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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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2. |
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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3. |
Vu D et al. (2005) Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.
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4. |
Petzelbauer P et al. (2005) The fibrin-derived peptide Bbeta15-42 protects the myocardium against ischemia-reperfusion injury.
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5. |
Asselta R et al. (2004) Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia.
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6. |
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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7. |
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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8. |
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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9. |
O'Donnell CJ et al. (2001) Genetic and environmental contributions to platelet aggregation: the Framingham heart study.
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10. |
Duga S et al. (2000) Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.
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11. |
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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12. |
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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13. |
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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14. |
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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15. |
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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16. |
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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17. |
Humphries SE et al. (1987) Role of genetic variation at the fibrinogen locus in determination of plasma fibrinogen concentrations.
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18. |
Berg K et al. (1989) DNA polymorphisms at fibrinogen loci and plasma fibrinogen concentration.
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19. |
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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20. |
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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21. |
Fowkes FG et al. (1992) Fibrinogen genotype and risk of peripheral atherosclerosis.
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22. |
Orphanet article
Orphanet ID 121788
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23. |
NCBI article
NCBI 2244
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24. |
OMIM.ORG article
Omim 134830
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Update: 14. August 2020