Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fibrinogen gamma-Kette

Das FGG-Gen kodiert die gamma-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.

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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