Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Komplement-Komponente C1r

Das C1R-Gen befindet sich unmittelbar neben dem C1S-Gen in einer Schwanz-zu-Schwanz Position. Somit sind genübergreifende Deletionen beider Genaebeopbachtet wurden, die einen kombinierten C1s/C1r-Mangel hervorrufen können. Mutationen führen auch zu 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 C1r/C1s-Mangel
C1R
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.

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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5.

Ohi H et. al. (1986) Two cases of mesangiocapillary glomerulonephritis with CR1 deficiency.

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6.

Kamboh MI et. al. (1989) Genetic studies of low-abundance human plasma proteins. XIII. Population genetics of C1R complement subcomponent and description of new variants.

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7.

Lyons LA et. al. (1989) Genetic studies of low-abundance human plasma proteins. XI. Linkage analysis and population genetics of the C1S subcomponent of the first complement component.

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8.

Leytus SP et. al. (1986) Nucleotide sequence of the cDNA coding for human complement C1r.

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9.

Kamboh MI et. al. (1986) Genetic studies of low abundance human plasma proteins. III. Polymorphism of the C1R subcomponent of the first complement component.

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10.

Journet A et. al. (1986) Cloning and sequencing of full-length cDNA encoding the precursor of human complement component C1r.

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11.

Kamboh MI et. al. (1988) Genetic studies of low-abundance human plasma proteins. IX. A new allele at the complement subcomponent C1R structural locus.

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