processes to carry reducing equivalents away as NADH
75 to 90 - cloverleaf

14. What is RNAi used for
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
Mitochondria
Breaks down acyl - coa to acetyl coa groups in mito
DsRNA promotes degradation of target mRNA knocking down gene expression

15. Pts with albinism are at inc risk For what cancer
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR
Lactate
25OHD3
Skin

16. In eukaryotes - What does RNA poly III make
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Inc vit B6
MEN - 2A and 2B with ret gene
TRNA

17. What does CATCH 22 stand for and What causes is...
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Regulatory proteins that control cell cycle events; phase specific; activate CDKs

18. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
B12 and folate
Inc glucagon - inc cAMP - inc PKA
Anabolic processes as a supply of reducing equivalents
Regulatory proteins that control cell cycle events; phase specific; activate CDKs

19. What is the energy source for translocation
GTP
Epithelial cells
Oligomycin
Antibiotic use or excessive ingestion of raw eggs

20. What is the amino acid precursor for GABA and glutathione
Polyneuritis - symmetrical muscle wasting
Glutamate
Silencers
Change resulting in early stop codon

21. Do balanced translocations cause abnl phenotype
Lysine and arginine
Degradation of TG remaining in IDL
No
Adds 2 carbon with the help of biotin

22. What 3 amino acids are necessary for purine synthesis
Autosomal recessive diseases
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
Glycine - aspartate - glutamine
RNA

23. What happens in vit D def
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Sons of heterozygous mothers have 1/2 half chance of being affected - no male to male transmission - and often more severe in males - heterozygous females may be affected
Debranching enzyme

24. What enzyme def can cause emphysema
Liver and leafy veggies
Plasma membrane - 3Na out - 2K in - ATP on cytoplasmic side
Locus heterogeneity - ocular albinism is x- linked recessive
Alpha1 antitrypsin

25. Inhibition of thymidilate synthase and and DHFR lead to decrease In what substance
Inc dicarboxylic acids - dec in glucose and ketones
Blood - bone marrown - amniotic fluid - placental tissue
Cytosol - F 1 -6 BP to fructose 6 Phosphate
DTMP

26. nucleotide repeat for fragile x
CGG
Skin
NADPH
Two

27. What test is used for B12 def
NADH - NADPH - FADH2
Schilling test
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis

28. elevated LDL due to defective or absent LDL receptor - heterozygotes have cholesterol ~300 - homozygotes ~700
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss
Phenylalanine
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
Familial hypercholesterolemia - hyperlipidemia type IIA

29. What are the results of CF on male fertility
Males are infertile due to bilateral absence of vas deferens
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Lariat shape in order and remove intron precisely and join 2 exons
Changed AA (convservative - new AA is similar in chemical structure)

30. What happens in elongation of protein synthesis

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31. How is vit D stored
25OHD3
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
They yield only acetyl - CoA equivalents
Creat a nick in the helix to relieave supercoils created during replication

32. What does the golgi add to serine and threonine residues
Locus heterogeneity - ocular albinism is x- linked recessive
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
O- oligosaccharaides

33. What causes maple syrup urine disease and What does it lead to...
Liver - also in kidney and gut epithelium
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
4 under the floor
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin

34. How do permanent cells grow and regenerate and What are examples of permanent cells
Remain in G0 - regenerate from stem cells - neurons - skeletal/cardiac muscle - RBCs
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
ATP and methionine
Lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava - stretch.

35. What is a missense mutation
Malabsorption (sprue - enteritis) lack of intrinsic factor from pernicious anemia - gastric bypass surgery or absence of terminal ileum as in Crohns
Changed AA (convservative - new AA is similar in chemical structure)
Y shaped region along the DNA template where leading nad lagging strands are synthesized
HDL

36. What is the exception to genetic redundancy
Methionine encode by only 1 codon (AUG)
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1
Transfers methyl units
Liver - also in kidney and gut epithelium

37. Type II collagen
NAD+
Cartilage - hyaline - vitreous body - nucleus pulposus
Creat a nick in the helix to relieave supercoils created during replication
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive

38. What is the RDE of gluconeogenesis
APRT + PRPP
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)
Fructose 1 -6 bisphosphate
OTC has hyperammonemia - orotic aciduira does not

39. Eukaryotic and prokaryotic DNA synthesis is blank and involves both blank and blank strands
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
Liver hepatocytes and steroid producing cells of the adrenal cortex
Glycogen phosphorylase
Semiconservative - continuous and discontinuous strands (okazaki fragments)

40. What is anticipation and give an example
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Delayed wound healing - hypogonadism - dec in adult hair - dysguesia - anosmia - may predispose to EtOH cirrhosis
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact

41. characterize mitochondrial inheritance
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Same AA - often base change in 3rd position of codon (tRNA wobble)
Transmitted only through mother - all offspring of affected females may show signs of disease
Cytosol - F 1 -6 BP to fructose 6 Phosphate

42. What does hepatic TG lipase do
Cartilage - hyaline - vitreous body - nucleus pulposus
Degradation of TG remaining in IDL
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
CAG - 4

43. What are the purely ketogenic amino acids
Thymic - parathyroid and cardiac
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Leu - lys
Early in life - AR - inability to synthesize lipoproteins due to def in apoB100 and B48 - intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons - failure to thrive - steatorrhea - acanthocyt

44. Why can't muscle produce in gluconeogenesis
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Lacks glucose 6 phophatase
Microtubules

45. In which structures do you find microtubules
Poly A polymerase - signal is AAUAA
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis
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
Flagella - cilia - mitotic spindles

46. Accurate base pairing is required only in the first two nucleotide positions of an mRNA codon - so conds differeing in the 3rd position may code for the same tRNA/AA due to degenerate genetic code
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Acetoacetate and beta hydroxybutyrate
Wobble
Phenylethamolamine N methyl transferase

47. What step of uric acid synthesis does xanthine oxidase catalyze
B100
Hypoxanthine to xanthing and xanthine to uric acid
Alkaptonuria - may have debiliating arthralgias
NADH - NADPH - FADH2

48. Where is glucose 6 phosphatase found and What does it do
Inhibits RNA polymerase II - found in death cap mushrooms
Makes RNA primer on which DNA poly III can initiate replication
In ER - glucose 6- P to glucose
Mutated dystrophin gene - less severe - adolescence

49. What are the symptoms of vit A excess
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
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
If pt inherits or develops a mutation in a tumor suppresor gene - the complementary allele must be deleted/mutated before cancer develops - not true of oncogenes - retinoblastoma
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia

50. What are pyrimidines made from
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Orotate precursor - with PRPP added later
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Infection - free radicals generated by inflammatory response

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Biochemistry

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