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Zentrum für Nephrologie und Stoffwechsel
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Komplement-Komponente C9

Das C9-Gen kodiert die Complement Komponente 9. Diese ist am Membrane Attack Complex (MAC) beteiigt, welcher am Ende der Complementkaskade zur Auflösung der Zielbakterien führt. Mutationen können zu einem Mangel führen, wobei allerdings noch nicht klar ist, welchen Krankheitswert einem solchen Mangel zukommt.

Gentests:

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

Verknüpfte Erkrankungen:

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

Referenzen:

1.

Ichikawa E et al. (2001) Hereditary complement (C9) deficiency associated with dermatomyositis.

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2.

Kira R et al. (1998) Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency.

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3.

Setién F et al. (1993) A physical map of the human complement component C6, C7, and C9 genes.

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4.

DiScipio RG et al. (1984) Nucleotide sequence of cDNA and derived amino acid sequence of human complement component C9.

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5.

Marazziti D et al. (1988) Relationships between the gene and protein structure in human complement component C9.

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6.

Rogne S et al. (1989) The gene for human complement C9 is on chromosome 5.

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7.

Shiver JW et al. (1986) The ninth component of human complement (C9). Functional activity of the b fragment.

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8.

Rogne S et al. (1991) The human genes for complement components 6 (C6) and 9 (C9) are closely linked on chromosome 5.

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9.

Khajoee V et al. (2003) Founder effect of the C9 R95X mutation in Orientals.

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10.

Witzel-Schlömp K et al. (1998) Heterogeneity in the genetic basis of human complement C9 deficiency.

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11.

Horiuchi T et al. (1998) A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese.

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12.

Hobart MJ et al. (1997) Difficulties in the ascertainment of C9 deficiency: lessons to be drawn from a compound heterozygote C9-deficient subject.

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13.

Witzel-Schlömp K et al. (1997) The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure.

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14.

Abbott C et al. (1989) The gene for human complement component C9 mapped to chromosome 5 by polymerase chain reaction.

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15.

Zoppi M et al. (1990) Recurrent meningitis in a patient with congenital deficiency of the C9 component of complement. First case of C9 deficiency in Europe.

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16.

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

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17.

OMIM.ORG article

Omim 120940 external link
18.

Orphanet article

Orphanet ID 160126 external link
19.

NCBI article

NCBI 735 external link
20.

Wikipedia Artikel

Wikipedia DE (Komplementkomponente_C9) external link
Update: 14. August 2020
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