Inherited Amplification of an Active Gene in the Cytochrome P450 CYP2D Locus as a Cause of Ultrarapid Metabolism of Debrisoquine

Deficient hydroxylation of debrisoquine is an autosomal recessive trait that affects ≈7% of the Caucasian population. These individuals (poor metabolizers) carry deficient CYP2D6 gene variants and have an impaired metabolism of several commonly used drugs. The opposite phenomenon also exists, and ce...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 1993-12, Vol.90 (24), p.11825-11829
Hauptverfasser:	Johansson, Inger, Lundqvist, Eva, Bertilsson, Leif, Dahl, Marja-Liisa, Sjoqvist, Folke, Ingelman-Sundberg, Magnus
Format:	Artikel
Sprache:	eng
Schlagworte:	550400 - Genetics Alleles Amino Acid Sequence Animals Base Sequence BASIC BIOLOGICAL SCIENCES Biological and medical sciences CYP2D gene Cytochrome P-450 CYP2D6 Cytochrome P-450 Enzyme System - genetics Cytochrome P-450 Enzyme System - metabolism cytochrome P450 CYTOCHROMES Debrisoquin - metabolism debrisoquine DNA DNA Primers DRUGS European Continental Ancestry Group - genetics Exons Fathers Female gel electrophoresis GENE AMPLIFICATION GENE MUTATIONS General pharmacology genes Genetic inheritance Genetic mutation Genetic Variation Genomics Genotype Haplotypes Hominidae - genetics Humans Kinetics Male man Medical sciences METABOLISM Mixed Function Oxygenases - genetics Mixed Function Oxygenases - metabolism Molecular Sequence Data MUTATIONS ORGANIC COMPOUNDS Pharmacokinetics. Pharmacogenetics. Drug-receptor interactions Pharmacology. Drug treatments PIGMENTS Point Mutation Polymerase Chain Reaction Polymorphism, Restriction Fragment Length PROTEINS restriction fragment length polymorphism Restriction Mapping RFLPS Sons
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