Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

fibrinogen beta chain

The FGB gene encodes the beta component of fibrinogen. Mutations cause various recessive or dominant disorders of bleeding or recurrent thrombosis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Afibrinogenemia
FGA
FGB
FGG
Dysfibrinogenemia
FGA
FGB
FGG

References:

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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Update: Sept. 26, 2018