Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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 Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Target mutation analysis
Turnaround 5 days
Specimen type genomic DNA

Related Diseases:

Afibrinogenemia
FGA
FGB
FGG
Dysfibrinogenemia
FGA
FGB
FGG

References:

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 external link
23.

NCBI article

NCBI 2244 external link
24.

OMIM.ORG article

Omim 134830 external link
25.

Wikipedia article

Wikipedia EN (Fibrinogen_beta_chain) external link
Update: Aug. 14, 2020
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