Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement-Komponente C1s

Das gen C1S kodiert eine Serinprotease, welche die Komplementkomponenten C2 undC4 spalten und damit die C3-Konvertase des klassischen Weges der Komplementaktivierung bilden kann. Mutationen führen zum autosomal rezessiven C1s-Mangel oder dominantem parodontalem Ehlers-Danlos-Syndrom.

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:

Komplement C1s-Mangel
C1S
Parodontales Ehlers-Danlos-Syndrom
C1R
C1S

Referenzen:

1.

Kusumoto H et. al. (1988) Human genes for complement components C1r and C1s in a close tail-to-tail arrangement.

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2.

Tosi M et. al. (1987) Complete cDNA sequence of human complement Cls and close physical linkage of the homologous genes Cls and Clr.

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3.

Nguyen VC et. al. (1988) Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13.

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4.

Mackinnon CM et. al. (1987) Molecular cloning of cDNA for human complement component C1s. The complete amino acid sequence.

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5.

Inoue N et. al. (1998) Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.

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6.

Dragon-Durey MA et. al. (2001) Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.

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7.

Kapferer-Seebacher I et. al. (2016) Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

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