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Biochemistry

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1. What does the CFTR channel do in the lungs - GI tract and skin
1 kind with multiple subunits
Active secretion in lungs and GI - reabsorbs in skin
Diphyllobothrium latum
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

2. How many nucTIDEs is a tRNA and What does the secondary sturcture form
75 to 90 - cloverleaf
NF2 on chromosome 22
Adds an inorganic phosphate onto substrate without using ATP
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer

3. What happens to glycogen in the liver
Kwashiorkor - small child with swollen belly
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
Orotate precursor - with PRPP added later
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels

4. What are the symptoms of vit A def
Dec DNA - dec lymphos leads to SCID
Neg to pos
RER - translation of alpha chains - usually Gly-X-Y polypeptide (preprocollagen)
Night blindness - dry skin

5. What are the irreversible enzymes of gluconeogenesis
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Pyruvate carboxylase - PEP carboxykinase - fructose 1 -6 biphosphatase - glucose 6 phosphatase
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
Glycolysis and aerobic respiration

6. What is the trinucleotide repeat in fragile X
CGG
LCAT (lecithin cholesterol acyltransferase)
Alpha1 antitrypsin
Active secretion in lungs and GI - reabsorbs in skin

7. characterize x linked recessive
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
GTP
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

8. What is RNAi used for
DsRNA promotes degradation of target mRNA knocking down gene expression
Catalase positive (catalase neg produce H2O2 the cell can use) like S. aureus or aspergillus
25OHD3
Transmitted through both parents - affected mother may have affected children - affected father will have affected children

9. What converts DOPA to dopamine
Dopa decarboxylase
Change resulting in misreading of all nucleotides downstream - usually resulting in a truncated nonfxnal protein
Transmitted through both parents - affected mother may have affected children - affected father will have affected children
Nature and severity of phenotype vary from 1 individual to another - NF type 1

10. Mediates reverse cholesterol transport from periphery to liver - acts as respository for apoC an apoE - secreted from both liver and small intestine
Pyruvate dehydrogenase - ATP - NADH - acetyl - CoA
HDL
Unmethylated - newly synthesized - HNPCC
Athralgias - fatigue - headaches - skin changes - sore throat - alopecia

11. What is the Name and fxn of vit B12
Cobalamin - cofactor of homocysteine and methyltransferase - methylmalonyl CoA mutase
Orotic acid to UMP
Oxidative and nonoxidative - no ATP produced or used
Hepatic overproduction of VLDL causing pancreatitis - elvelated TGs and VLDL

12. Why can't even chain fatty acids produce new glucose
Not all individuals with a mutant genotype show the mutant phenotype
They yield only acetyl - CoA equivalents
Oxidized hemoglobin precipiated within RBCs
Hartnup disease - dec tryptophan absoprtion - malignant carcinoid syndrome (inc tryptopha metabolism) and INH (dec vit B6)

13. Synthesis of vit B3 requires what other vitamin
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
Wernicke - korsakoff - dry and wet beriberi
Palate - facial and cardiac defects
B6

14. How do tetracyclines work
Carnitine acyltransferase I
DTMP
Bind 30s subunit preventing attachment of aminoacyl - tRNA
FMR1 gene - methylation - associated with chromosomal breakage

15. What are the clinical features of I cell diesase
Coarse facial features - clouded corneas - restricted joint movements - high plasma levels of lysosomal enzymes - often fatal in childhood
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
1- capping on 5' (7- methyguanosine) 2 - polyadenylation on 3' end 3 - splicing out of introns
Acetoacetate and beta hydroxybutyrate

16. What is linkage disequilibrium
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine
SAM
Same as sprint + OXPHOS
Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance - varies is different populations

17. What enzyme converts glucose 1 p to UDP glucose
UDP glucose pyrophosphorylase
Dermatitis - enteritis - alopecia - adrenal insuff
Change resulting in early stop codon
Glucose to G-6P - hexokinase and fructose -6P to fructose 1 -6 BP phosphofructokinase -1

18. What is the activated carrier for 1 carbon units
Adds an inorganic phosphate onto substrate without using ATP
Connective tissue
Inc Cl - in sweat
THFs

19. Describe robertsonian translocation
Cri du chat
Nonreciprocal chromosomal translocation that commonly involves chromosome pairs 13 - 14 - 15 - 21 - 22
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
Cleft palate - cardiac abnl - pregs test

20. Where is glucokinase found - What are the Km and Vmax - and what induces it
For proteins and lipids from ER to plasma membrane - lysosomes and secretory vesicles
Degredation of dietary TG in small intestine
17 - 17 letters in von Recklinghausen
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin

21. How are the many staggered tropocollagen molecules reinforced
Cytosol
Citrate - acetyl coa from mito to cyto
Terminal regions - tropocollagen
Covalent cross - linking by lysyl oxidase to make collagen fibrils

22. peripheral neuropathy of hands/feet - angiokeratomas - CV/renal disease - dz - def enzyme - acc substrate - inherit
PMNs
Phosphorylation - glycosylation - hydroxylation
Two
Fabrys - alpha galactosidase A - ceramide trihexoside - XR

23. What is the defect in cystinuria
Dermatitis - glossitis - and diarrhea
Ketone - methyl
Hereditary defect of renal tubular amino acid transporter for cystein - ornithine - lysine and arginine in PCT
APKD1 on chromosome 16

24. Which antifungal drugs work on microtubules
1 kind with multiple subunits
Glucose -6 phosphate
Pyrophosphate (B1 - thiamine - TPP) FAD (B2 - riboflavin) - NAD (B3 - niacin) - CoA (B5 pantothenate) - lipoic acid
Griseofulvin

25. What is the RDE of cholesterol synthesis
MEN - 2A and 2B with ret gene
Achondroplasia
HMG- CoA reductase
Homocystein in ruine - mental retardation - osteoporosis - tall stature - kyphosis - lens subluxation and atherosclerosis leading to stroke and MI - cysteine

26. What do DNA topoisomerases do
Creat a nick in the helix to relieave supercoils created during replication
Y shaped region along the DNA template where leading nad lagging strands are synthesized
Stored and undergoes glycogenolysis to maintain blood sugar at appropriate levels
Tryosine hydroxylase

27. What is the function of Zinc
CG- 3 > AT-2 - More CG content - melting point goes up
Leu - lys
Essential for the activity of over 100+ enzymes - important in the formatio of zinc fingers -
Free ribosomes

28. Where is acetaldehyde located
Arg and his inc in histones Which bind negatively charged DNA
APKD1 on chromosome 16
2 rings
Mitochondria

29. What happens in carnitine def
B-100 - CII and E
Lactate
Glutamine PRPP amidotransferase
Inability to transport LCFAs into mitochondria results in toxic accumulation causing weakness - hypotonia - hyperketotic hyperglycemia

30. What are the teratogenic effects of vit A and What test must be ordered before starting a woman on isotreitinoin for severe acne
Via 1 proprionyl - CoA which can enter the TCA as succinyl - CoA and undergo gluconeogenesis
Cleft palate - cardiac abnl - pregs test
MRNA - tRNA
Fibroblast

31. What is the function and name of vit B6
TTP
9+2 arrangement of microtubules
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
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive

32. Why does alpha amanitin cause liver failure and Where is it found
Glycolysis and aerobic respiration
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
Activates LCAT
Inhibits RNA polymerase II - found in death cap mushrooms

33. What is the Hardy Weinberg disease prevalence equation
P2 +2pq+ = 1
Neimann - pick - sphingomyelinase - sphingomyelin - AR
Animal products - synthesized only by microorganisms - large reserve pool - mainly in liver
G6PD

34. Delivers dietary TGs to peripheral tissues - delivers cholesterol to liver in the form of remnants - mostly depleted of TGs - secreted by intestinal epith cells
Accelearted muscle breakdown
After citruline
Chylomicrons
VMA

35. In what cell is collagen synthesis initiated
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Fibroblast
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly
Proton gradient

36. What is uniparental disomy
Octamer = 2 sets of H2A - H2B - H3 - H4 - tie =H1
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent
Directly inhibit the Na/K pump which leads to indirect inhibition of Na/Ca exchange - inc calcium inside the cell - inc cardiac contractility
Cre - lox system

37. What is the breakdown product of NE
Removal of N or C termal propeptides from zymogens to generate mature proteins
Stored ATP - creatine phosphate - anaerobic glycolysis
VMA
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses

38. What is the amino acid precuros for niacin and serotonin/melatonin
Modifies N- oligosaccharides
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)
Locus heterogeneity - ocular albinism is x- linked recessive
Tryptophan

39. Where are FADH2 electrons transferred to...
Comlex II
HVA
Glucose - 2Pi - 2ADP - 2NAD+
Makes RNA primer on which DNA poly III can initiate replication

40. Which end of the tRNA is the amino acid bound to...

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41. Where is glucose 6 phosphatase found and What does it do
Karyotyping
GAA
In ER - glucose 6- P to glucose
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

42. What is the composition of urea and where do each part derive from
NH2-(C=O) - NH2 one NH2 from ammonia the C=O from CO2 - and the other NH2 from aspartate
Gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting - synthesized in intestinal flora
Reticulin - skin - blood vessels - uterus - fetal tissue - granulation tissue
Glucose 6 phosphate dehydrogenase (G6PD)

43. What does the golgi add to serine and threonine residues
O- oligosaccharaides
Mental retardation - hyperphagia - obesity - hypogonadism - hypotonia - deletion of normally active paternal allele on chromosome 15
Phenylketones in urine
Tryptophan excretion in urine and dec absorption from the gut leading to pellagra

44. What does vit C def cause
Scurvy - swollen gums - bruising - hemarthrosis - anemia - poor wound healing - weakened immune response
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Reads usual codon but inserts wrong AA
Inc fragility of RBC - hemolytic anemia - muscle weakness - posterior column and spinocerebellar tract demyelination

45. What happens in elongation of protein synthesis

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46. What metabolic rxns occur in the mitochondria
Defect in fibrillin
Proline and glycine (non glycosylated forms)
Fatty acid oxidation - acetyl - Coa production - TCA cycle - OXPHOS
Dermatitis - glossitis - and diarrhea

47. What is axonemal dynein
Ornithin transcarbamoylase def - x linked recesssive - other urea cycle enzymes defs are autosommal recessive
ATPase that links peripheral 9 doublets and causes bending of cilium by differential sliding of doublets
3' end (with CCA)
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def

48. What is the active form of vit D
Differences in phenotype depend on whether the mutation is of maternal or paternal origin - prader - willi and angelman's syndrome
Citrate - acetyl coa from mito to cyto
Y shaped region along the DNA template where leading nad lagging strands are synthesized
1 -25 OH2 D3 = calcitriol

49. What is the activated carrier for Co2
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Biotin
Anabolic processes as a supply of reducing equivalents
Hereditary spherocytosis

50. What two amino acids are required druing periods of growth and why
Arg and his inc in histones Which bind negatively charged DNA
Absence of galactose 1 phosphate uridyltransferase - accumulation of toxic substances leads to failure to thrive - jaundice - hepatomegaly - infantile cataracts - mental retardation
Presence of both nl and mutated mtDNA resulting in mitochondrial inherited disease
RNA poly II

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Biochemistry

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