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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 covalent alterations
By inhibiting formation of the initiation complex and cause misreading of mRNA
Prevent strands from reannealing
Cre - lox system
Phosphorylation - glycosylation - hydroxylation

2. What is the energy source after day 3 of starvation
Lactate
Acetly- CoA - CO2 - NADH
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
Arginine

3. What are the mRNA stop codons
Dopamine beta hydroxylase
UGA - UAA and UAG
Acetyl - CoA
Adenosine to inosine

4. What is the defect in cystinuria
Biotin
Seals.
Ribose 5- P to PRPP
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT

5. What is DNA cloning and How do you do it?
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Biotin

6. What does lipoprotein lipase do
Degredation of TG circulating in chylomicrons and VLDLs
Catabolic processes to carry reducing equivalents away as NADH
Inhibits 50S peptidyltransferase
Liver and leafy veggies

7. What does arsenic do and What are th results of poisoning
Ketone - methyl
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
HMG- CoA reductase

8. Which RNA poly opens DNA at promotor site
Tuberous sclerosis
1 kind with multiple subunits
RNA poly II
B48 - AIV - CII - E

9. What does Alports syndrome cause and why
Cre - lox system
Binds to LDL receptor - mediates VLDL secretion
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
LCAT (lecithin cholesterol acyltransferase)

10. What is codominance and give an example
Epithelial cells
Protein kinase A
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
Neither of 2 alleles is dominant - blood groups

11. What is the activated carrier for Acyl
Coenzyme A - lipoamide
Not all individuals with a mutant genotype show the mutant phenotype
Oxidative and nonoxidative - no ATP produced or used
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty

12. In prokaryotes - What does makes the different types of RNA
Pyroxidine - converted to pyroxidine phosphate a cofactor used in transamination - decarboxylation - glycogen phosphorylase - cystathionine synthesis and heme synthesis - required for synthesis of niacin and tryptophan
1 kind with multiple subunits
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Actin and myosin

13. How does cytosine become uracil
B100
Deamination
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
DsRNA promotes degradation of target mRNA knocking down gene expression

14. Synthesis of vit B3 requires what other vitamin
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
B6
Scrutinizes - hydrolyzes the bond
Mcardle's - skeletal muscle glycogen posphorylase

15. characterize autosomal domint inheritance
Oxalacetate
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
Alpha - ketoglutarate dehydrogenase complex
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty

16. What does biotin def cause
Dermatitis - alopecia - enteritis
Glucose 6P to CO2 - 2NADPH - ribulose 5P - G6PD - rate limiting step
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
RER

17. Wgat substances directly inhibit mitochondrial ATPase - causing an inc in proton gradient - no ATP because pump is stopped
Orotate precursor - with PRPP added later
RRNA
Disorder of aromatic amino acid metabolism
Oligomycin

18. What rxn does propionyl - CoA carboxylase catalyze
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Oligomycin
Glucose -6 phosphate
B100 and E

19. NADPH are used In what 4 things
P2 +2pq+ = 1
Anabolic processes like steroid and fatty acid synthesis - respiratory burst - P-450 - glutathione reductase
Orotate precursor - with PRPP added later
Basement membrane or basal lamina

20. 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
Cartilage - hyaline - vitreous body - nucleus pulposus
Mediates chylomicron secretion
FISH
Type II

21. In eukaryotes - What does RNA poly II make
ATP hyrdolysis couple to energetically unfavorable rxns
Mutations at different loci can produce the same phenotype - marfans - MEN 2B - homocystinuria; all cause marfinoid habitus - also albinism
32 - malate aspartate shuttle
MRNA

22. What causes biotin def
RRNA
Protective against malaria
Alkaptonuria - may have debiliating arthralgias
Antibiotic use or excessive ingestion of raw eggs

23. What is the Name and function of vit B2
Carbomoyl phosphate synthetase I
Defect in fibrillin
Histidine
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

24. What does aminoacyl tRNA synthetase do the AA before and after it binds to tRNA - and what happens if it's the wrong the match
5' of the incoming nucleotide
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Scrutinizes - hydrolyzes the bond

25. What happens in elongation of protein synthesis

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26. What is the energy source for translocation
Marasmus - muscle wasting
High output cardiac failure - dilated cardiomyopathy - edema
GTP
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)

27. Acetyl - CoA carboxylase catalyzes what rxn
GTP
Acetyl - CoA to malonyl - CoA (2C to 3C)
Malonyl coa
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais

28. What is the exception to genetic redundancy
Methionine encode by only 1 codon (AUG)
Isocitrate dehydrogenase
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
Liver hepatocytes and steroid producing cells of the adrenal cortex

29. What regulates whether FBPase -2 or PFK-2 is active
SNP
Protein kinase A
Cre - lox system
DNA

30. Which enzyme involved in RNA synthesis does not require a template
Creat a nick in the helix to relieave supercoils created during replication
GAA
EtOH dehydrogenase and acetaldehyde dehydrogenase
Poly A polymerase - signal is AAUAA

31. Do balanced translocations cause abnl phenotype
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
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
No

32. What does the ELISA test for
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA
Antigen - antibody reactivity - can look for antigen or antibody in patients blood
Fibrofatty replacement of muscle - cardiac myopathy
Binds 50S - blocking translocation

33. What does vit C def cause
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
DsRNA promotes degradation of target mRNA knocking down gene expression
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Glucose 6 phosphatase

34. In mismatch repair - which strand is recognized and In what hereditary syndrome is this defective
Carbomoyl phosphate synthetase I
Unmethylated - newly synthesized - HNPCC
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
B100

35. What drugs can cause folate def
Phenytoin - MTX - and sulfonamides
Orotic acid phosphoribosyltransferase or orotidine 5'- phosphate decarboxylase
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
Cri du chat

36. What shuttle is involved in fatty acid synthesis and What does it move From where to where
Disease
Removes phosphate group from substrate
Citrate - acetyl coa from mito to cyto
Confusion - opthalmoplegia - ataxia - confabulation - personality changes and memory loss

37. Where are cytosolic and organellar proteins made
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Hypoxanthine to xanthing and xanthine to uric acid
Adds 2 carbon with the help of biotin
Free ribosomes

38. in a 100 meter sprint Where does energy come from
Elastase - inhibited by alpha1 antitrypsin
Adds 2 carbon with the help of biotin
Stored ATP - creatine phosphate - anaerobic glycolysis
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL

39. pyruvate carboxylase catalyzes what rxn
Histidine
Pyruvate to oxaloacetate (3C to 4C)
Inc melt - dec fluidity
Transmitted through both parents - affected mother may have affected children - affected father will have affected children

40. Delivers dietary TGs to peripheral tissues - delivers cholesterol to liver in the form of remnants - mostly depleted of TGs - secreted by intestinal epith cells
Rb and p53
Chylomicrons
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Epithelial cells

41. peripheral neuropathy of hands/feet - angiokeratomas - CV/renal disease - dz - def enzyme - acc substrate - inherit
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
Targets the proteins for lysosome
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Core proteins

42. Why enzyme breaks down elastin and what enzyme inhibits it
Elastase - inhibited by alpha1 antitrypsin
Vit K antagonist
OTC has hyperammonemia - orotic aciduira does not
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive

43. 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
Alpha - ketoglutarate dehydrogenase complex
Williams syndrome
Fabrys - alpha galactosidase A - ceramide trihexoside - XR
Acetoacetate and beta hydroxybutyrate

44. What is the smallest mutation a mircoarray can detect
Lysine and leucine
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia
SNP
Anchor muscle fibers - primarily in skeletal and cardiac muscle

45. How doe NADH electrons from glycolysis and the TCA cycle enter the mitochondiria
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Avidin
Malate - aspartate shuttle or the glycerol 3 phosphate shuttle
Abnormal protein folding - degradation before reaching cell surface

46. Which anti breast cancer drugs work on micortubules
Cartilage - hyaline - vitreous body - nucleus pulposus
ATP and alanine
Paclitaxel
Wobble

47. What does a decrease in decrease in NADPH lead to and why
Poor defense from oxidizing agents - fava beans - sulfonamides - primaquine - antituberclosis drugs leadig to hemolytic anemia.
25OHD3
Blood - bone marrown - amniotic fluid - placental tissue
CGG

48. What metabolic rxns occur in the cytoplasm
Ribos first then deoxyribos with ribonucleotide reductase
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
Glutamine PRPP amidotransferase
Y shaped region along the DNA template where leading nad lagging strands are synthesized

49. What shuttle is used in fatty acid degredation and What does it move and From where to where
EtOH dehydrogenase and acetaldehyde dehydrogenase
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
Carnitine shuttle - acyl - coa from cyto to mito
More than 1 codon may code for the same amino acid

50. How do labile celss grow and regenerate and What are examples
Degradation of TG stored in adipocytes
Glycolysis and aerobic respiration
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
4 under the floor