Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Beta-3-adreneger Rezeptor

Das ADRB3-Gen codiert den beta-3-adrenergen Rezeptor. Mutationen sind mit Adipositas in Zusammenhang gebracht. Die Vererbung folgt einem dominanten Model. Es kann zudem zu synergistischen Reaktionen mit Mutationen in anderen Genen kommen.

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:

Neigung zu Fettleibigkeit
ADRB2
ADRB3
CARTPT
ENPP1
GHRL
PPARGC1B
SDC3
UCP1

Referenzen:

1.

Bachman ES et. al. (2002) betaAR signaling required for diet-induced thermogenesis and obesity resistance.

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2.

Cagliani R et. al. (2009) Diverse evolutionary histories for beta-adrenoreceptor genes in humans.

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3.

Emorine LJ et. al. (1989) Molecular characterization of the human beta 3-adrenergic receptor.

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4.

Walston J et. al. (1995) Time of onset of non-insulin-dependent diabetes mellitus and genetic variation in the beta 3-adrenergic-receptor gene.

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5.

Clément K et. al. (1995) Genetic variation in the beta 3-adrenergic receptor and an increased capacity to gain weight in patients with morbid obesity.

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6.

Wilkie TM et. al. (1993) Identification, chromosomal location, and genome organization of mammalian G-protein-coupled receptors.

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7.

van Spronsen A et. al. (1993) The promoter and intron/exon structure of the human and mouse beta 3-adrenergic-receptor genes.

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8.

Gagnon J et. al. (1996) The Trp64Arg mutation of the beta3 adrenergic receptor gene has no effect on obesity phenotypes in the Québec Family Study and Swedish Obese Subjects cohorts.

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9.

Elbein SC et. al. (1996) Role of the beta 3-adrenergic receptor locus in obesity and noninsulin-dependent diabetes among members of Caucasian families with a diabetic sibling pair.

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10.

Comuzzie AG et. al. (1997) A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2.

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11.

Nagase T et. al. (1997) Lack of association between the Trp64 Arg mutation in the beta 3-adrenergic receptor gene and obesity in Japanese men: a longitudinal analysis.

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12.

Kim-Motoyama H et. al. (1997) A mutation of the beta 3-adrenergic receptor is associated with visceral obesity but decreased serum triglyceride.

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13.

Mitchell BD et. al. (1998) A paired sibling analysis of the beta-3 adrenergic receptor and obesity in Mexican Americans.

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14.

Büettner R et. al. (1998) The Trp64Arg polymorphism of the beta 3-adrenergic receptor gene is not associated with obesity or type 2 diabetes mellitus in a large population-based Caucasian cohort.

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15.

García-Rubi E et. al. (1998) Trp64Arg variant of the beta3-adrenoceptor and insulin resistance in obese postmenopausal women.

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16.

Hoffstedt J et. al. (1999) Polymorphism of the human beta3-adrenoceptor gene forms a well-conserved haplotype that is associated with moderate obesity and altered receptor function.

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17.

Shihara N et. al. (1999) The association between Trp64Arg polymorphism of the beta3-adrenergic receptor and autonomic nervous system activity.

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18.

Festa A et. al. (1999) Trp64Arg polymorphism of the beta3-adrenergic receptor gene in pregnancy: association with mild gestational diabetes mellitus.

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19.

Urhammer SA et. al. (2000) Studies of the synergistic effect of the Trp/Arg64 polymorphism of the beta3-adrenergic receptor gene and the -3826 A-->G variant of the uncoupling protein-1 gene on features of obesity and insulin resistance in a population-based sample of 379 young Danish subjects.

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20.

Walston J et. al. (2000) Insulin response to glucose is lower in individuals homozygous for the Arg 64 variant of the beta-3-adrenergic receptor.

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21.

Wang X et. al. (2004) Effects of the Trp64Arg polymorphism in the beta3-adrenergic receptor gene on insulin sensitivity in small for gestational age neonates.

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