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Familial variant of antithrombin III (AT III Bligny, 47Arg to His) associated with protein C deficiency.

Abstract
The association of a variant of antithrombin III (AT III Bligny) and protein C deficiency is described in a 36-year-old patient having suffered from severe thrombotic episodes. His mother has protein C deficiency and showed a single episode of thrombophlebitis following surgery. His father, sister and daughter have the variant AT III and are asymptomatic. The abnormal AT III was characterized in plasma by the discrepancy between a normal progressive activity and a reduced heparin cofactor activity. This variant AT III was purified, separated from the normal protein by heparin-Sepharose chromatography and was eluted with increased NaCl concentrations. At pH 7.4, the variant AT III eluted at lower (0.3 to 0.5 M) NaCl concentrations than normal (1 to 1.5 M) AT III, thus demonstrating a decreased affinity for heparin. At pH 6.0, however, the abnormal molecule bound more avidly to heparin-Sepharose and was eluted like normal AT III at pH 7.4. Similarly, the heparin enhancement of intrinsic fluorescence of the variant AT III, markedly reduced at pH 7.4, was normalized at pH 6.0. The abnormal AT III showed a normal antiprotease activity, a normal molecular weight by SDS-PAGE, but displayed only a partial immunological identity with the normal protein. Analysis of amplified genomic DNA from this patient by dot-blot demonstrates a heterozygous substitution of arginine by histidine at position 47.
AuthorsM Wolf, C Boyer-Neumann, P Molho-Sabatier, C Neumann, D Meyer, M J Larrieu
JournalThrombosis and haemostasis (Thromb Haemost) Vol. 63 Issue 2 Pg. 215-9 (Apr 12 1990) ISSN: 0340-6245 [Print] Germany
PMID2363123 (Publication Type: Case Reports, Journal Article)
Chemical References
  • antithrombin III Rouen
  • Antithrombin III
  • DNA
Topics
  • Adult
  • Antithrombin III (genetics, isolation & purification, metabolism)
  • Blood Coagulation Tests
  • DNA (analysis)
  • Humans
  • Immunoblotting
  • Male
  • Mutation
  • Pedigree
  • Protein C Deficiency
  • Spectrometry, Fluorescence
  • Thromboembolism (blood, genetics)

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