Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Cytochrom P450, Subfamilie IID, Polypeptid 6

Das CYP2D6-Gen kodiert ein Cytochrom P450 Enzym, welches insbesondere für die Metabolisierung von Codein und Debrisoquin eine Rolle zu spielen scheint.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Alzheimer Erkrankung
APOE
APP
CLU
CYP2D6
HFE

Referenzen:

1.

Idle JR et al. (2000) Medical implications of HGP's sequence of chromosome 22.

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2.

Nakamura K et al. (2002) CYP2D6.10 present in human liver microsomes shows low catalytic activity and thermal stability.

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3.

Nelson DR et al. (2004) Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants.

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4.

Gasche Y et al. (2004) Codeine intoxication associated with ultrarapid CYP2D6 metabolism.

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5.

Gaedigk A et al. (1991) Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism.

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6.

Koren G et al. (2006) Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother.

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7.

Desmeules J et al. (1991) Impact of environmental and genetic factors on codeine analgesia.

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8.

Gough AC et al. (1990) Identification of the primary gene defect at the cytochrome P450 CYP2D locus.

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9.

Hanioka N et al. (1990) 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.

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10.

Kagimoto M et al. (1990) 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.

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11.

Chen X et al. (1995) The CYP2D6B allele is associated with a milder synaptic pathology in Alzheimer's disease.

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12.

Johansson I et al. (1993) Inherited amplification of an active gene in the cytochrome P450 CYP2D locus as a cause of ultrarapid metabolism of debrisoquine.

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13.

Panserat S et al. (1994) DNA haplotype-dependent differences in the amino acid sequence of debrisoquine 4-hydroxylase (CYP2D6): evidence for two major allozymes in extensive metabolisers.

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14.

Saxena R et al. (1994) Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype.

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15.

Broly F et al. (1995) A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency.

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16.

Steen VM et al. (1995) Homologous unequal cross-over involving a 2.8 kb direct repeat as a mechanism for the generation of allelic variants of human cytochrome P450 CYP2D6 gene.

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17.

Marez D et al. (1997) Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: characterization of 48 mutations and 53 alleles, their frequencies and evolution.

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18.

Yue QY et al. (1997) Quantification of the O- and N-demethylated and the glucuronidated metabolites of codeine relative to the debrisoquine metabolic ratio in urine in ultrarapid, rapid, and poor debrisoquine hydroxylators.

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19.

NCBI article

NCBI 1565 [^]
20.

OMIM.ORG article

Omim 124030 [^]
21.

Orphanet article

Orphanet ID 241953 [^]
22.

Wikipedia Artikel

Wikipedia DE (Cytochrom_P450_2D6) [^]
Update: 9. Mai 2019