Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement-Komponente C2

Das C2-gen kodiert eine serum Glycoprotein welches eine bedeutung bei der Aktivierung der klassischen Complementkaskade besitzt. Es wird durch aktiviertes C1 in C2a und C2b gespalten. Während C2a als Anaphylatoxin wirkt setzt C2b zusammen mit C4b durch Aktivierung von C3 und C5 die Complementkaskade fort. Ein C2-Mangel ist of recht gut kompensiert, aber einige Mutationen scheinen mit Autoimmunerkrankungen und der altersabhängigen Maculadegeneration vergesellschaftet zu sein.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
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:

Komplement C2-Mangel
C2
Altersabhängige Makuladegeneration 01
APOE
ARMS2
C2
C3
CFH
CFHR1
CFHR3
KCNT2

Referenzen:

1.

Maller J et. al. (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.

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2.

Gold B et al. (2006) Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.

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3.

Wolski KP et. al. (1976) Genetic linkage between the HL-A system and a deficit of the second component (C2) of complement in four generations of a family.

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4.

Day NK et al. (1976) Linkage of gene for C2 deficiency and the major histocompatibility complex MHC in man. Family study of a further case.

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5.

Johnson CA et. al. (1992) Molecular heterogeneity of C2 deficiency.

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6.

Jönsson G et al. (2005) Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease.

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7.

Johnson CA et. al. (1992) Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing.

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8.

Saevarsdottir S et al. (2007) Mannan-binding lectin may facilitate the clearance of circulating immune complexes--implications from a study on C2-deficient individuals.

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9.

Hussain A et al. (2007) C2 deficiency primary meningococcal arthritis of the elbow by Neisseria meningitidis serogroup Y in a 12-year old girl.

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10.

Yuste J et al. (2010) Impaired opsonization with complement and phagocytosis of Streptococcus pyogenes in sera from subjects with inherited C2 deficiency.

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11.

Hauck F et al. (2011) Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: treatment with rituximab.

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12.

Jönsson G et al. (2012) Vaccination against encapsulated bacteria in hereditary C2 deficiency results in antibody response and opsonization due to antibody-dependent complement activation.

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13.

Miller EC et al. (2012) Overcoming C2 deficiency.

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14.

None (1986) Primary structure of human complement component C2. Homology to two unrelated protein families.

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15.

Dunham I et. al. (1987) Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis.

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16.

Raum D et al. (1979) Mapping of the structural gene for the second component of complement with respect to the human major histocompatibility complex.

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17.

Dewald G et al. (1979) Polymorphism of the second component of human complement (C2). Observation of the rare phenotype (C2 2 (= C2 B) and data on the localization of the C2 locus in the HLA region.

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18.

Fu SM et al. (1974) Evidence for linkage between HL-A histocompatibility genes and those involved in the synthesis of the second component of complement.

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19.

et al. (1968) Nomenclature of complement.

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20.

Bentley DR et. al. (1984) Isolation of cDNA clones for human complement component C2.

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21.

Tokunaga K et al. (1982) Polymorphism of properdin factor B in Japanese. Description of a rare variant and data of association with HLA and C2.

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22.

Tokunaga K et al. (1981) Genetic polymorphism of the complement C2 in Japanese.

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23.

Wetsel RA et. al. (1996) Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion.

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24.

Alper CA et al. (1976) Inherited structural polymorphism in human C2: evidence for genetic linkage between C2 and Bf.

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25.

Raum D et al. (1976) The chromosomal order of genes controlling the major histocompatibility complex, properdin factor B, and deficiency of the second component of complement.

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