Article
A missense mutation in exon 6 of the CYP2D6 gene leading to a histidine 324 to proline exchange is associated with the poor metabolizer phenotype of sparteine.
Naunyn-Schmiedeberg's archives of pharmacology - 1 Oct 1994
Evert B, Griese E U, Eichelbaum M
Abstract excerpt
The sparteine/debrisoquine polymorphism is a clinically important genetic deficiency of cytochrome P4502D6-catalyzed oxidative drug metabolism. 5-10% of Caucasians designated as poor metabolizers have a severely impaired capacity to metabolize more than 30 therapeutically used drugs. Genotyping o...
Topics
- Alleles
- Amino Acid Sequence
- Computer Simulation
- Cytochrome P-450 CYP2D6
- Cytochrome P-450 Enzyme System
- Exons
- Genotype
- Histidine
- Humans
- Mixed Function Oxygenases
- Molecular Sequence Data
- Phenotype
- Polymerase Chain Reaction
- Proline
- Sequence Analysis
- Sparteine