CYP2D6 Polymorphism

Paper Summary:

This paper explains "pharmacogenetics" focuses on genetic polymorphism in drug-metabolizing enzymes and how this is translated into inherited differences in drug effects. "Genetic polymorphism" is defined as the inheritance of a trait controlled by a single genetic locus with at least two alleles in which the least common allele has a frequency of about 1% or greater; furthermore, one of the most extensively studied genetic polymorphisms known to influence drug metabolism and its response is the debrisoquine type (CYP2D6), oxidation polymorphism. The author points out that somatic cell hybrid, in situ hybridization, and linkage mapping made it possible to localize the cytochrome P450 CYP2D6 on the q13.1 position of chromosome 22. The paper relates that racial and ethnic studies of drug metabolism have shown substantial inter-population differences in the metabolism of CYP2D6 genetic material, indicating that these mutations must have occurred once these populations were separated from each other. Many tables and charts.

Table of Contents
Introduction
Mapping
Molecular Genetics
Allelic Variants
Population Genetics
Evolution
Pathogenesis
Techniques
Appendix

From the Paper:

"With the availability of screening for specific polymorphism in order to get personalized medicine, together with the understanding of the concept of pharmacogenetics and the different reactions it can have depending on some ones genome it would be possible to create new drugs with more powerful and more selective results than before. Doctors will be in the capacity of consulting the patient's genetic profile, anticipating if the patient has the probability of reacting in a certain way to some specific drugs. Probably in a near future the rule will be for each drug to have attached a certain number of examinations for some genome positions to which the drug metabolism could be altered."

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