Genetics 10/09 And Amino Acids 10/10

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model system characteristics

Back 1

short life-cycle, techniques for genetic manipulation (inbred strains, stem cell lines, and methods of transformation) and non-specialist living requirements. sequencing of the model organism's genome, for example, by being very compact or having a low proportion of junk DNA
size, generation time, accessibility, manipulation, genetics, conservation of mechanisms, and potential economic benefit.

Front 2

chemotherapy story tells about kid with cancer and what drug and gene and related 2 things

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6-mercaptopurine drug. WBC, RBC, platelet crash.
gene Enzyme thiopurine methyl transferase TPMT in RBC degrades it. lower his dose to 10%.

Front 3

gene needed for codeine

Back 3

CYP2D6 gene
this enzyme converts codeine to morphine

need alternative drug

10% of people have

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warfarin gene

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CYP2C9 gene
enzyme breakdown of warfarin (coumadin)

need 80% reduction of meds

1% of people have

Front 5

how many amino acids

Back 5

20 we use, over 300

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amino acid characteristics

Back 6

alpha amino acids (alpha carbon)
carboxyl group and amino group
chiral and use L isomer

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amino acids as acid/base

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zwitterions
pKa of COOH ~2
pKa of NH3 ~9.5

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the opposite of aromatic

Back 8

aliphatic

Front 9

cystinuria

Back 9

autosomal recessive disorder 1/10000

transport protein that aids reabsorption from urine of cys, lys, arg is broken. Get calculi in kidneys, ureters and/or bladder.

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isoelectric point

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pI. molecule has no net charge

uncharged, you use the terminal amino and carboxyl groups, so pI is avg of the two pH's

if charged, map the pKa's, find the inbetween for 0 charge and avg the pKa's bordering

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hydropathy

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how hydrophobic. look at deltaG required to move between apolar solvent to water

Front 12

PKU

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phenylketonuria
lack of Phenyl hydroxylase (PAH) -> tyrosine (75% of Phe -> Tyr)

untreated -> retardation, half die by 20. Recessive. 1/20000

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primary oxaluria type I

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defect in Gly degradation builds up glyoxylate which is an oxalate- bad because that precipitates with Ca and forms calculi and stones

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