Article
The human CYP2D locus associated with a common genetic defect in drug oxidation: a G1934----A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3' splice recognition site.
American journal of human genetics - 1 Dec 1990
Hanioka N, Kimura S, Meyer U A, Gonzalez F J
Abstract excerpt
The debrisoquine polymorphism is a common genetic defect that results in deficient oxidation of debrisoquine and numerous other drugs. These compounds are metabolized by a form of cytochrome P450, designated CYP2D6. Some 5%-10% of Caucasians are unable to metabolize debrisoquine, because of mutant alleles of CYP2D6. A CYP2D6 allele was isolated from leukocyte DNA of an individual who was deficient in debrisoquine...
Topics
- Alleles
- Base Sequence
- Cytochrome P-450 Enzyme System
- Debrisoquin
- Exons
- Gene Conversion
- Genes
- Humans
- Introns
- Molecular Sequence Data
- Mutation