Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

CYP2A6-Gen

Das CYP2A-Gen kodiert eine Cytochom P450 Enzym, welches für die Metabolisierung verscheiedener Medikamente verantwortlich ist und damit deren Wirkung nachhaltig beeinflussen kann. Zu den wichtigsten dieser Medikamente gehört der Gerinnungshemmer Coumarin. Da auch Metabolismus von Nikotin über dieses Enzym verläuft erscheint es nicht verwunderlich das Varianten dieses Enzyms mit der Anfälligkeit gegenüber Lungenkarzinomen in Verbindung gebracht werden.

Diagnostik:

Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
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:

Coumarin-Resistenz
CYP2A6
CYP2C9
CYP4F2
VKORC1

Referenzen:

1.

Trask B et al. (1993) Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers.

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2.

London SJ et al. (1999) Genetic variation of CYP2A6, smoking, and risk of cancer.

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3.

Oscarson M et al. (1999) Characterisation and PCR-based detection of a CYP2A6 gene deletion found at a high frequency in a Chinese population.

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4.

Paolini M et. al. (1999) Co-carcinogenic effect of beta-carotene.

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5.

Miyamoto M et al. (1999) CYP2A6 gene deletion reduces susceptibility to lung cancer.

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6.

Gu DF et al. (2000) The use of long PCR to confirm three common alleles at the CYP2A6 locus and the relationship between genotype and smoking habit.

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7.

Hoffman SM et al. (2001) Organization, structure and evolution of the CYP2 gene cluster on human chromosome 19.

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8.

Daigo S et al. (2002) A novel mutant allele of the CYP2A6 gene (CYP2A6*11 ) found in a cancer patient who showed poor metabolic phenotype towards tegafur.

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9.

Oscarson M et al. (2002) Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity.

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10.

Saito S et al. (2003) Catalog of 680 variations among eight cytochrome p450 ( CYP) genes, nine esterase genes, and two other genes in the Japanese population.

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11.

OMURA T et al. (1964) THE CARBON MONOXIDE-BINDING PIGMENT OF LIVER MICROSOMES. I. EVIDENCE FOR ITS HEMOPROTEIN NATURE.

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12.

Gambier N et al. (2005) Association of CYP2A6*1B genetic variant with the amount of smoking in French adults from the Stanislas cohort.

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13.

Palmer G et al. (1991) Nomenclature Committee of the International Union of Biochemistry (NC-IUB). Nomenclature of electron-transfer proteins. Recommendations 1989.

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14.

Nebert DW et al. (1991) Proposed role of drug-metabolizing enzymes: regulation of steady state levels of the ligands that effect growth, homeostasis, differentiation, and neuroendocrine functions.

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15.

Mwenifumbo JC et al. (2008) Novel and established CYP2A6 alleles impair in vivo nicotine metabolism in a population of Black African descent.

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16.

Miles JS et al. (1990) Close linkage of the cytochrome P450IIA gene subfamily (Cyp2a) to Cyp2b and Coh on mouse chromosome 7.

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17.

Nebert DW et al. (1979) Multiple forms of inducible drug-metabolizing enzymes: a reasonable mechanism by which any organism can cope with adversity.

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18.

Yamano S et al. (1990) The CYP2A3 gene product catalyzes coumarin 7-hydroxylation in human liver microsomes.

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19.

Matsunaga T et al. (1990) Structure and in vitro transcription of the rat CYP2A1 and CYP2A2 genes and regional localization of the CYP2A gene subfamily on mouse chromosome 7.

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20.

Miles JS et al. (1989) Close linkage of the human cytochrome P450IIA and P450IIB gene subfamilies: implications for the assignment of substrate specificity.

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21.

Yamano S et al. (1989) cDNA and deduced amino acid sequences of human P450 IIA3 (CYP2A3).

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22.

Negishi M et al. (1989) Mouse steroid 15 alpha-hydroxylase gene family: identification of type II P-450(15)alpha as coumarin 7-hydroxylase.

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23.

Phillips IR et al. (1985) A cytochrome P-450 gene family mapped to human chromosome 19.

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24.

Nebert DW et. al. (1987) P450 genes: structure, evolution, and regulation.

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25.

Davis MB et al. (1986) Regional localization of a human cytochrome P-450 (CYP1) to chromosome 19q13.1-13.3.

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26.

Davis MB et al. (1987) Linkage between the loci for peptidase D and cytochrome P-450 (CYP1) on chromosome 19.

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27.

Phillips IR et al. (1985) Isolation and sequence of a human cytochrome P-450 cDNA clone.

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28.

Wainwright BJ et al. (1985) RFLP for a human cytochrome P-450 gene at 19q13.1-qter (HGM8 provisional designation CYPI).

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29.

Wood AW et al. (1974) Genetic variation in coumarin hydroxylase activity in the mouse (Mus musculus).

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30.

Lush IE et al. (1978) Genetic variation between mice in their metabolism of coumarin and its derivatives.

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31.

Fernandez-Salguero P et al. (1995) A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles.

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32.

Nelson DR et al. () The P450 superfamily: update on new sequences, gene mapping, accession numbers, early trivial names of enzymes, and nomenclature.

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33.

Aida K et al. (1994) Lack of the steroid 15 alpha-hydroxylase gene (Cyp2a-4) in wild mouse strain Mus spretus: rapid evolution of the P450 gene superfamily.

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34.

Nakajima M et al. (1996) Role of human cytochrome P4502A6 in C-oxidation of nicotine.

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35.

Hadidi H et al. (1997) A single amino acid substitution (Leu160His) in cytochrome P450 CYP2A6 causes switching from 7-hydroxylation to 3-hydroxylation of coumarin.

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36.

Yokoi T et al. (1998) Genetic polymorphism of drug metabolizing enzymes: new mutations in CYP2D6 and CYP2A6 genes in Japanese.

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37.

Kratz F et al. (1976) Coumarin-7-hydroxylase activity in microsomes from needle biopsies of normal and diseased human liver.

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38.

Pianezza ML et al. (1998) Nicotine metabolism defect reduces smoking.

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39.

Oscarson M et al. (1998) Genotyping of human cytochrome P450 2A6 (CYP2A6), a nicotine C-oxidase.

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