Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

fibrinogen gamma chain

The FGG gene encodes the gamma 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.

Martinez J et al. (1974) Fibrinogen Philadelphia. A hereditary hypodysfibrinogenemia characterized by fibrinogen hypercatabolism.

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2.

Bolliger-Stucki B et al. (2001) Fibrinogen Milano XII: a dysfunctional variant containing 2 amino acid substitutions, Aalpha R16C and gamma G165R.

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3.

Kant JA et al. (1985) Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion.

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4.

Beck EA et al. (1965) A new inherited coagulation disorder caused by an abnormal fibrinogen ('fibrinogen Baltimore').

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5.

Olaisen B et al. (1982) Fibrinogen gamma chain locus is on chromosome 4 in man.

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6.

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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7.

Brown CH et. al. (1975) Defective alpha-polymerization in the conversion of fibrinogen Baltimore to fibrin.

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8.

Mosesson MW et. al. (1976) Studies on the structural abnormality of fibrinogen Paris I.

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9.

Yoshida N et. al. (1992) Heterozygous abnormal fibrinogen Osaka III with the replacement of gamma arginine-275 by histidine has an apparently higher molecular weight gamma-chain variant.

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10.

Castaman G et. al. (1992) Failure of DDAVP to shorten the prolonged bleeding time of two patients with congenital afibrinogenemia.

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11.

Yoshida N et. al. (1992) Characterization of an abnormal fibrinogen Osaka V with the replacement of gamma-arginine 375 by glycine. The lack of high affinity calcium binding to D-domains and the lack of protective effect of calcium on fibrinolysis.

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12.

Koopman J et. al. (1991) A congenitally abnormal fibrinogen (Vlissingen) with a 6-base deletion in the gamma-chain gene, causing defective calcium binding and impaired fibrin polymerization.

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13.

Bantia S et. al. (1990) Fibrinogen Baltimore I: polymerization defect associated with a gamma 292Gly--Val (GGC--GTC) mutation.

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14.

Bantia S et. al. (1990) Polymerization defect of fibrinogen Baltimore III due to a gamma Asn308----Ile mutation.

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15.

Yamazumi K et. al. (1989) A gamma methionine-310 to threonine substitution and consequent N-glycosylation at gamma asparagine-308 identified in a congenital dysfibrinogenemia associated with posttraumatic bleeding, fibrinogen Asahi.

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16.

Siebenlist KR et. al. (1989) The polymerization of fibrin prepared from fibrinogen Haifa (gamma 275Arg----His).

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17.

Schmelzer CH et. al. (1989) Fibrinogen Baltimore IV: congenital dysfibrinogenemia with a gamma 275 (Arg----Cys) substitution.

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18.

Fernández FJ et. al. (1989) Fibrinogen Sevilla, a congenital dysfibrinogenemia characterized by an abnormal monomer aggregation and a defective plasmin lysis.

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19.

Miyata T et. al. (1989) Fibrinogen Nagoya, a replacement of glutamine-329 by arginine in the gamma-chain that impairs the polymerization of fibrin monomer.

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20.

Terukina S et. al. (1989) Fibrinogen Kyoto III: a congenital dysfibrinogen with a gamma aspartic acid-330 to tyrosine substitution manifesting impaired fibrin monomer polymerization.

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21.

Terukina S et. al. (1988) Substitution of gamma Arg-275 by Cys in an abnormal fibrinogen, "fibrinogen Osaka II". Evidence for a unique solitary cystine structure at the mutation site.

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22.

Yoshida N et. al. (1988) Characterization of an apparently lower molecular weight gamma-chain variant in fibrinogen Kyoto I. The replacement of gamma-asparagine 308 by lysine which causes accelerated cleavage of fragment D1 by plasmin and the generation of a new plasmin cleavage site.

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23.

Yamazumi K et. al. (1988) Normal plasmic cleavage of the gamma-chain variant of "fibrinogen Saga" with an Arg-275 to His substitution.

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24.

Rixon MW et. al. (1985) Nucleotide sequence of the gene for the gamma chain of human fibrinogen.

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25.

Ebert RF et. al. (1988) Fibrinogen Baltimore III: congenital dysfibrinogenemia with a shortened gamma-subunit.

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26.

Yoshida N et. al. (1988) An apparently higher molecular weight gamma-chain variant in a new congenital abnormal fibrinogen Tochigi characterized by the replacement of gamma arginine-275 by cysteine.

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27.

Reber P et. al. (1986) Three abnormal fibrinogen variants with the same amino acid substitution (gamma 275 Arg----His): fibrinogens Bergamo II, Essen and Perugia.

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28.

Reber P et. al. (1986) Characterization of fibrinogen Milano I: amino acid exchange gamma 330 Asp----Val impairs fibrin polymerization.

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29.

Yoshida N et. al. (1986) A lower molecular weight gamma-chain variant in a congenital abnormal fibrinogen (Kyoto).

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30.

Ebert RF et. al. (1985) Fibrinogen Baltimore IV: congenital dysfibrinogenemia with delayed fibrin monomer polymerization.

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31.

Budzynski AZ et. al. (1974) Defect in the gamma polypeptide chain of a congenital abnormal fibrinogen (Paris I).

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32.

Fornace AJ et. al. (1984) Structure of the human gamma-fibrinogen gene. Alternate mRNA splicing near the 3' end of the gene produces gamma A and gamma B forms of gamma-fibrinogen.

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33.

Hawiger J et. al. (1982) gamma and alpha chains of human fibrinogen possess sites reactive with human platelet receptors.

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34.

Brook JG et. al. (1983) Fibrinogen "Haifa" - a new fibrinogen variant. A case report.

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35.

Matsuda M et. al. (1983) "Fibrinogen Tokyo II". An abnormal fibrinogen with an impaired polymerization site on the aligned DD domain of fibrin molecules.

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36.

Crabtree GR et. al. (1982) Organization of the rat gamma-fibrinogen gene: alternative mRNA splice patterns produce the gamma A and gamma B (gamma ') chains of fibrinogen.

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37.

Mosesson MW et. al. (1995) The role of fibrinogen D domain intermolecular association sites in the polymerization of fibrin and fibrinogen Tokyo II (gamma 275 Arg-->Cys).

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38.

Haverkate F et al. (1995) Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen.

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39.

Rosenberg JB et. al. (1993) Paris I dysfibrinogenemia: a point mutation in intron 8 results in insertion of a 15 amino acid sequence in the fibrinogen gamma-chain.

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40.

Okumura N et. al. (1996) Fibrinogen Matsumoto I: a gamma 364 Asp>His (GAT>CAT) substitution associated with defective fibrin polymerization.

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41.

Okumura N et. al. (1997) Severely impaired polymerization of recombinant fibrinogen gamma-364 Asp --> His, the substitution discovered in a heterozygous individual.

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42.

Asselta R et. al. (2000) Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation.

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43.

Margaglione M et. al. (2000) A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing.

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44.

Lounes KC et. al. (2000) Fibrinogen Alès: a homozygous case of dysfibrinogenemia (gamma-Asp(330)-->Val) characterized by a defective fibrin polymerization site "a".

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45.

Mullin JL et. al. (2002) Fibrinogen Hillsborough: a novel gammaGly309Asp dysfibrinogen with impaired clotting.

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46.

Keller MA et. al. (2005) Fibrinogen Philadelphia, a hypodysfibrinogenemia characterized by abnormal polymerization and fibrinogen hypercatabolism due to gamma S378P mutation.

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47.

Liu W et. al. (2006) Fibrin fibers have extraordinary extensibility and elasticity.

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48.

Spena S et. al. (2007) Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia.

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Update: Sept. 26, 2018