Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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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