Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement-Komponente C8, C-Kette

Das C8G-Gen kodiert die gamma Polypeptidkette des Complementfaktors 8. Dieser Faktor ist am membrane attack complex (MAC) beteiligt, welcher Poren in die Bakterienwände bestimmter Bakterien zu reißen und damit die Zerstörung herbeizuführen vermag. Erkrankungen sind bisher nicht mit Mutationen in diesem Gen in Zusammenhang gebracht worden.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Komplement C8-Mangel
C8G
Komplement C8-Mangel Typ 1
C8A
Komplement C8-Mangel Typ 2
C8B
Meningokokken-Infektanfälligkeit
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP

Referenzen:

1.

Klob WP et al. (1976) The membrane attack mechanism of complement: the three polypeptide chain structure of the eigth component (C8).

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2.

Hunt LT et al. (1987) The homology of complement factor C8 gamma chain and alpha-1-microglobulin.

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3.

Haefliger JA et al. (1987) Structural homology of human complement component C8 gamma and plasma protein HC: identity of the cysteine bond pattern.

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4.

Kaufman KM et al. (1989) Chromosomal assignment of genes encoding the alpha, beta, and gamma subunits of human complement protein C8: identification of a close physical linkage between the alpha and the beta loci.

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5.

Ng SC et al. (1987) The eighth component of human complement: evidence that it is an oligomeric serum protein assembled from products of three different genes.

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6.

Brickner A et al. (1985) Functional domains of the alpha subunit of the eighth component of human complement: identification and characterization of a distinct binding site for the gamma chain.

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7.

Chan P et al. (1994) Comparative mapping of lipocalin genes in human and mouse: the four genes for complement C8 gamma chain, prostaglandin-D-synthase, oncogene-24p3, and progestagen-associated endometrial protein map to HSA9 and MMU2.

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8.

Dewald G et al. (1996) The human complement C8G gene, a member of the lipocalin gene family: polymorphisms and mapping to chromosome 9q34.3.

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