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57 Cards in this Set
- Front
- Back
Musty Odor
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PKU
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Dark Urine when standing
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Alkaptonuria
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intense muscle cramps, pain after excercise
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McArdle's (Typle IV glycogen storage Dx-- muscle, can't break glycogen down)
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mineral oil and fat soluable vitamins
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mineral oil can cause fat abs syndromes
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Vitamin B1
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Thiamine (TPP)
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Vitamin B2
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Riboflavin (FAD)
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Vitamin B3
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Niacin (NAD)
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Vitamin B5
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Pantothenate (CoA)
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Vitamin B6
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Pyridoxine (PP)
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Vitamin B1 and the HMP Shunt
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Vitamin B1 is a cofactor for oxidative decarboxylations of alpha-KG's; cofactor for HMP shunt
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Dry Beri Beri and Wet Beri Beri
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From B1 (thiamine) deficiency
Dry: polyneuritis, muscle wasting Wet: High Output Failure (heart), edema |
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Vitamin B2 deficiency (Sx)
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2 C's: Cheilosis and Corneal Vascularization
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Hartnup Dx
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Decreased tryptophan absorption; NAD from tryptonphan
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Sx of Pellegra
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3 D's: Diarrhea, Dementia, Dermatitis
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Vit B5 Deficiency
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B5 ->CoA
Dermatitis, enteritiis, Alopecia, adrenal insufficiency |
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3 Fxns of Pyridoxine
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Heme Synthesis, transamination, decarboxylation
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Source of Vit B12
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only found in animal products
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Storage of B12
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stored in the liver
malabs test = schilling test |
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Source of Folate
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Folate from Foilage; green leafy
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Relation between Folic Acid and PABA
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PABA is precursor of Folic Acid
PABA derivatives are used in Pharm (since bact use this)-- sulfa drugs |
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Biotin Deficiency
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Caused by antibiotics and Raw Eggs (have avidin)
Sx = dermatitis and enteritis |
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Fxn of Biotin
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Carboxylation Rxns
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3 fxns of vit C
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1) Crosslinking Collagen (Hydroxylation of proline and lysine)
2) Fe2+ absorption- keeps Fe in 2+ redox state 3) cofactor for Dopamine -> NE |
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Vit D2 and D3
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D2 -> Ergo -> abs in milk
D3 made from sunlight exposure |
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Dx associated with excess vit Dx (active)
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Sarcoidosis (Mphages make 1-hydroxy enzyme)
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Cell associated with Vit E
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Vit E is for Erythrocytes
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Vit K and antibiotics
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Antibiotics can cause deficiency b/c bacteria syn vit K
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Sx of Zinc deficiency
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delayed wound healing, hypogonadism, decreased adult Hair
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Histones in nucleosome
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ALL but H1
nucleosome -> 30 nM fiber |
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Stuctural feature of thymine (NT)
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Thymine has methyl
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3 AA's used for purine synthesis
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GAG: Glycine, Aspartate, Glutamine
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Nonsense Mutation
Missense Mutation |
stop codon
Missense -> change in AA |
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Orgins of replication in Euk
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Euk -> many, Prok's -> one
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DNA pol I and Pol III
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Pol III -> replication (5' -> 3')
Pol I -> degrades primer, fills gaps |
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HNPCC defect
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defect in mismatch repair - newly synthesized unmethylated DNA checked for mismatches
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Xeroderma Pigmitosum defect
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nucleotide excision repair (from UV damage)
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5' and 3' ends
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5' -> 3 phosphates
3' -> OH |
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RNA pol I, II, and III
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Pol I ->rRNA
Pol II -> mRNA Pol III -> tRNA |
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alpha-amantin
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inhibits RNA pol II (Found in Death Cap Mushrooms)
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start codon
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UAG (met in Euks, fmet in prok)
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Stop codons
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UGG
UAA UAG |
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operator
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site where negative regulators bind
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3 steps to splicing
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1) snRNP's recog transcript
2) partial lariat made (exon1 free) 3) exon1 and 2 combined, lariat released |
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hnRNA vs mRNA
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hnRNA =heterologous = No processing
mRNA- has 3 steps of processing completed (5' cap, 3' tail, splicing) |
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aminoacyl tRNA synthease
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used to charge tRNA's with AA (uses 1 ATP)... where specificity occurs
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3 post-translational modifications
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phos, hydroxylation, glycosylation
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Stable Vs Labile Cells
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Stable: will go from Go to G1 with signal
Labile: never go to Go, always dividing from stem cells (instestinal, etc.) |
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shorted phase of cell cycle
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M
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SER Fxn
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SER -> steroid Synthesis; found high in adrenal cortex and liver
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N and O linked glycosyltion sites
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N -> ER
O -> gOlgi |
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course facial features, clouded cornea, resistant joint movements
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I cell Dx: mannose-6-P deficiency leads to traffiking to oustide of cell instead of lysosome
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Cop I, II and Clatherin Fxns
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Cop I -> retrograde
Cop II -> anterograde (ER to golgi) clatherin -> Golgi to PM |
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ON what AA's does sulfation occur?
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Tyrosine
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Chediak-Higashi
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defect in microtubule polymerization... decreased phagocytosis
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dynein vs. kinesin
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dynein -> retrograde transport (ass w/ Kartenergers)
kinesin -> anterograde |
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% of Plasma membrane that is cholesterol? effect of increasing chol content on melting temp?
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50%; increasing chol -> increasing melting temp
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Locations of phosphatidylcholine
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RBC, surfactant, myelin, bile
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