Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Cytochrom P450 3A5

Das CYP3A5-Gen kodiert ein Enzym aus der Cytochrome P450-Oberfamilie. Das Enzym ist am Stoffwechsel von Steroiden (Hormonn und Lipiden) wie auch verschiedenen Medikamenten beteiligt.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Salzsensitiver essentieller Hypertonus
CYP3A5

Referenzen:

1.

Aoyama T et. al. (1989) Cytochrome P-450 hPCN3, a novel cytochrome P-450 IIIA gene product that is differentially expressed in adult human liver. cDNA and deduced amino acid sequence and distinct specificities of cDNA-expressed hPCN1 and hPCN3 for the metabolism of steroid hormones and cyclosporine.

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2.

Jounaïdi Y et. al. (1994) Sequence of the 5'-flanking region of CYP3A5: comparative analysis with CYP3A4 and CYP3A7.

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3.

Yamakoshi Y et. al. (1999) Human prostate CYP3A5: identification of a unique 5'-untranslated sequence and characterization of purified recombinant protein.

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4.

Paulussen A et. al. (2000) Two linked mutations in transcriptional regulatory elements of the CYP3A5 gene constitute the major genetic determinant of polymorphic activity in humans.

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5.

Gellner K et. al. (2001) Genomic organization of the human CYP3A locus: identification of a new, inducible CYP3A gene.

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6.

Kuehl P et. al. (2001) Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression.

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7.

Hustert E et. al. (2001) The genetic determinants of the CYP3A5 polymorphism.

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8.

Lin YS et. al. (2002) Co-regulation of CYP3A4 and CYP3A5 and contribution to hepatic and intestinal midazolam metabolism.

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9.

Givens RC et. al. (2003) CYP3A5 genotype predicts renal CYP3A activity and blood pressure in healthy adults.

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10.

Lee SJ et. al. (2003) Genetic findings and functional studies of human CYP3A5 single nucleotide polymorphisms in different ethnic groups.

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11.

Kivistö KT et. al. (2004) Lipid-lowering response to statins is affected by CYP3A5 polymorphism.

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12.

Thompson EE et. al. (2004) CYP3A variation and the evolution of salt-sensitivity variants.

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