Komplement-Komponente C8, B-Kette
Das C8B-Gen kodiert die beta 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. Mutationen sind für den autosomal rezessiven Complementfaktor 8-Mangel Typ 2 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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2. |
Rogde S et al. (1986) The C8A and C8B loci are closely linked on chromosome 1.
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3. |
Saucedo L et al. (1995) Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis.
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4. |
Kaufmann T et al. (1993) Genetic basis of human complement C8 beta deficiency.
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5. |
Bahary N et al. (1991) Molecular genetic linkage maps of mouse chromosomes 4 and 6.
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6. |
Arnold DF et al. (2009) A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis.
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7. |
Herrmann D et al. (1989) DNA polymorphism of the human complement C8 beta gene: formal genetics and intragenic localization.
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8. |
Kaufmann T et al. (1993) The human complement component C8B gene: structure and phylogenetic relationship.
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9. |
Orphanet article
Orphanet ID 160119
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10. |
NCBI article
NCBI 732
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11. |
OMIM.ORG article
Omim 120960
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Update: 14. August 2020