Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Gerinnungsfaktor XIII B

Der Gerinnungsfaktor XIII ist ein Heterotetramer, welches aus 2 A- und 2 B-Untereinheiten besteht. Das F13A1-Gen kodiert die A-Untereinheit. Die Funktion des Faktors XIII besteht in der Stabilisierung von Fibringerinseln. Mutationen führen zum autosomal rezessiven Faktor XIII-Mangel mit Gerinnungs- und Wundheilungsstörungen.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
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:

Faktor XIII B-Mangel
F13B

Referenzen:

1.

Hing S et al. (1988) Assignment of complement components C4 binding protein (C4BP) and factor H (FH) to human chromosome 1q, using cDNA probes.

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2.

Koseki S et al. (2001) Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation.

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3.

Reiner AP et al. (2003) Genetic variants of coagulation factor XIII, postmenopausal estrogen therapy, and risk of nonfatal myocardial infarction.

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4.

Komanasin N et al. (2005) A novel polymorphism in the factor XIII B-subunit (His95Arg): relationship to subunit dissociation and venous thrombosis.

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5.

Saito M et al. (1990) A familial factor XIII subunit B deficiency.

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6.

Grundmann U et al. (1990) Complete cDNA sequence encoding the B subunit of human factor XIII.

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7.

Webb GC et al. (1989) Localization of the coagulation factor XIII B subunit gene (F13B) to chromosome bands 1q31-32.1 and restriction fragment length polymorphism at the locus.

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8.

Takahashi N et al. (1986) Primary structure of blood coagulation factor XIIIa (fibrinoligase, transglutaminase) from human placenta.

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9.

Ichinose A et al. (1986) Amino acid sequence of the b subunit of human factor XIII, a protein composed of ten repetitive segments.

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10.

Rodriguez de Cordoba S et al. (1988) Coagulation factor XIII B subunit is encoded by a gene linked to the regulator of complement activation (RCA) gene cluster in man.

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11.

Kamboh MI et al. (1986) Genetic studies of low abundance human plasma proteins. II. Population genetics of coagulation factor XIIIB.

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12.

Bender K et al. (1987) Coagulation factor XIII: genetic linkage studies with F13B.

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13.

Eiberg H et al. (1985) Cystic fibrosis; hint of linkage with F13B.

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14.

Board PG et al. (1984) Genetic heterogeneity of the B subunit of coagulation factor XIII: resolution of type 2.

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15.

Kera Y et al. (1981) Genetic polymorphism of the B subunit of human coagulation factor XIII: another classification.

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16.

Nakamura S et al. (1982) Genetic polymorphism of coagulation factor XIIIB subunit in Japanese.

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17.

Board PG et al. (1980) Genetic polymorphism of the B subunit of human coagulation factor XIII.

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18.

Hashiguchi T et al. (1993) Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII.

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19.

Nonaka M et al. (1993) Molecular cloning of the b subunit of mouse coagulation factor XIII and assignment of the gene to chromosome 1: close evolutionary relationship to complement factor H.

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20.

Izumi T et al. (1996) Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain.

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