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 |
Verknüpfte Erkrankungen:
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
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34. |
OMIM.ORG article
Omim 606860
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35. |
Orphanet article
Orphanet ID 118618
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36. |
Wikipedia Artikel
Wikipedia DE (C1-Esterase-Inhibitor)
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Update: 14. August 2020