Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
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:

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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