Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fibrinogen beta-Kette

Das FGB-Gen kodiert die beta-Komponente des Fibrinogens, einem wichtigen Gerinnungsfaktor. Mutationen führen zu verschiedenen autosomal dominanten oder rezessiven Gerinnungsstörungen mit Blutungs- oder Thromboseneigung.

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:

Afibrinogenämie
FGA
FGB
FGG
Dysfibrinogenemie
FGA
FGB
FGG

Referenzen:

1.

Fowkes FG et. al. (1992) Fibrinogen genotype and risk of peripheral atherosclerosis.

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2.

Koopman J et. al. (1992) Abnormal fibrinogens IJmuiden (B beta Arg14----Cys) and Nijmegen (B beta Arg44----Cys) form disulfide-linked fibrinogen-albumin complexes.

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3.

Koopman J et. al. (1992) Molecular basis of fibrinogen Naples associated with defective thrombin binding and thrombophilia. Homozygous substitution of B beta 68 Ala----Thr.

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4.

Yoshida N et. al. (1991) A new congenital abnormal fibrinogen Ise characterized by the replacement of B beta glycine-15 by cysteine.

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5.

Berg K et. al. (1989) DNA polymorphisms at fibrinogen loci and plasma fibrinogen concentration.

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6.

Humphries SE et. al. (1987) Role of genetic variation at the fibrinogen locus in determination of plasma fibrinogen concentrations.

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7.

Liu CY et. al. (1985) Characterization of fibrinogen New York 1. A dysfunctional fibrinogen with a deletion of B beta(9-72) corresponding exactly to exon 2 of the gene.

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8.

Schmelzer CH et. al. (1988) A polymorphism at B beta 448 of fibrinogen identified during structural studies of fibrinogen Baltimore II.

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9.

Meyer M et. al. (1988) A new genetic fibrinogen variant (fibrinogen Erfurt I). Structurally characterized by an abnormal B beta-chain and present both in plasma and platelets.

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10.

Ebert RF et. al. (1983) Fibrinogen Baltimore II: congenital hypodysfibrinogenemia with delayed release of fibrinopeptide B and decreased rate of fibrinogen synthesis.

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11.

Chung DW et. al. (1983) Characterization of complementary deoxyribonucleic acid and genomic deoxyribonucleic acid for the beta chain of human fibrinogen.

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12.

Tybjaerg-Hansen A et. al. (1997) A common mutation (G-455--> A) in the beta-fibrinogen promoter is an independent predictor of plasma fibrinogen, but not of ischemic heart disease. A study of 9,127 individuals based on the Copenhagen City Heart Study.

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13.

Duga S et. al. (2000) Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.

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14.

O'Donnell CJ et. al. (2001) Genetic and environmental contributions to platelet aggregation: the Framingham heart study.

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15.

Lounes KC et. al. (2001) The impaired polymerization of fibrinogen Longmont (Bbeta166Arg-->Cys) is not improved by removal of disulfide-linked dimers from a mixture of dimers and cysteine-linked monomers.

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16.

Asselta R et. al. (2002) Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia.

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17.

Spena S et. al. (2002) Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites.

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18.

Asselta R et. al. (2004) Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia.

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19.

Petzelbauer P et. al. (2005) The fibrin-derived peptide Bbeta15-42 protects the myocardium against ischemia-reperfusion injury.

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20.

Vu D et. al. (2005) Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.

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21.

Wassel CL et. al. (2011) Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).

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