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 |
Verknüpfte Erkrankungen:
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
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20. |
OMIM.ORG article
Omim 217070
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21. |
Orphanet article
Orphanet ID 160112
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Update: 14. August 2020