Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Heparin-Kofaktor 2

Das SERPIND1-Gen kodiert ein Serpin, welches in der Regulation der Blutgerinnung als Heparin-Kofaktor fungiert. Mutationen verursachen eine Thrombophilie aufgrund des Heparin-Kofaktor 2-Mangels.

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:

Thrombophilie durch Heparin-Kofaktor 2-Mangel
SERPIND1

Referenzen:

1.

Herzog R et. al. (1991) Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11.

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2.

Andersson TR et. al. (1987) Low heparin cofactor II associated with abnormal crossed immunoelectrophoresis pattern in two Norwegian families.

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3.

Blinder MA et. al. (1989) Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate.

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4.

Blinder MA et. al. (1988) Heparin cofactor II: cDNA sequence, chromosome localization, restriction fragment length polymorphism, and expression in Escherichia coli.

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5.

None (1986) A new member of the plasma protease inhibitor gene family.

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6.

Kondo S et. al. (1996) Molecular and cellular basis for type I heparin cofactor II deficiency (heparin cofactor II Awaji).

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7.

Bernardi F et. al. (1996) A heparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects.

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8.

Kanagawa Y et. al. (2001) Molecular mechanism of type I congenital heparin cofactor (HC) II deficiency caused by a missense mutation at reactive P2 site: HC II Tokushima.

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9.

Aihara K et. al. (2004) Heparin cofactor II is a novel protective factor against carotid atherosclerosis in elderly individuals.

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10.

Vicente CP et. al. (2007) Accelerated atherogenesis and neointima formation in heparin cofactor II deficient mice.

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