Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

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

Krankheiten:

Komplement C4A-Mangel
C4A
Hereditäres Angioödem
SERPING1

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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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7.

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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8.

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

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9.

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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10.

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

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11.

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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12.

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

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13.

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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14.

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

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15.

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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16.

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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17.

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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18.

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

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19.

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

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20.

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

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21.

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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22.

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

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23.

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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24.

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

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25.

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

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26.

Cicardi M et. al. (1996) Hereditary angioedema.

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27.

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

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28.

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

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29.

None (1961) Chronic familial giant urticaria.

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30.

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

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31.

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

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32.

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

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