Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Gerinnungsfaktor XII

Das F12-Gen kodiert den Gerinnungsfaktor 12. Es ist eine im Plasma aktivierte Serin-Protease, die eine Funktion bei der Einleitung der Gerinnung, Fibrinolyse, sowie Bradykinin- und Angiotensin-Aktivierung besitzt. Mutationen führen zum autosomal dominanten oder rezessiven Faktor 12 Mangel und zu dominantem hereditären Angioödem Typ 3.

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:

Hereditäres Angioödem 3
F12
Faktor XII-Mangel
F12

Referenzen:

1.

Biederman B et. al. (1978) Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7.

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2.

None (1978) Hageman (factor XII) locus on 7q?: report of a second case with del(7)q35 and normal factor XII level.

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3.

Miyata T et. al. (1989) Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571----Ser substitution.

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4.

Bernardi F et. al. (1987) Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme.

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5.

Cool DE et. al. (1987) Characterization of the human blood coagulation factor XII gene. Intron/exon gene organization and analysis of the 5'-flanking region.

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6.

Royle NJ et. al. (1988) Structural gene encoding human factor XII is located at 5q33-qter.

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7.

Bernardi F et. al. (1988) A frequent factor XII gene mutation in Hageman trait.

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8.

Citarella F et. al. (1988) Assignment of human coagulation factor XII (fXII) to chromosome 5 by cDNA hybridization to DNA from somatic cell hybrids.

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9.

de Grouchy J et. al. (1974) Tentative localization of a Hageman (Factor XII) locus on 7q, probably the 7q35 band.

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10.

Josso F et. al. (1968) [Probable localisation of a Hageman (factor XII) locus on an autosome].

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11.

De Grouchy J et. al. (1968) A case of?6p- chromosomal aberration.

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12.

Kawashima H et. al. (1981) Normal Hageman factor level in 7q deletion syndrome.

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13.

Hovinga JK et. al. (1994) Coagulation factor XII Locarno: the functional defect is caused by the amino acid substitution Arg 353-->Pro leading to loss of a kallikrein cleavage site.

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14.

Schloesser M et. al. (1995) The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients.

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15.

Kanaji T et. al. (1998) A common genetic polymorphism (46 C to T substitution) in the 5'-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level.

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16.

Kondo S et. al. (1999) Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation.

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17.

Binkley KE et. al. (2000) Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema.

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18.

Endler G et. al. (2001) Homozygosity for the C-->T polymorphism at nucleotide 46 in the 5' untranslated region of the factor XII gene protects from development of acute coronary syndrome.

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19.

None (2003) Oscar Ratnoff: his contributions to the golden era of coagulation research.

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20.

None (1964) AN ENZYME CASCADE IN THE BLOOD CLOTTING MECHANISM, AND ITS FUNCTION AS A BIOCHEMICAL AMPLIFIER.

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21.

Renné T et. al. (2005) Defective thrombus formation in mice lacking coagulation factor XII.

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22.

Dewald G et. al. (2006) Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.

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23.

Cichon S et. al. (2006) Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.

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24.

Maas C et. al. (2008) Misfolded proteins activate factor XII in humans, leading to kallikrein formation without initiating coagulation.

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25.

Duan QL et. al. (2009) Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema.

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26.

Calafell F et. al. (2010) Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels.

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27.

Houlihan LM et. al. (2010) Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.

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Update: 26. September 2018