Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Monoaminoxidase A

Das MAOA-Gen kodiert ein mitochondriales Enzym, welches für die oxadative deaminierung von Aminen verantwortlich ist. Mutationen führen zum x-chromosomal rezessiven Brunnder-Syndrom. Ein Zusammenhang mit der Histaminintoleranz wird auch diskutiert.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung ausgewählter Gen-Abschnitte
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Histamin-Intoleranz
AOC1
HNMT
MAOA
Brunner-Syndrom
MAOA

Referenzen:

1.

Deckert J et al. (1999) Excess of high activity monoamine oxidase A gene promoter alleles in female patients with panic disorder.

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2.

Shih JC et al. (1999) Monoamine oxidase: from genes to behavior.

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3.

Gilad Y et al. (2002) Evidence for positive selection and population structure at the human MAO-A gene.

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4.

Desautels A et al. (2002) Evidence for a genetic association between monoamine oxidase A and restless legs syndrome.

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5.

Caspi A et al. (2002) Role of genotype in the cycle of violence in maltreated children.

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6.

Fossella J et al. (2002) Assessing the molecular genetics of attention networks.

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7.

Fan J et al. (2003) Mapping the genetic variation of executive attention onto brain activity.

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8.

Cohen IL et al. (2003) Association of autism severity with a monoamine oxidase A functional polymorphism.

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9.

Chen ZY et al. (1992) Organization of the human monoamine oxidase genes and long-range physical mapping around them.

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10.

Chen K et al. (2004) A spontaneous point mutation produces monoamine oxidase A/B knock-out mice with greatly elevated monoamines and anxiety-like behavior.

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11.

Newman TK et al. (2005) Monoamine oxidase A gene promoter variation and rearing experience influences aggressive behavior in rhesus monkeys.

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12.

Passamonti L et al. (2006) Monoamine oxidase-a genetic variations influence brain activity associated with inhibitory control: new insight into the neural correlates of impulsivity.

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13.

Meyer-Lindenberg A et al. (2006) Neural mechanisms of genetic risk for impulsivity and violence in humans.

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14.

Hotamisligil GS et al. (1991) Human monoamine oxidase A gene determines levels of enzyme activity.

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15.

Ou XM et al. (2006) Monoamine oxidase A and repressor R1 are involved in apoptotic signaling pathway.

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16.

Guo G et al. (2008) The VNTR 2 repeat in MAOA and delinquent behavior in adolescence and young adulthood: associations and MAOA promoter activity.

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17.

McDermott R et al. (2009) Monoamine oxidase A gene (MAOA) predicts behavioral aggression following provocation.

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18.

Grimsby J et al. (1991) Human monoamine oxidase A and B genes exhibit identical exon-intron organization.

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19.

Whibley A et al. (2010) Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.

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20.

Cohen IL et al. (2011) Autism severity is associated with child and maternal MAOA genotypes.

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21.

Sims KB et al. (1989) Monoamine oxidase deficiency in males with an X chromosome deletion.

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22.

Lan NC et al. (1989) Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie disease.

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23.

Levy ER et al. (1989) Localization of human monoamine oxidase-A gene to Xp11.23-11.4 by in situ hybridization: implications for Norrie disease.

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24.

Ozelius L et al. (1988) Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11) and DNA polymorphism.

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25.

de la Chapelle A et al. (1985) Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis.

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26.

Kochersperger LM et al. (1986) Assignment of genes for human monoamine oxidases A and B to the X chromosome.

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27.

Denney RM et al. (1982) Human liver MAO-A and MAO-B separated by immunoaffinity chromatography with MAO-B-specific monoclonal antibody.

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28.

Pintar JE et al. (1981) Gene for monoamine oxidase type A assigned to the human X chromosome.

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29.

Castro Costa MR et al. (1980) Properties of monoamine oxidase in control and Lesch-Nyhan fibroblasts.

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30.

Nöthen MM et al. (1995) Association analysis of the monoamine oxidase A gene in bipolar affective disorder by using family-based internal controls.

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31.

Cases O et al. (1995) Aggressive behavior and altered amounts of brain serotonin and norepinephrine in mice lacking MAOA.

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32.

Kawada Y et al. (1995) Possible association between monoamine oxidase A gene and bipolar affective disorder.

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33.

Lim LC et al. (1994) Monoamine oxidase A gene and bipolar affective disorder.

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34.

Brunner HG et al. (1993) Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.

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35.

Brunner HG et al. (1993) X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.

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36.

Lenders JW et al. (1996) Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes.

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37.

Sabol SZ et al. (1998) A functional polymorphism in the monoamine oxidase A gene promoter.

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