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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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5. |
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6. |
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7. |
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8. |
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9. |
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10. |
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11. |
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17. |
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18. |
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19. |
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20. |
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26. |
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27. |
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31. |
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32. |
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34. |
None (1993) Inherited dysfibrinogenemia: emerging abnormal structure associations with pathologic and nonpathologic dysfunctions.
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35. |
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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36. |
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37. |
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38. |
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39. |
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40. |
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41. |
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42. |
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43. |
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44. |
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45. |
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46. |
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47. |
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48. |
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49. |
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|
50. |
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51. |
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52. |
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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53. |
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54. |
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55. |
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56. |
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57. |
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58. |
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59. |
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|
60. |
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|
61. |
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62. |
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|
63. |
Uemichi T et al. (1996) A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis.
|
64. |
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65. |
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|
66. |
None (1985) The United Kingdom Medical Research Council's glomerulonephritis registry.
|
67. |
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|
68. |
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|
69. |
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|
70. |
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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71. |
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|
72. |
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|
73. |
Soria J et al. (1985) Episodes of increased fibronectin level observed in a patient suffering from recurrent thrombosis related to congenital hypodysfibrinogenaemia (fibrinogen Malmoe).
|
74. |
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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75. |
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76. |
Marino MW et al. (1986) Chromosomal localization of human and rat A alpha, B beta, and gamma fibrinogen genes by in situ hybridization.
|
77. |
Ebert RF et al. (1986) Fibrinogen Seattle II: congenital dysfibrinogenemia with an Arg (A alpha 16)----his substitution.
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78. |
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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79. |
Alving BM et al. (1987) Fibrinogen giessen I: a congenital homozygously expressed dysfibrinogenemia with A alpha 16 Arg----His substitution.
|
80. |
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81. |
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|
82. |
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|
83. |
Hamsten A et al. (1987) Genetic and cultural inheritance of plasma fibrinogen concentration.
|
84. |
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.
|
85. |
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|
86. |
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|
87. |
Lee MH et al. (1991) Fibrinogen Ledyard (A alpha Arg16----Cys): biochemical and physiologic characterization.
|
88. |
Mourad G et al. (2008) Cardiac amyloidosis with the E526V mutation of the fibrinogen A alpha-chain.
|
89. |
Flood VH et al. (2006) The fibrinogen Aalpha R16C mutation results in fibrinolytic resistance.
|
90. |
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.
|
91. |
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.
|
92. |
OMIM.ORG article
Omim 134820
|
93. |
Orphanet article
Orphanet ID 121786
|
94. |
NCBI article
NCBI 2243
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Update: 14. August 2020