Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Apolipoprotein C1

Das Gen APC1 kodiert das Apolipoprotein C1, eine wichtige Komponente beim CETP-vermittelten Cholesterinesther-Transfer. Es könnte somit eine Bedeutung für die HDL-Cholesterinspiegel und damit die Arteriosklerose-Progression besitzen.

Genstruktur

Die 4 Apolipoproteine APOE, APOC1, APOC4 und APOC2 befinden sich hintereinander in der selben Orientierung auf dem Chromosom 19 (19q13.2). Das APOC1 besitzt auch noch ein Pseudogen, welches zwischen APOC1 und APOC4 liegt. Das exprimierte APOC1 besteht aus 4 Exons, von denen die Exons 2-4 das Protein kodieren.

Interpretation

Die Insertionsvariante des Promotors scheint im Zusammenhang mit dem APOE Typ epsilon4 mit der Alzheimererkrankung assoziiert.

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 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Apolipoprotein-Mangel
APOA5
APOB
APOC1
APOC2
APOC3
APOE
APOL1
APOM
Apolipoprotein A1-Mangel
APOA1
Apolipoprotein A2-Mangel
APOA2
Apolipoprotein F-Mangel
APOF
Apolipoprotein H-Mangel
APOH
CLU

Referenzen:

1.

Jong MC et al. (1999) Reversal of hyperlipidaemia in apolipoprotein C1 transgenic mice by adenovirus-mediated gene delivery of the low-density-lipoprotein receptor, but not by the very-low-density-lipoprotein receptor.

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2.

Bartrés-Faz D et al. (2001) APOE and APOC1 genetic polymorphisms in age-associated memory impairment.

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3.

Gautier T et al. (2002) Apolipoprotein CI deficiency markedly augments plasma lipoprotein changes mediated by human cholesteryl ester transfer protein (CETP) in CETP transgenic/ApoCI-knocked out mice.

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4.

Shachter NS et al. (2005) The common insertional polymorphism in the APOC1 promoter is associated with serum apolipoprotein C-I levels in Hispanic children.

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5.

Olsson B et al. (2010) Apolipoprotein C-I genotype and serum levels of triglycerides, C-reactive protein and coronary heart disease.

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6.

Zhou Q et al. (2014) Association between APOC1 polymorphism and Alzheimer's disease: a case-control study and meta-analysis.

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7.

Lauer SJ et al. (1988) Two copies of the human apolipoprotein C-I gene are linked closely to the apolipoprotein E gene.

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8.

Smit M et al. (1988) Apolipoprotein gene cluster on chromosome 19. Definite localization of the APOC2 gene and the polymorphic Hpa I site associated with type III hyperlipoproteinemia.

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9.

Myklebost O et al. (1988) A physical map of the apolipoprotein gene cluster on human chromosome 19.

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10.

Smit M et al. (1988) Exact localization of the familial dysbetalipoproteinemia associated HpaI restriction site in the promoter region of the APOC1 gene.

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11.

Tata F et al. (1985) Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19.

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12.

Scott J et al. (1985) Localization of genes encoding apolipoproteins CI, CII, and E to the p13----cen region of human chromosome 19.

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13.

Davison PJ et al. (1986) There are two gene sequences for human apolipoprotein CI (apo CI) on chromosome 19, one of which is 4 kb from the gene for apo E.

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14.

Myklebost O et al. (1986) The gene for human apolipoprotein CI is located 4.3 kilobases away from the apolipoprotein E gene on chromosome 19.

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15.

Lusis AJ et al. (1986) Regional mapping of human chromosome 19: organization of genes for plasma lipid transport (APOC1, -C2, and -E and LDLR) and the genes C3, PEPD, and GPI.

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16.

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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17.

Xu Y et al. (1999) A common Hpa I RFLP of apolipoprotein C-I increases gene transcription and exhibits an ethnically distinct pattern of linkage disequilibrium with the alleles of apolipoprotein E.

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