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Komplement-Komponente C7

Das C7-Gen kodiert einen Komplementfaktor des MAC (membrane attack complex). Mutationen führen zu C7-Mangel, welche sich in immunologischen Störungen insbesodere die Anfälligkeit für Meningokokken-Infektionen äußern kann.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

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

Referenzen:

1.

Fernie BA et al. (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

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2.

Barroso S et al. (2006) Molecular defects of the C7 gene in two patients with complement C7 deficiency.

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3.

Barroso S et al. (2004) Complement component C7 deficiency in two Spanish families.

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4.

Hobart MJ et al. (1995) Structure of the human C7 gene and comparison with the C6, C8A, C8B, and C9 genes.

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5.

Nakamura S et al. (1984) Genetic polymorphism of the seventh component of complement in a Japanese population.

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6.

Nishimukai H et al. (1986) Genetic polymorphism of the seventh component of complement: a new variant.

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7.

DiScipio RG et al. (1988) The structure of human complement component C7 and the C5b-7 complex.

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8.

Würzner R et al. (1990) C7*9, a new frequent C7 allele detected by an allotype-specific monoclonal antibody.

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9.

Würzner R et al. (1992) A novel protein polymorphism of human complement C7 detected by a monoclonal antibody.

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10.

Fernie BA et al. (1998) Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

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11.

Fernie BA et al. (1997) Molecular bases of C7 deficiency: three different defects.

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12.

Nishizaka H et al. (1996) Genetic bases of human complement C7 deficiency.

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13.

Eldridge PR et al. (1983) The genetics of the sixth and seventh components of complement in the dog: polymorphism, linkage, locus duplication, and silent alleles.

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14.

None (1984) Genetic polymorphism and linkage of the sixth and seventh complement components (C6 and C7) in the common marmoset.

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15.

Jeremiah SJ et al. (1990) The assignment of the genes coding for human complement components C6 and C7 to chromosome 5.

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16.

Hobart MJ et al. (1978) Inherited structural variation and linkage relationships of C7.

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17.

Alvarez V et al. (1995) Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.

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18.

Coto E et al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.

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19.

NCBI article

NCBI 730 external link
20.

OMIM.ORG article

Omim 217070 external link
21.

Orphanet article

Orphanet ID 160112 external link
Update: 14. August 2020
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