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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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1. What are the symptoms of vit A excess
FISH
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Adenosine to inosine
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia

2. Type II collagen
Diphyllobothrium latum
Core proteins
Proton gradient
Cartilage - hyaline - vitreous body - nucleus pulposus

3. Which are the acidic amino acids
Tryosine hydroxylase
Stop codon is recognized by release factor - and completed protein is released from ribosome
Asp and Glu
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase

4. What does vit C def cause
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Protein
Regulatory proteins that control cell cycle events; phase specific; activate CDKs

5. How does ethanol induce hypoglycemia
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users
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
Dec DNA - dec lymphos leads to SCID

6. What kind of branches do glycogen branches have
Alpha 1 -6 and alpha 1 -4
Deamination
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Bone - skin - tendon - dentin - fascia - cornea - late wound repair

7. What are the findings in Down's syndrome
Avidin
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
ATP hyrdolysis couple to energetically unfavorable rxns
Neg to pos

8. NADPH are used In what 4 things
TRNA
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase

9. What is the energy source after day 3 of starvation
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
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
Williams syndrome
Antibiotic use or excessive ingestion of raw eggs

10. What is incomplete penetrence and give an example
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
N to C
Not all individuals with a mutant genotype show the mutant phenotype
P+q = 1

11. Of the four possible fates for pyruvate - which ends anaerobic glycolysis as in RBCs - leukocytes - kidney medulla - lens - testes and cornea
Ribos first then deoxyribos with ribonucleotide reductase
Nonsense > missense > silent
Purines= A - G pyrimidine = C - T (U)
Lactate

12. What is the activated carrier for electrons
NADH - NADPH - FADH2
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Carnitine shuttle - acyl - coa from cyto to mito
Result from phagocytic removal of heinz bodies my macs - G6PD def

13. In eukaryotes - What does RNA poly II make
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
MRNA
Lariat shape in order and remove intron precisely and join 2 exons
Fabrys - alpha galactosidase A - ceramide trihexoside - XR

14. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
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
III - joint dislocation - anuerysms - organ rupture
Cleft palate - cardiac abnl - pregs test
Lariat shape in order and remove intron precisely and join 2 exons

15. What is the energy source for tRNA actication (charging)
No
Krabbes - galactocerebrosidase - galactocerebroside - AR
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
ATP

16. Where is hexokinase found - What is its Km and Vmax and what uninduces it
Rb and p53
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Intermediate filaments

17. What does an umabiguous genetic code refer to...
Grows slowly - collapses quickly
40 - 60 - 80
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Each codon specifies only 1 amino acid

18. What is NADPH used for
Anabolic processes as a supply of reducing equivalents
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
B48 - AIV - CII - E
Lariat shape in order and remove intron precisely and join 2 exons

19. What does the golgi add to serine and threonine residues
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
Cri du chat
O- oligosaccharaides
1/4 of offspring from 2 carrier parents are affected - often enzyme def - usually only seen in 1 generation - often more sever than AD - presents in childhood

20. What two cells are particularly rich in RER
Flank pain - hematuria - HTN - progressive renal failure
X- linked recessive
Von gierkes - glucose 6 phosphatase
Mucus secreting globlet cells and antibody secreting plasma cells

21. What converts tyrosine to DOPA
Tryosine hydroxylase
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
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
Sucrose = glucose + fructose - lactose = glucose + galactose

22. What are the reactants for glycolysis
N to C
Degredation of dietary TG in small intestine
Glucose - 2Pi - 2ADP - 2NAD+
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)

23. Where is vit B12 found
Alpha 1 -6 and alpha 1 -4
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
2 -4 DNP - aspirin
Elastase - inhibited by alpha1 antitrypsin

24. What is the breakdown product of epi
Microtubules
Stop codon is recognized by release factor - and completed protein is released from ribosome
NADH - NADPH - FADH2
Metanephrine

25. In what cells do the respiratory burst occur
B48 - AIV - CII - E
Anabolic processes as a supply of reducing equivalents
PMNs
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

26. What are CDKs
Cyclin dependent kinases;constitutive and inactive
UGA - UAA and UAG
Post to neg
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase

27. What is the Hardy Weinberg disease prevalence equation
Elastase - inhibited by alpha1 antitrypsin
Diphyllobothrium latum
Malonyl coa
P2 +2pq+ = 1

28. What makes up a nucleotide

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29. What makes up a nucleoside
One
Base + ribose
Conversion of NE to epi
Eu - methionine - pro - formyl - methionine

30. What is loss of heterozygosity and give an example
Glutamine PRPP amidotransferase
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
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
NAD+

31. what gene is implicated in fragile X syndrome - and What is the mutation
Skin
ATP and alanine
Y shaped region along the DNA template where leading nad lagging strands are synthesized
FMR1 gene - methylation - associated with chromosomal breakage

32. What does DNA poly III do?

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33. What is the TX for pyruvate dehydrogenase deficiency
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
In ER - glucose 6- P to glucose
Alpha1 antitrypsin

34. Which step in the de novo purine and pyrimidine synthesis pathway requires aspartate - glycine - glutamine and THF
Binds 50S - blocking translocation
ATP - citrate
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year
Ribose 5- P to PRPP

35. What defects characterize DiGeorge syndrome
1/4 of offspring from 2 carrier parents are affected - often enzyme def - usually only seen in 1 generation - often more sever than AD - presents in childhood
Thiamine - in thiamine pyrophosphate a cofactor for pyruvate dehydrogenase (glycolysis) - alpha ketoglutarate dehydrogenase (TCA cycle) - transketolase (HMP shunt) - and branched - chain AA dehydrogenase
Thymic - parathyroid and cardiac
APRT + PRPP

36. How does cytosine become uracil
Deamination
Conversion of NE to epi
Base + ribose
Alpha1 antitrypsin

37. What causes biotin def
Antibiotic use or excessive ingestion of raw eggs
Schwann cells - lens - retina - kidneys
Active secretion in lungs and GI - reabsorbs in skin
Dopamine beta hydroxylase

38. What residues are hydroxylated in step 2 of collagen synthesis - and What does this require
Proline and lysine - vit C
Rotenone - CN- - antimycin A - CO
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine

39. What collagen type is most frequently affected in ehlers danlos and What are common complications
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Grows slowly - collapses quickly
III - joint dislocation - anuerysms - organ rupture
Stored ATP - creatine phosphate - anaerobic glycolysis

40. How do stable (quiescent) cells grow and regenerate and What are examples
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Adds 2 carbon with the help of biotin
75 to 90 - cloverleaf
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor

41. recurrent pulmonary infxns in CF are due to what organisms
Pseudomonas and s aureus
Silencers
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Exons

42. What is the hardy weinberg allele prevalence
Disorder of aromatic amino acid metabolism
Schwann cells - lens - retina - kidneys
P+q = 1
CG- 3 > AT-2 - More CG content - melting point goes up

43. Which anti gout drugs work on microtubules
Robertsonian translocation and mosaicism
DsRNA promotes degradation of target mRNA knocking down gene expression
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Colchicine

44. What is the TX for PKU
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet
SnRNPs and other proteins
B48 - AIV - CII - E
CG- 3 > AT-2 - More CG content - melting point goes up

45. What 3 amino acids are necessary for purine synthesis
Glycine - aspartate - glutamine
Inc dicarboxylic acids - dec in glucose and ketones
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Neuralgia

46. What rxn creates ATP
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Alpha 1 -4 glucosidase
GAA
Dermatitis - alopecia - enteritis

47. Adenosine deaminase deficiency is an important cause of what immunodeficiency?
Dec DNA - dec lymphos leads to SCID
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia
Myeloperoxidase
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response

48. What lab technique is use to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments
O- oligosaccharaides
LDL
Malabsorption and steatorrhea (ADEK)
Microarrays

49. 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
Base + ribose + phosphate (3' -5') phosphodiester bond
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Semiconservative - continuous and discontinuous strands (okazaki fragments)

50. In mismatch repair - which strand is recognized and In what hereditary syndrome is this defective
Eu - methionine - pro - formyl - methionine
Unmethylated - newly synthesized - HNPCC
SAM
Removes phosphate group from substrate