Medicine technology

1. pharmacogenetics

2. Definition:
 Pharmacogenetics is the study of inherited
genetic differences in drug
metabolic pathways which can affect
individual responses to drugs, both in terms
of therapeutic effect as well as adverse
effects.

3. Drug –drug interaction:
 Pharmacogenetics is a very useful and important tool in predicting
which drugs will be effective .Newfound use of pharmacogenetics
involves the use of Vitamin E.
 The Technion Israel Institute of Technology observed that vitamin E
can be used to in certain genotypes to lower the risk of
cardiovascular disease in patients with diabetes, but in the same
patients with another genotype, vitamin E can raise the risk of
cardiovascular disease.
 A study was carried out, showing vitamin E is able to increase the
function of HDL in those with the genotype haptoglobin 2-2 who
suffer from diabetes. However, if you possess the genotype
haptoglobin 2-1, then same treatment can drastically decrease your
HDL function and cause cardiovascular disease .

4. Brief history:
 Genetics arises in late 1800,s.
 Initial analysis of medical applications in
1950.
 1970: analysis of clinical phenotypes related
to known genes

5. Classic example:1960
 Glucose-6-phosphate-dehydrogenase
 Severe anaemia in some african american
upon taking primaquine, later found in 400
million african.

6. Rise in use of genetic linkage
analysis
 If two genes (or genetic features) are (1) close to
one another on a chromosome, and (2) each have
at least two different alleles, then
 It is likely that a disease allele for one gene would
be inherited together with a particular allele of the
other gene.
 If the “other gene” has an easy to measure
phenotype, then the presence of the disease allele
could be inferred from the presence/absence of this
phenotype.

7. Effect of genes on drug
response
 Drug at site of action:
Metabolism, transporters,plasma protein
binding
1.Thiopurine drugs and TPMT activity: bone
marrow and liver toxicity.
2. 5-Flourouracil and DPYD activity: decreased
metabolism that leads to leukocytopenia,
diarrhea, nausea etc.