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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 does primase do
Karyotyping
Excess NADH shunts oxaloacetate to malate (backwards) stalling the TCA and shunting glucose and FFA to ketone body production
Makes RNA primer on which DNA poly III can initiate replication
PCR - denaturation - annealing - elongation

2. What is the most abundant type of RNA
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Familial hypercholesterolemia - hyperlipidemia type IIA
RRNA
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two

3. What is the amino acid precursor for porphyrin and heme
THFs
Inhibits the Na/K pump by binding the K side
Glycine
Phenylethamolamine N methyl transferase

4. What liberates glucose from glucose 6 P
Oxidative is irreversible
Glucose 6 phosphatase
Conversion of NE to epi
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA

5. several distinct syndromes characterized by familial tumors of endocrine glands including pancreas - parathyroid - pituitary - thryoid and adrenal medulla - disorders and gene association
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Glucose 6 phosphate dehydrogenase (G6PD)
Breaks down acyl - coa to acetyl coa groups in mito
MEN - 2A and 2B with ret gene

6. What inhibits the carnitine shuttle
Malonyl coa
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Coenzyme A - lipoamide
Sucrose = glucose + fructose - lactose = glucose + galactose

7. What is the defectin IV - hypertriglyceridemia
Malonyl coa (+ biotin= palmitiate - 1 16C fatty acid)
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Changed AA (convservative - new AA is similar in chemical structure)
Inc vit B6

8. What is the TX for hyper ammonemia
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
SnRNPs
O- oligosaccharaides
Cytosol - F 1 -6 BP to fructose 6 Phosphate

9. What trinucleotide repeat in Huntingtons and what chromosome is it found on...
CAG
CAG - 4
Neurofibromatosis type 1 (von Recklinghausens disease)
Palate - facial and cardiac defects

10. What is Retin A used topically for
Wrinkles and acne
Mental retardation - growth retardation - seizures - fair skin - eczema - musty body odor
Accelearted muscle breakdown
B100

11. What does Alports syndrome cause and why
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Conversion of NE to epi
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
Superoxide dismutase

12. What is the RDE of glycogenolysis
Essential fructosuria - fructokinase AR
Glycogen phosphorylase
Mucus secreting globlet cells and antibody secreting plasma cells
Robertsonian translocation and mosaicism

13. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
Inc glucagon - inc cAMP - inc PKA
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Common metabolites like pyruvate and acetyl CoA and excess NH4+ converted to urea and exreted
Transmitted through both parents - affected mother may have affected children - affected father will have affected children

14. Formed and degradation of VLDL - delivers TGs and cholesterol to liver where they are degraded to LDL
Orotic acid to UMP
Reads usual codon but inserts wrong AA
Abnormal protein folding - degradation before reaching cell surface
IDL

15. Where is acetaldehyde located
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Mucus secreting globlet cells and antibody secreting plasma cells
Mitochondria
4 under the floor

16. cell signaling defect of fibroblast growth factor (FGF) receptor 3 - results in dwarfism - short limbs - head/trunk nl size - associated with advanced paternal age
II - VII - IX - X (1972) protein C and S
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Inc glucagon - inc cAMP - inc PKA
Achondroplasia

17. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
Ribos first then deoxyribos with ribonucleotide reductase
Epithelial cells
Prokaryotic only - elongates leading strand by adding deoxnucTIDE to the 3' end. Elongates lagging strand until it reaches primer of preceeding fragment. 3' to 5' exonuclease activity 'proofreads' each added nucTIDE
Protein

18. Why is G6PD def more common among patients of african decent
Phosphenolpyruvate to pyruvate catalyzed by pyruvate kinase
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Base + ribose + phosphate (3' -5') phosphodiester bond
Protective against malaria

19. Name as many x- linked recessive disorders as you can

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20. What substance accumulates in galactokinase def and What is the clinical picture
Galactitol - galactose appears in blood and urine - can cause infantile cataracta - AR
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Breaks down acyl - coa to acetyl coa groups in mito

21. What does universal genetic code refer to and What are some exception
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
No
Carnitine acyltransferase I

22. What does DNA poly III do?

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23. What is the fxn of vit E
Antioxidant - protects RBCs and membrances from free radical damage
Cartilage - hyaline - vitreous body - nucleus pulposus
Core proteins
Neuralgia

24. What enzyme does fructose metabolism bypass to reach glycolysis
Conversion of NE to epi
FISH
Dermatitis - alopecia - enteritis
PFK - rate limiting enzyme

25. What is the breakdown product of epi
Foliage - small reserve in liver - eat green leaves
Metanephrine
High output cardiac failure - dilated cardiomyopathy - edema
Oral uridine administration

26. 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
NADPH
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations
II - VII - IX - X (1972) protein C and S

27. nucleotide repeat for fragile x
Malapsorption syndromes like sprue or CF or mineral oil intake
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
CGG
The triphosphate bond

28. What is the Hardy Weinberg disease prevalence equation
Rotenone - CN- - antimycin A - CO
Fructose 1 -6 bisphosphate
P2 +2pq+ = 1
Von hippel lindau - 3

29. In which single strand DNA repair mechanism do specific endonucleases release the oligonucTIDE containing bases and DNA poly and ligase fill and reseal - and what disease occures when this is mutated
Leu - lys
Arginine
Abnormal protein folding - degradation before reaching cell surface
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light

30. Gene imprinting implies that How many alleles are active at a single locus
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Arg and his inc in histones Which bind negatively charged DNA
One

31. Type II cartilage
Polyneuritis - symmetrical muscle wasting
Four
CarTWOlage
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage

32. protein malnutrition resulting in skin lesions - edema and liver malfxn
Dermatitis - alopecia - enteritis
Kwashiorkor - small child with swollen belly
Abnormal protein folding - degradation before reaching cell surface
Miscarriage - stillbirth - chromosomal imbalance (down - patau)

33. What tissues have both enzymes of sorbitol metabolism
APC on chromosome 5
CG- 3 > AT-2 - More CG content - melting point goes up
Liver - ovaries - seminal vesicles
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

34. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Mebendazole/thiabendazole
Actin and myosin
III - joint dislocation - anuerysms - organ rupture
Proton gradient

35. What is the source of energy in the fasting state between meals
African Americans and Asians
Enter G1 from G0 when stimulated - hepatocytes and lymphocytes
Hepatic glycogenolysis >> hepatic gluconeogenesis > adipose release of FFA
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two

36. What is the defect in I- hyperchylomicronemia
AR
Heme synthesis - urea cycle and gluconeogenesis - HUGs take two
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
1 kind with multiple subunits

37. In what cells do the respiratory burst occur
Keep glutathione reduced so it can detoxify free radicals and peroxides
Active secretion in lungs and GI - reabsorbs in skin
PMNs
Fibroblast

38. what findings are associated with marfans
Ile - phe - thr - trp
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
Poly A polymerase - signal is AAUAA
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly

39. What part of the pre mRNA contains the actual genetic information coding for protein
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
ATP - citrate
Alpha - ketoglutarate dehydrogenase complex
Exons

40. How does ouabain work
Thymic - parathyroid and cardiac
Inhibits the Na/K pump by binding the K side
Schilling test
B100 and E

41. Type I collagen
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
Familial hypercholesterolemia - hyperlipidemia type IIA
HDL

42. Describe the structure of cilia
Mediates extra remnant take up
Bind 30s subunit preventing attachment of aminoacyl - tRNA
Disorder of aromatic amino acid metabolism
9+2 arrangement of microtubules

43. In eukaryotes - What does RNA poly I make
Secretion of abnl thick mucus that plugs lungs - pancreas - liver
Only processed RNA
RRNA
Inc melt - dec fluidity

44. What makes up a nucleotide

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45. What is the Name and function of vit B2
Q -
Alpha - ketoglutarate dehydrogenase complex
Infection - free radicals generated by inflammatory response
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

46. What are the glucogenic essential amino acids
Foliage - small reserve in liver - eat green leaves
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
Met - val - arg his
Facial flushing

47. What enzymes metabolize fatty acids and amino acids
Hurlers syndrome - alpha L iduronidase - heparan sulfate/dermatan sulfate - AR
Acetoacetate and beta hydroxybutyrate
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
VLDL

48. What happens on the nonoxidative arm of the HMP shunt and What is the key enzyme and cofactor
Provide a source of NADPH from an abundantly available glucose 6P - create ribose for nucleotide synthesis and glycolytic intermediates
Wrinkles and acne
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS

49. What is axonemal dynein
Familial hypercholesterolemia - hyperlipidemia type IIA
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia

50. In prokaryotes - What does makes the different types of RNA
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
1 kind with multiple subunits
FISH