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Plasmaprotease C1-Inhibitor

Das SERPING1-Gen kodiert einen Inhibitor der Komplementfaktoren C1r und C1s am beginn der Komplementkaskade. Mutationen führen zu autosomal dominantem angioneurotischem Ödem Typ 1 und 2 und zu partiellem Komplement C4-Mangel.

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
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Komplement C4A-Mangel
C4A
Hereditäres Angioödem 1
SERPING1
Hereditäres Angioödem 2
SERPING1

Referenzen:

1.

Levy NJ et al. (1990) Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.

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2.

Roche O et al. (2005) Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.

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3.

Kalmár L et al. (2005) HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene.

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4.

Lener M et al. (1998) The C1 inhibitor encoding gene (C1nh) maps to mouse Chromosome 2

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5.

Siddique Z et al. (1993) C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema.

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6.

Zahedi K et al. (1993) Structure and regulation of the C1 inhibitor gene.

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7.

Cox DW et al. (1985) Direct assignment of orosomucoid to human chromosome 9 and alpha 2HS-glycoprotein to chromosome 3 using human fetal liver x rat hepatoma hybrids.

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8.

Bock SC et al. (1986) Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization.

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9.

Davis AE et al. (1986) Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11.

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10.

Carter PE et al. (1988) Genomic and cDNA cloning of the human C1 inhibitor. Intron-exon junctions and comparison with other serpins.

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11.

Aulak KS et al. (1988) Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation.

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12.

Cicardi M et al. (1987) Restriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema.

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13.

Skriver K et al. (1989) CpG mutations in the reactive site of human C1 inhibitor.

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14.

Aulak KS et al. (1990) Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.

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15.

Ariga T et al. (1990) Recombinations between Alu repeat sequences that result in partial deletions within the C1 inhibitor gene.

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16.

Frangi D et al. (1991) Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema.

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17.

McPhaden AR et al. (1991) Restriction fragment length polymorphism analysis of the C1-inhibitor gene in hereditary C1-inhibitor deficiency.

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18.

Stoppa-Lyonnet D et al. (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.

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19.

Theriault A et al. (1990) Regional assignment of the human C1-inhibitor gene to 11q11-q13.1.

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20.

Ariga T et al. (1989) Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon.

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21.

Stoppa-Lyonnet D et al. (1987) Altered C1 inhibitor genes in type I hereditary angioedema.

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22.

Cicardi M et al. (1987) Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema.

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23.

None (1973) The genetics of hereditary angioedema: a hypothesis.

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24.

Cicardi M et al. (1996) Hereditary angioedema.

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25.

Verpy E et al. (1996) Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.

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26.

None (1961) Chronic familial giant urticaria.

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27.

Guarino S et al. (2006) Gonadal mosaicism in hereditary angioedema.

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28.

Zahedi R et al. (1995) Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.

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29.

Siddique Z et al. (1992) A single base deletion from the C1-inhibitor gene causes type I hereditary angio-oedema.

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30.

Davis AE et al. (1992) C1 inhibitor hinge region mutations produce dysfunction by different mechanisms.

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31.

Stoppa-Lyonnet D et al. (1991) Recombinational biases in the rearranged C1-inhibitor genes of hereditary angioedema patients.

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32.

Siddique Z et al. (1991) An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema.

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33.

NCBI article

NCBI 710 external link
34.

OMIM.ORG article

Omim 606860 external link
35.

Orphanet article

Orphanet ID 118618 external link
36.

Wikipedia Artikel

Wikipedia DE (C1-Esterase-Inhibitor) external link
Update: 14. August 2020
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