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Article

Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism.

American journal of human genetics - 1 May 1991

Gaedigk A, Blum M, Gaedigk R, Eichelbaum M, Meyer U A

Abstract excerpt

The debrisoquine/sparteine polymorphism is associated with a clinically important genetic deficiency of oxidative drug metabolism. From 5% to 10% of Caucasians designated as poor metabolizers (PMs) of the debrisoquine/sparteine polymorphism have a severely impaired capacity to metabolize more than 25 therapeutically used drugs. The impaired drug metabolism in PMs is due to the absence of cytochrome P450IID6...

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Identifiers

PMID: 1673290
PMCID: PMC1683061

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Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism.PMID 1673290Read ↗

Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. Study of the functional significance of individual mutations by expression of chimeric genes.Semantic proximity Read ↗

Debrisoquine/sparteine hydroxylation genotype and phenotype: analysis of common mutations and alleles of CYP2D6 in a European population.Semantic proximity Read ↗

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.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype.Semantic proximity Read ↗

Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemistry.Semantic proximity Read ↗

Detection of the poor metabolizer-associated CYP2D6(D) gene deletion allele by long-PCR technology.Semantic proximity Read ↗

Debrisoquine oxidation polymorphism: phenotypic consequences of a 3-base-pair deletion in exon 5 of the CYP2D6 gene.Semantic proximity Read ↗

A novel mutant variant of the CYP2D6 gene (CYP2D6*17) common in a black African population: association with diminished debrisoquine hydroxylase activity.Semantic proximity Read ↗

Identification of a new variant CYP2D6 allele lacking the codon encoding Lys-281: possible association with the poor metabolizer phenotype.Semantic proximity Read ↗

Genetic analysis of the interethnic difference between Chinese and Caucasians in the polymorphic metabolism of debrisoquine and codeine.Semantic proximity Read ↗

Identification of the primary gene defect at the cytochrome P450 CYP2D locus.Semantic proximity Read ↗

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