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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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This is a study tool. The 3 wrong answers for each question are randomly chosen from answers to other questions. So, you might find at times the answers obvious, but you will see it re-enforces your understanding as you take the test each time.

1. What is made fir rNucleotides or deoxyrNucleotides and what enzyme is necessary to convert one to the next
Stored ATP - creatine phosphate - anaerobic glycolysis
Adds an inorganic phosphate onto substrate without using ATP
Ribos first then deoxyribos with ribonucleotide reductase
Nonsense > missense > silent

2. What tissues have only aldose reductase
B100
Schwann cells - lens - retina - kidneys
The triphosphate bond
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns

3. How many rings do purines have
Wobble
2 rings
Hypercalciuria - loss of appetite - stupor - seen in sarcoidosis from activation fo vit D by epithelioid macrophage
Unwinds DNA template at replcation fork

4. What are possilbe presentation for galactokinase def
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Alanine
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Failure to track objects or develop a social smile

5. CF - is AR deletion In what gene On what chromosome resulting in a deletion inf what?
Constitutive - random insertion of gene into mouse genome and conditional - targeted insertion or deletion of gene through homologous recombination with mouse gene
ATP and methionine
Actin and myosin
CFTR gene - 7 - Phe 508

6. An inability to convert orotic acid to UMP would be caused by a deficiency either of which two enzymes

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7. What CETP do
Inc Cl - in sweat
Medial dorsal nucleus of thalamus - mamillary bodies
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons

8. What 3 steps in RNA processing occur after transcription

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9. What bone disorder has x linked dominant inheritance
Fasting
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Antioxidant - constituent of visual pigment - essential for nl differntiation of epithelial cells into specialized tissue (pancreatic cells - mucus secreting cells) used to treat measles
Hypophophatemia rickets - vit D resistant ricketts - inc wasting of phosphate in proximal tubule - rickets like presentation

10. Gene imprinting implies that How many alleles are active at a single locus
Acetyl - CoA
One
VMA
Faulty collagen synthesis - hyperextensible skin - tendency to bleed - easy bruising - hypermobile joints

11. What does PURe As Gold and CUT The Py stand for
Mental retardation - seizures - ataxia - inappropriate laughter - deletion of normally active maternal allele
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
Protein kinase A
Purines= A - G pyrimidine = C - T (U)

12. What does inc phenylalanine lead to...
Liver and leafy veggies
Phenylketones in urine
Lack of tyrosinase (no melanin) AR ordefective tyrosine transporters (less tyrosine) - can results in lack of migration of NC cells
Intermediate filaments

13. Where are the secretory proteins made and N- linked oligosaccharide addtions put on proteins
Removes phosphate group from substrate
Kwashiorkor - small child with swollen belly
RER
32 - malate aspartate shuttle

14. What two pathways is carbomoyl phosphate involved in - and what enzyme deficiency leads to a build of carbamoyl phosphate leading to what element in pyrimidine synthesis
Deamination
De novo pyrimidine synthesis and urea - ornithine transcarbamoyl def in the urea cycle leads to a build of CP - then converted to orotic acid in pyrimidine synthesis pathway
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra
Glycogen phosphorylase

15. What happens to glycogen in the liver
Facial flushing
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
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

16. What defects characterize velocardiofacial syndrome
Palate - facial and cardiac defects
Prevent strands from reannealing
Glycine
Wrinkles and acne

17. Which type of chromatin is less condensed - transcriptionally active - sterically accesible
Euchromatin
CG- 3 > AT-2 - More CG content - melting point goes up
Arginine
Adenylyl cycle - inc cAMP - inc PKA - glycogen phosphorylase kinase activated - glycogen phosphoylase active - glycolysis

18. cytoskeletal elements associated with vimenentin - desmin - cytokeratin - glial fibrillary acid protiens (GFAP) - neurofilaments
Intermediate filaments
NADPH
Pseudomonas and s aureus
Hypoxanthine to xanthing and xanthine to uric acid

19. What are the findings in orotic aciduria
Inc orotic acid in urine - megaloblastic anemia (does not correct with B12 or folate) - failure to thrive
Fibrofatty replacement of muscle - cardiac myopathy
SnRNPs and other proteins
CGG

20. What enzyme converts glucose 1 p to UDP glucose
P+q = 1
Mutated dystrophin gene - less severe - adolescence
Ca/calmodulin in muscle to coordinate with muscle activity
UDP glucose pyrophosphorylase

21. What is the breakdown product of dopamine
Neuralgia
Poly A polymerase - signal is AAUAA
HVA
Converted to THF - a coenzyme for one - carbon transfer/methylation reactions - important for synthesis of nitrogenous bases in DNA and RNA

22. Type II collagen
Inhibits acetaldehyde dehydrogenase and contributes to hangover symptoms
Kwashiorkor - small child with swollen belly
Cartilage - hyaline - vitreous body - nucleus pulposus
Eu - methionine - pro - formyl - methionine

23. How does insulin inhibit glycogenolysis
Chylomicrons
Dec DNA - dec lymphos leads to SCID
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it

24. What does a northern blot use as its sample
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate
RNA
Actin and myosin
Production of a recombinant DNA molecule that is self perpetuating - plasmids - selection - restriction enzyme cleavage - tissue mRNA with reverse transcriptase to make cDNA

25. What is the RDE of TCA cycle
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
SnRNPs
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
Isocitrate dehydrogenase

26. Which kind of osteogenesis imperfecta is fata in utero or in neonatal period
Active secretion in lungs and GI - reabsorbs in skin
N- acteylcysteine - cleave disulfide bonds within mucus glycoproteins
Type II
Metanephrine

27. In mismatch repair - which strand is recognized and In what hereditary syndrome is this defective
CTG
Muscle
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects
Unmethylated - newly synthesized - HNPCC

28. delivers hepatic TGs to peripheral tissue - secreted by liver
VLDL
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Changed AA (convservative - new AA is similar in chemical structure)

29. What does the start codon code for in eukaryotes and prokaryotes
Free ribosomes
Eu - methionine - pro - formyl - methionine
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)
Cre - lox system

30. What does lactase deficiency cause
Tryptophan
Wobble
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Avidin

31. What are the names and sources of the two types of vit D found in nature
Glycine
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Orotate precursor - with PRPP added later
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid

32. What are the clinical features of I cell diesase
Defect in fibrillin
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Lack of proper dietary therapy during pregnancy leading to microcephaly - mental retardation growth retardation - congenital heart defects
Malapsorption syndromes like sprue or CF or mineral oil intake

33. What does the mutation in the gene cause in protein synthesis
Abnormal protein folding - degradation before reaching cell surface
RRNA
Attachment of ubiquitin to defective proteins tag them for breakdown
Genetic code is conserved throughout evolution - except for mito - archaebacteria - mycoplasma - and some yeast

34. How many ATP are created by aerobic metabolism of glucose in the heart and liver via what shuttle
Carnitine acyltransferase I
HMG- CoA (HMG- CoA to mevalonate
Epithelial cells
32 - malate aspartate shuttle

35. How do labile celss grow and regenerate and What are examples
Mebendazole/thiabendazole
Mental retardation - macro - orchidism - long face with large jaw - large everted ears - autism - and mitral valve prolapse
DNA
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

36. What is the pathway in the fasting state leading to inc FBPase -2 and dec PFK-2
Inc glucagon - inc cAMP - inc PKA
In mitochondria - pyruvate to oxaloacetate - requires biotin - ATP - activated by acetyl coA
HGPRT - defective purine salvage - excess uric acid production
Aberrant 3rd and 4th branchial arches causing 22q11 deletion - cleft palate - abnl facies - thymic dysplasia - cardiac defects - hypocalcemia secondary to parathyroid aplasia

37. What feedback inhibits hexokinase
Glucose -6 phosphate
Depletes alpha - ketoglutarate leading to inhibition of TCA cycle - tremor slurring of speech - somnolence - vomiting - cerebral edema - blurring of vision
Ubiquitous - low Km - high affinity - low capacity low Vmax - uninduced by insulin
Glycogen synthase

38. What are the fetal screening measures for Down
Schwann cells - lens - retina - kidneys
Dec AFP - inc betahCGH - dec estradiol - inc inhibin - inc nuchal translucency on US
Pyruvate - NAD+ - CoA
Chronic granulomatous disease - no respiatory burst - no formatino of ROS

39. What is the defectin IV - hypertriglyceridemia
Arg - lys - his - arg is most basic - has has no charge at body pH
Flagella - cilia - mitotic spindles
Protein kinase A
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL

40. What leads to the deletion of the dystrophin gene in duchenne's muscular dystrophy
Cytosol - F 1 -6 BP to fructose 6 Phosphate
X linked frame shif mutation
BOne
Exons

41. What 3 syndromes are associated with vit B1 def
Wernicke - korsakoff - dry and wet beriberi
ATP
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
CAG - 4

42. what disease can cause pellagra
Lactate
5' to 3'
LPL def - or altered apoCII - elevated TG and cholesterol - causes pancreatitis - hepatosplenomegaly and eruptive/pruritic xannthomas - no risk of atherosclerosis
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)

43. What is the most common urea cycle disorder and What is the mode of inheritance?
Mitochondria
Stored ATP - creatine phosphate - anaerobic glycolysis
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
Metachromatic leukodystrophy - arylsulfatase A - cerebroside sulfate AR

44. What happens at the smooth ER
Immotile cilia due to dynein arm defect - male and femail infertile - bronchiectasis - recurrent sinusitis - associated with situs inversus
Site of steroid synthesis and detoxification of drugs and poisons
Fructose via sorbitol dehydrogenase - inc sorbitol leading to osmotic damage as in cataracts - retinopathy - peripheral neuropathy as in diabetes
African Americans and Asians

45. What are the water soluble vitamins - which ones are stored
CGG
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia
B(1 - 2 - 3 - 5 - 6 - 12) C - biotin and folate (B12 and folate are stored)

46. facial lesions - hypopigmented 'ash leaf spots -' cortical and retinal hamartomas - seizures - mental retardation - renal cysts - renal angiomyolipomas - cardiac rhabdomyomas - inc risk of astrocytomas
Cori's - debranching enzyme alpha 1 -6 glucosidase - gluconeogenesis intact
Tuberous sclerosis
Antioxidant - protects RBCs and membrances from free radical damage
Post to neg

47. How does patients present with ADPKD
Anchor muscle fibers - primarily in skeletal and cardiac muscle
Flank pain - hematuria - HTN - progressive renal failure
Alcohol version of glucose - can trap glucose in cell - aldose reductase
Paclitaxel

48. What catacholamine step is SAM required for
GAA
P2 +2pq+ = 1
Conversion of NE to epi
Anabolic processes as a supply of reducing equivalents

49. Of the four possible fates for pyruvate - which one carries amino groups to liver from muscle
Impaired glucose breakdown leading to ATP depletion; highly affected aerobic tissues like brain and heart affected first
Alanine
Glycine - aspartate - glutamine
Antigen - antibody reactivity - can look for antigen or antibody in patients blood

50. What is NADPH's role inside RBCs
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea
Keep glutathione reduced so it can detoxify free radicals and peroxides
Defect in fibrillin
Infection - free radicals generated by inflammatory response