Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement-Komponente C5

Das C5-Gen kodiert die Komplement-Komponente C5, die eine wichtige Rolle bei der Aktivierung des Membran-Attack-Complexes (MAC) spielt. Da dieses protein der Angriffspunkt des Medikamentes Eculizumab spielt, sind bereits genetische Variationen entdeckt worden, die das Ansprechen auf den im Eculizumab vorhandenen monoklonalen Antikörper beeinflussen können. Des weiteren sind Assoziationen von Variationen mit Leberfibrose und rheumatischer Arthrtis beschrieben.

Diagnostik:

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

Krankheiten:

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

Referenzen:

1.

Tack BF et. al. (1979) Fifth component of human complement: purification from plasma and polypeptide chain structure.

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2.

Carney DF et. al. (1991) Structural aspects of the human C5 gene. Intron/exon organization, 5'-flanking region features, and characterization of two truncated cDNA clones.

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3.

Haviland DL et. al. (1991) Complete cDNA sequence of human complement pro-C5. Evidence of truncated transcripts derived from a single copy gene.

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4.

Wetsel RA et. al. (1990) Deficiency of the murine fifth complement component (C5). A 2-base pair gene deletion in a 5'-exon.

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5.

Jeremiah SJ et. al. (1988) The assignment of the human gene coding for complement C5 to chromosome 9q22-9q33.

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6.

Wetsel RA et. al. (1988) Molecular analysis of human complement component C5: localization of the structural gene to chromosome 9.

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7.

Gavett SH et. al. (1995) Interleukin 12 inhibits antigen-induced airway hyperresponsiveness, inflammation, and Th2 cytokine expression in mice.

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8.

Wang X et. al. (1995) Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.

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9.

None (1997) A genome-wide search for asthma susceptibility loci in ethnically diverse populations. The Collaborative Study on the Genetics of Asthma (CSGA).

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10.

Ober C et. al. (1998) Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma.

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11.

Wjst M et. al. (1999) A genome-wide search for linkage to asthma. German Asthma Genetics Group.

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12.

Karp CL et. al. (2000) Identification of complement factor 5 as a susceptibility locus for experimental allergic asthma.

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13.

Hillebrandt S et. al. (2002) Genome-wide analysis of hepatic fibrosis in inbred mice identifies the susceptibility locus Hfib1 on chromosome 15.

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14.

Delgado-Cerviño E et. al. (2005) C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect.

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15.

Pfarr N et. al. (2005) Linking C5 deficiency to an exonic splicing enhancer mutation.

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16.

Peng T et. al. (2005) Role of C5 in the development of airway inflammation, airway hyperresponsiveness, and ongoing airway response.

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17.

Hillebrandt S et. al. (2005) Complement factor 5 is a quantitative trait gene that modifies liver fibrogenesis in mice and humans.

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18.

Pickering MC et al. (2006) Prevention of C5 activation ameliorates spontaneous and experimental glomerulonephritis in factor H-deficient mice.

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19.

Plenge RM et. al. (2007) TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

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20.

Halangk J et. al. (2008) Evaluation of complement factor 5 variants as genetic risk factors for the development of advanced fibrosis in chronic hepatitis C infection.

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21.

Nishimura J et. al. (2014) Genetic variants in C5 and poor response to eculizumab.

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