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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 a phosphatase do
APRT + PRPP
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)
THFs
Removes phosphate group from substrate

2. bilateral - massive enlargement of of kidneys due to multiple large cysts
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
Rb and p53
ADPKD
Neural tube

3. In eukaryotes - What does RNA poly II make
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
MRNA
APC on chromosome 5
RER

4. 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
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
FISH
Comlex II
CAG

5. Which bond is stronger AT or CG and why? What is the laboratory consequence of this?
ATP - citrate
Glycolysis - fatty acid synthesis - HMP shunt - protein synthesis (RER) - steroid synthesis (SER)
ATP hyrdolysis couple to energetically unfavorable rxns
CG- 3 > AT-2 - More CG content - melting point goes up

6. What tissues have both enzymes of sorbitol metabolism
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Males are infertile due to bilateral absence of vas deferens
Glucose 6 phosphatase
Liver - ovaries - seminal vesicles

7. How do labile celss grow and regenerate and What are examples
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles
Alpha - ketoglutarate dehydrogenase complex
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Mutated dystrophin gene - less severe - adolescence

8. What enzyme converts adenine to AMP
Proline and lysine - vit C
APRT + PRPP
Inc melt - dec fluidity
Degredation of TG circulating in chylomicrons and VLDLs

9. What is codominance and give an example
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Heterochromatin = HighlyCondensed
Neither of 2 alleles is dominant - blood groups
Base + ribose

10. Leysh - Nyhan syndrome is a defect in which enzyme and What are the biochemical results
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
Bone - skin - tendon - dentin - fascia - cornea - late wound repair
HGPRT - defective purine salvage - excess uric acid production
Dec phenylalanine (contained in aspartame - Nutrasweet) inc tyrosine in diet

11. What does the passage of electrons result in that when coupled to OXPHOS drives the production of ATP
Proton gradient
Phosphofructokinase 1
Infection - free radicals generated by inflammatory response
3 NADH - 1 FADH2 - 2 CO2 - 1 GTP = 12 ATP (x2 per glucose)

12. What are possilbe presentation for galactokinase def
Only processed RNA
RNA poly II
Tuberous sclerosis
Failure to track objects or develop a social smile

13. What converts NE to epi
Exons
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Debranching enzyme
Phenylethamolamine N methyl transferase

14. caf
Neurofibromatosis type 1 (von Recklinghausens disease)
SNP
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Glycogen phosphorylase

15. What are the two possible causes of albinism
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Removal of N or C termal propeptides from zymogens to generate mature proteins
Huntingtons
Oligomycin

16. What does biotin def cause
The triphosphate bond
Dermatitis - alopecia - enteritis
DNA
TTP

17. How do aminoglycosides work
By inhibiting formation of the initiation complex and cause misreading of mRNA
Unwinds DNA template at replcation fork
4 under the floor
DNA

18. What does Adenosine deaminase deficiency cause a build up of - and What does that lead to?
Marfans
Glutamate
Glycine - aspartate - glutamine
Excess ATP - dATP - feeback inhibits ribonucleotide reductase - no DNA synthesis

19. What are the reactants for glycolysis
Glucose - 2Pi - 2ADP - 2NAD+
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Ribulose 5P to ribose 5P - G3P and F6P - transketolase and B1
Kwashiorkor - small child with swollen belly

20. What is the defectin IV - hypertriglyceridemia
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints
Paclitaxel

21. What is the most abundant type of RNA
Comlex II
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
RRNA
Cre - lox system

22. What chromosome is the NF gene on...
Von Gierke's - Pompe - Cori - McArdle
Heterochromatin = HighlyCondensed
17 - 17 letters in von Recklinghausen
Neg to pos

23. What is NADPH used for
DTMP
Anabolic processes as a supply of reducing equivalents
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
Oxidative is irreversible

24. What bone disorder has x linked dominant inheritance
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor
Tryptophan
SnRNPs
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation

25. What are the findings in Down's syndrome
Evident in first few days of life - can present last onest - excess carbamoyl phosphate converted to orotic acid - orotic acid in blood and urine - dec BUN and symptoms of hyerpammonemia
No
Read from a fixed starting point as a continuous sequence of bases
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

26. 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
Regulatory proteins that control cell cycle events; phase specific; activate CDKs
TTP
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

27. Wgat substances directly inhibit mitochondrial ATPase - causing an inc in proton gradient - no ATP because pump is stopped
Huntingtons
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
Degradation of TG remaining in IDL
Oligomycin

28. What can excess vit B3 cause
Facial flushing
Tryptophan
Dopa decarboxylase
Diphyllobothrium latum

29. What makes up a nucleotide

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30. Type III collagen
Oxidizes substrate
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
SNP
Night blindness - dry skin

31. What are the fat soluble vitamins and What does their absorption depend on...
Activates LCAT
ATP and alanine
ADEK - dependent on gut (ileum) and pancreas - accumulate in fat and can cause toxicity
No mutation occuring at the locus - no selection for any genotypes at the locus - completely random mating - no migration

32. What does primase do
P+q = 1
Vincritsine/vinblastine
Myeloperoxidase
Makes RNA primer on which DNA poly III can initiate replication

33. What does vit B3 def result in
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
Zero
Adds 2 carbon with the help of biotin

34. peripheral neuropathy - developmental delay - optic atrophy - glopoid cells
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Inherited lysosomal storage disorder; failure of addition of mannose 6 phosphate to lysosomal proteins - enzymes secreted outside of cell instead of lysosomes
Krabbes - galactocerebrosidase - galactocerebroside - AR
75 to 90 - cloverleaf

35. What are bite cells and when do you see them
Consesus sequenec of base pairs
Result from phagocytic removal of heinz bodies my macs - G6PD def
Site of steroid synthesis and detoxification of drugs and poisons
25OHD3

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

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37. Where is glucose 6 phosphatase found and What does it do
Fasting
ATP
In ER - glucose 6- P to glucose
Lactate

38. In eukaryotes - What does RNA poly III make
Only processed RNA
TRNA
Sucrose = glucose + fructose - lactose = glucose + galactose
Oligomycin

39. 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
SAM
Liver - also in kidney and gut epithelium
Miscarriage - stillbirth - chromosomal imbalance (down - patau)
Nucleotide excision repair - xeroderma pigmentosum; unable to repair thymidine dimers caused by UV light

40. What is a frame shift
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Kidney - ears - eyes
Removes phosphate group from substrate
Antioxidant - protects RBCs and membrances from free radical damage

41. What is the treatment for cystathionine synthase def
Change resulting in early stop codon
Krabbes - galactocerebrosidase - galactocerebroside - AR
Dec methionine - inc cystiene - inc B12/folate
Riboflavin - cofactor in oxidation and reduction (FAD and FMN are derived from riboflavin)

42. What tissues have only aldose reductase
Liver and leafy veggies
Terminal regions - tropocollagen
Schwann cells - lens - retina - kidneys
Nissl body - enzyme and NTs

43. What does a kinase do
Alpha 1 -4 glucosidase
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
VLDL
Uses ATP to add high energy phophate group onto substrate

44. Which direction does kinesin go
Adenosine to inosine
Glycolysis and the glycogen synthesis in the liver - hexokinase or glucokinase
Protein
Neg to pos

45. Broadly - What can cause fat - soluble vitamin deficiencies
Malapsorption syndromes like sprue or CF or mineral oil intake
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Arg - lys - his - arg is most basic - has has no charge at body pH
BOne

46. What does high cholesterol or long saturated fatty acid content do to the melting temperature and fluidity
Phosphorylation - glycosylation - hydroxylation
Von gierkes - glucose 6 phosphatase
Inc melt - dec fluidity
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond

47. What does DNA ligase do
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Neural tube
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Seals.

48. What are the two transgenic strategies in mice
PMNs
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
African Americans and Asians
SNP

49. What is a nonsense mutation
Chronic granulomatous disease - no respiatory burst - no formatino of ROS
3' end (with CCA)
L form
Change resulting in early stop codon

50. What activates the pyruvate dehydrogenase complex
Exercise: inc NAD/NADH - inc ADP - inc Ca
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
Four
Neurons