Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Apolipoprotein A4

Das APOA4-Gen kodiert ein Apolipoprotein, welches ein wichtiger Bestandteil von Chylomikronen und der HDL-Partikel ist. Genetische Variationen sind mit familiärer kombinierter Hyperlipidämie assoziiert.

Genstruktur

Das APOA1-APOC3-APOA4 Gen-Cluster weist einen hohen Grad an linkage disequilibrium auf. So können Assoziationen von bestimmten Polymorphismen eines Gens durchaus auch auf Assoziationen mit Polymorphismen in einem der anderen Gene zusammenhängen.

Diagnostik:

Research 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:

Kombinierte familiäre Hyperlipämie mit gestörtem VLDL-Metabolismus
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LPL
RXRG
USF1

Referenzen:

1.

Karathanasis SK et al. (1986) Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4).

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2.

von Eckardstein A et. al. (1992) Nonsynonymous polymorphic sites in the apolipoprotein (apo) A-IV gene are associated with changes in the concentration of apo B- and apo A-I-containing lipoproteins in a normal population.

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3.

Kamboh MI et. al. (1992) Molecular basis of a unique African variant (A-IV 5) of human apolipoprotein A-IV and its significance in lipid metabolism.

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4.

Lohse P et. al. (1990) Human plasma apolipoproteins A-IV-0 and A-IV-3. Molecular basis for two rare variants of apolipoprotein A-IV-1.

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5.

Menzel HJ et. al. (1990) Frequency and effect of human apolipoprotein A-IV polymorphism on lipid and lipoprotein levels in an Icelandic population.

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6.

Lohse P et. al. (1990) Genetic polymorphism of human plasma apolipoprotein A-IV is due to nucleotide substitutions in the apolipoprotein A-IV gene.

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7.

Rogne S et. al. (1986) Confirmation of the close linkage between the loci for human apolipoproteins AI and AIV by the use of a cloned cDNA probe and two restriction site polymorphisms.

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8.

Elshourbagy NA et. al. (1987) Structure and expression of the human apolipoprotein A-IV gene.

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9.

Elshourbagy NA et. al. (1986) The nucleotide and derived amino acid sequence of human apolipoprotein A-IV mRNA and the close linkage of its gene to the genes of apolipoproteins A-I and C-III.

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10.

Menzel HJ et. al. (1988) Human apolipoprotein A-IV polymorphism: frequency and effect on lipid and lipoprotein levels.

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11.

Kamboh MI et. al. (1987) Genetic studies of human apolipoproteins. I. Polymorphism of apolipoprotein A-IV.

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12.

Karathanasis SK et al. (1985) Apolipoprotein multigene family: tandem organization of human apolipoprotein AI, CIII, and AIV genes.

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13.

Tracy RP et. al. (1982) Two-dimensional gel electrophoresis of serum specimens from a normal population.

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14.

Schamaun O et. al. (1984) The two apolipoprotein loci apo A-I and apo A-IV are closely linked in man.

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15.

Green PH et. al. (1980) Human apolipoprotein A-IV. Intestinal origin and distribution in plasma.

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16.

Menzel HJ et. al. (1982) Apolipoprotein A-IV polymorphism in man.

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17.

Duverger N et. al. (1996) Protection against atherogenesis in mice mediated by human apolipoprotein A-IV.

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18.

Cohen RD et. al. (1997) Reduced aortic lesions and elevated high density lipoprotein levels in transgenic mice overexpressing mouse apolipoprotein A-IV.

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