Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fibrinogen alpha-Kette

Das FGA-Gen kodiert die alpha-Komponente des Fibrinogens, einem wichtigen Gerinnungsfaktor. Mutationen führen zu verschiedenen autosomal dominanten oder rezessiven Gerinnungsstörungen mit Blutungs- oder Thromboseneigung. Andere Mutationen können eine autosomal dominante viszeralen Amyloidose auslösen.

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:

Nierenamyloidose
APOA1
B2M
CST3
FGA
LYZ
Afibrinogenämie
FGA
FGB
FGG
Dysfibrinogenemie
FGA
FGB
FGG

Referenzen:

1.

Lachmann HJ et al. (2002) Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

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2.

Gralnick HR et al. (1979) Fibrinogen bethesda III: a hypodysfibrinogenemia.

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3.

Neerman-Arbez M et al. (1999) The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster.

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4.

Neerman-Arbez M et al. (2000) Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia.

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5.

Carter AM et al. (2000) alpha-fibrinogen Thr312Ala polymorphism and venous thromboembolism.

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6.

Collen A et al. (2001) Aberrant fibrin formation and cross-linking of fibrinogen Nieuwegein, a variant with a shortened Aalpha-chain, alters endothelial capillary tube formation.

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7.

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

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8.

Drew AF et al. (2001) Wound-healing defects in mice lacking fibrinogen.

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9.

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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10.

Asselta R et al. (2001) Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs.

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11.

Akassoglou K et al. (2002) Fibrin inhibits peripheral nerve remyelination by regulating Schwann cell differentiation.

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12.

Vlietman JJ et al. (2002) Congenital afibrinogenaemia in a newborn infant due to a novel mutation in the fibrinogen aalpha gene.

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13.

IMPERATO C et al. (1958) [Congenital hypofibrinogenemia with fibrinoasthenia].

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14.

Koopman J et al. (1992) Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA-->stop TAA).

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15.

HASSELBACK R et al. (1963) Congenital hypofibrinogenemia in five members of a family.

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16.

Fu Y et al. (1992) Carboxy-terminal-extended variant of the human fibrinogen alpha subunit: a novel exon conferring marked homology to beta and gamma subunits.

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17.

Lefebvre P et al. (2004) Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk).

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18.

Maekawa H et al. (1992) Fibrinogen Lima: a homozygous dysfibrinogen with an A alpha-arginine-141 to serine substitution associated with extra N-glycosylation at A alpha-asparagine-139. Impaired fibrin gel formation but normal fibrin-facilitated plasminogen activation catalyzed by tissue-type plasminogen activator.

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19.

Ko YL et al. (2006) Functional polymorphisms of FGA, encoding alpha fibrinogen, are associated with susceptibility to venous thromboembolism in a Taiwanese population.

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20.

Maekawa H et al. (1991) An A alpha Ser-434 to N-glycosylated Asn substitution in a dysfibrinogen, fibrinogen Caracas II, characterized by impaired fibrin gel formation.

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21.

Flood VH et al. (2006) The fibrinogen Aalpha R16C mutation results in fibrinolytic resistance.

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22.

Mourad G et al. (2008) Cardiac amyloidosis with the E526V mutation of the fibrinogen A alpha-chain.

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23.

Lee MH et al. (1991) Fibrinogen Ledyard (A alpha Arg16----Cys): biochemical and physiologic characterization.

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24.

Yoshida N et al. (1991) Fibrinogen Kyoto II, a new congenitally abnormal molecule, characterized by the replacement of A alpha proline-18 by leucine.

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25.

Arocha-Piñango CL et al. (1990) Fibrinogen Lima. A new dysfibrinogenaemia with a high-molecular-weight alpha-chain and effective polymerization.

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26.

Galanakis DK et al. (1989) Fibrinogen Stony Brook, a heterozygous A alpha 16Arg----Cys dysfibrinogenemia. Evaluation of diminished platelet aggregation support and of enhanced inhibition of fibrin assembly.

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27.

Hamsten A et al. (1987) Genetic and cultural inheritance of plasma fibrinogen concentration.

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28.

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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29.

Siebenlist KR et al. (1988) Fibrinogen Birmingham: a heterozygous dysfibrinogenemia (A alpha 16 Arg----His) containing heterodimeric molecules.

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30.

Reber P et al. (1987) Fibrinogen Bergamo III and fibrinogen Torino: two further variants with hereditary molecular defects in fibrinopeptide A.

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31.

Alving BM et al. (1987) Fibrinogen giessen I: a congenital homozygously expressed dysfibrinogenemia with A alpha 16 Arg----His substitution.

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32.

Miyata T et al. (1987) Fibrinogens Kawaguchi and Osaka: an amino acid substitution of A alpha arginine-16 to cysteine which forms an extra interchain disulfide bridge between the two A alpha chains.

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33.

Ebert RF et al. (1986) Fibrinogen Seattle II: congenital dysfibrinogenemia with an Arg (A alpha 16)----his substitution.

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34.

Marino MW et al. (1986) Chromosomal localization of human and rat A alpha, B beta, and gamma fibrinogen genes by in situ hybridization.

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35.

Davison AM et al. (1985) The United Kingdom Medical Research Council's glomerulonephritis registry.

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36.

Southan C et al. (1985) Fibrinogen Manchester. Detection of a heterozygous phenotype in the intraplatelet pool.

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37.

Reber P et al. (1985) Fibrinogen Bergamo I (A alpha 16Arg----Cys): susceptibility towards thrombin following aminoethylation, methylation or carboxamidomethylation of cysteine residues.

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38.

Soria J et al. (1985) Episodes of increased fibronectin level observed in a patient suffering from recurrent thrombosis related to congenital hypodysfibrinogenaemia (fibrinogen Malmoe).

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39.

Aznar J et al. (1974) Fibrinogen Valencia. A new case of congenital dysfibrinogenemia.

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40.

Samama M et al. () [Congenital and familial dysfibrinogenemia without hemorrhagic tendancy].

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41.

Blomback B et al. () Molecular defects and variants of fibrinogen.

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42.

Marder VJ et al. (1974) Fibrinogen and its derivatives, hereditary and acquired abnormalities.

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43.

Hampton JW et al. (1972) Fibrinogen and fibrin-stabilizing factor.

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44.

Ratnoff OD et al. (1973) The genetics of hereditary disorders of blood coagulation.

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45.

Soria J et al. (1972) Fibrinogen Troyes--fibrinogen Metz. Two new cases of congenital dysfibrinogenemia.

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46.

Doolittle RF et al. (1974) Platelet and plasma fibrinogens are identical gene products.

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47.

Verhaeghe R et al. (1974) Fibrinogen 'Leuven', another genetic variant.

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48.

Crum ED et al. (1974) Fibrinogen Cleveland II. An abnormal fibrinogen with defective release of fibrinopeptide A.

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49.

Streiff F et al. (1971) [A new case of Congenital and familial dysfibrinogenemia without Hemorrhagic Diathesis].

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50.

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

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51.

Mammen EF et al. (1969) Congenital dysfibrinogenemia: fibrinogen Detroit.

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52.

Doolittle RF et al. (1970) The molecular constancy of fibrinopeptides A and B from 125 individual humans.

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53.

Gralnick HR et al. (1972) Congenital dysfibrinogenemias.

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54.

Gralnick HR et al. (1971) Fibrinogen Bethesda: a congenital dysfibrinogenemia with delayed fibrinopeptide release.

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55.

Beck EA et al. (1971) Functional evaluation of an inherited abnormal fibrinogen: fibrinogen "Baltimore".

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56.

Blombäck M et al. (1968) Fibrinogen Detroit--a molecular defect in the N-terminal disulphide knot of human fibrinogen?

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57.

Forman WB et al. (1968) An inherited qualitative abnormality in plasma fibrinogen: fibrinogen Cleveland.

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58.

Jackson DP et al. () Congenital disorders of fibrinogen.

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59.

Von Felten A et al. (1966) Familial disturbance of fibrin monomer aggregation.

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60.

Henry I et al. (1984) The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2.

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61.

Crabtree GR et al. (1981) Molecular cloning of cDNA for the alpha, beta, and gamma chains of rat fibrinogen. A family of coordinately regulated genes.

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62.

Jandrot-Perrus M et al. (1982) Fibrinogen Bondy: a new case of dysfibrinogenemia. Isolation of the abnormal fibrinogen molecules.

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63.

di Minno G et al. (1981) Effects of any epoxymethano stable analogue of prostaglandin endoperoxides (U-46619) on human platelets.

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64.

Kant JA et al. (1983) The rat fibrinogen genes. Linkage of the A alpha and gamma chain genes.

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65.

Uzan G et al. (1984) Analysis of fibrinogen genes in patients with congenital afibrinogenemia.

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66.

Humphries SE et al. (1984) The identification of a DNA polymorphism of the alpha fibrinogen gene, and the regional assignment of the human fibrinogen genes to 4q26-qter.

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67.

Soria J et al. (1983) Plasminogen Paris I: congenital abnormal plasminogen and its incidence in thrombosis.

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68.

Wehinger H et al. (1983) Hereditary hypofibrinogenemia with fibrinogen storage in the liver.

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69.

Henschen A et al. (1983) Novel structure elucidation strategy for genetically abnormal fibrinogens with incomplete fibrinopeptide release as applied to fibrinogen Schwarzach.

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70.

Crabtree GR et al. (1982) Coordinate accumulation of the mRNAs for the alpha, beta, and gamma chains of rat fibrinogen following defibrination.

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71.

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

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72.

Higgins DL et al. (1981) Fibrinogen Petoskey, a dysfibrinogenemia characterized by replacement of Arg-A alpha 16 by a histidyl residue. Evidence for thrombin-catalyzed hydrolysis at a histidyl residue.

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73.

McDonagh RP et al. (1980) Fibrinogen Chapel Hill: hypodysfibrinogenemia with a tertiary polymerization defect.

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74.

Godal HC et al. (1978) Three new cases of an inborn qualitative fibrinogen defect (fibrinogen Oslo II).

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75.

Suh TT et al. (1995) Resolution of spontaneous bleeding events but failure of pregnancy in fibrinogen-deficient mice.

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76.

Thomas A et al. (1994) Linkage disequilibrium across the fibrinogen locus as shown by five genetic polymorphisms, G/A-455 (HaeIII), C/T-148 (HindIII/AluI), T/G+1689 (AvaII), and BclI (beta-fibrinogen) and TaqI (alpha-fibrinogen), and their detection by PCR.

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77.

Benson MD et al. (1993) Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

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78.

Uemichi T et al. (1994) Hereditary renal amyloidosis with a novel variant fibrinogen.

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79.

Galanakis DK et al. (1993) Inherited dysfibrinogenemia: emerging abnormal structure associations with pathologic and nonpathologic dysfunctions.

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80.

Kudryk B et al. (1976) Fibrinogen Detroit - an abnormal fibrinogen with non-functinal NH2-terminal polymerization domain.

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81.

Fuchs G et al. (1977) Fibrinogen Marburg a new genetic variant of fibrinogen.

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82.

Barthels M et al. (1977) [Fibrinogen "Hannover", a further abnormal fibrinogen].

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83.

Branson HE et al. (1977) Fibrinogen Seattle: a qualitatively abnormal fibrinogen in a patient with tetralogy of Fallot.

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84.

Koopman J et al. (1993) Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia.

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85.

Fu Y et al. (1995) Fibrinogen alpha genes: conservation of bipartite transcripts and carboxy-terminal-extended alpha subunits in vertebrates.

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86.

Mosesson MW et al. (1996) The relationship between the fibrinogen D domain self-association/cross-linking site (gammaXL) and the fibrinogen Dusart abnormality (Aalpha R554C-albumin): clues to thrombophilia in the "Dusart syndrome".

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87.

Uemichi T et al. (1996) A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis.

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88.

Brennan SO et al. (1995) Aberrant hepatic processing causes removal of activation peptide and primary polymerisation site from fibrinogen Canterbury (A alpha 20 Val --> Asp).

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89.

Hamidi Asl L et al. (1997) Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid protein.

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90.

Xiao Q et al. (1998) Fibrinogen deficiency is compatible with the development of atherosclerosis in mice.

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91.

Neerman-Arbez M et al. (1999) Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia.

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