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30 Cards in this Set

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Ecogenetics
Dz that result in susceptibility to environmental or occupational exposures
what are the 4 stages of drug metabolism??
1.)Intake
2.)absorbtion from gut to blood
3.) disribution
4.)excretion
Biochemical modification in Liver
oxidized to CO2 & exhaled
excreted in modified forms
Conjugation (morphine)
Acetylation (Isoniazid)
What determines genetic variation?
revealed only by effect of drugs
N-Acetyltransferase activity
Isoniazid(TB)
Group 1: rapid inactivator, level falls quicky

Group 2: Slow inactivator, remain high longer
Slow inactivator
Homozygous recessive of N-AT

USA & Western Europe
Rapid inactivator
Japan population

Require higher doses to work &may risk Liver damage
SE of N-AT activity
1.)Polyneuritis, SLE syndrome in slow population
What does Succinylcholine Sensitivity do?
Relaxes muscle and stops breathing
How long does Succinylcholine sensitivity last?
2-3 mintes
1:2000 will last 1 hr
must ventilate for patient wakes up
What inheritance is Succinylcholine sensitivity?
AR inheritance

Tri-modal kinetics
CHE-1 gene mutation
What is Primaquine toxicity?
this is a malaria drug toxicity that causes
1.)Hemolysis and Jaundice from G6PD deficiency

Common in African Caribbean & Mediterranean men, May cound for malaria resistance
Other G6PD variants
1.)Nitrofurantoin & Sulfonamides
2.) Fava bean crisis (Favaism)
Coumatin Anticoagulants
Cytochrome P450 enzyme metabolism

Patients with this need alower does to reach INR
Need close monitoring and results in increased risk of bleeding
What is Malignant Hypethermia?
anasthesia complication usually caused by Halothane & Succinylcholine; AD trait
1.)Fever to 108
2.)Muscle rigidity

screen by muscle Bx, halothane/caffeine exposure
Thipurine methytransferase
Thiopurine
toxin used for Leukermia, SLE and to surpress transplant rejection
Phenylbutazone metabolism
used for arthritis
Polygenic control (bell shaped curve)
Debrisoquine metabolism
OLD HTN drug
Bimodal distribution to drug
effected get severe drop in BP
AR gene for hydroxylation

Abnormal cytochrome P450 on chromo 22
Dihydropyrimidine dehydrogenase
catabolizes 5-FU
deficiency results in toxicity
check cancer pt for this prior to Tx
What is Porphyric Variagata
AD trait
Sun exposure=skin lesions
abdominal pain
Paralysis
mental disturbances
What triggers Prophyric Variagata?
Barbituates
Steroid Hormones
What causes hemoglobinopathies?
Sulfonamides=severe hemolysis

Hemoglobin H & Zurich are rare
What can cause hyperuricemia or gout attacks in prone individuals?
Diuretics
What is Criggler-Najjar Syndrome?
1.)AR trait
Homozygous:lethal
Heterozygote:OK
Severe non-hemolytic jaundice
can't conjugate bilirubin or meds (ASA)
what can you analyze to determine the interaction of genetic makeup & drug?
SNP
What is an example of a whole genome SNP & SNP print?
Apo E determine Cholesterol early in life and risk of Alzheimers later in life
two examples of adverse events to meds
1.)Abacavir(HIV drug): fatal hypsersensitivity
2.)Felbamate(seizure drug): toxic metabolites
An exaple of good effects
Herpceptin: works on protein expressed in 1/3 of breast cancer pts
Give this drug only if protein present
Give an example of Ecogenetics
1.)UV-fair skin-skin CA
2.)Fats-high lipids-atherosclerosis
3.)Fava beans-G6PD def-favaism
Organophospate metabolism
deficient breakdown of enzymes making one prone to accidental overdose