PMID: 8611457Apr 1, 1996Paper

Fibrinogen Lincoln: a new truncated alpha chain variant with delayed clotting

British Journal of Haematology
H J RidgwayP M George

Abstract

A patient referred for preoperative investigation of prolonged bleeding and easy bruising was found to have increased thrombin and reptilase times; however, the thrombin catalysed release of fibrinopeptides A and B was normal. Analysis of five other family members, spanning three generations, indicated that three had a similar defect and suggested autosomal dominant inheritance. Non-reducing SDS-PAGE of purified fibrinogen from affected individuals showed that the 340 kD form of their fibrinogen ran as a doublet. SSCP (single-stranded conformational polymorphism) analysis of exon 5 of the A alpha gene, which encodes the C-terminal half of the chain, confirmed the presence of a mutation. Cycle sequencing of PCR amplified DNA revealed a 13 base pair deletion (nt 4758-4770), resulting in a frame-shift at Ala 475, which translates as four new amino acids before terminating at a new stop codon (-476His-Cys-Leu-Ala-Stop). The presence of a circulating truncated A alpha chain was confirmed when SDS-PAGE gels were probed with an alpha chain specific antisera; which showed that the variant A alpha chain comigrated with gamma chains. The truncation results in a variant A alpha chain with a deletion of 131 amino acids (480-610), and four ...Continue Reading

Citations

Jun 9, 2017·Haemophilia : the Official Journal of the World Federation of Hemophilia·Y AmriN E H Toumi
Apr 10, 2009·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Wolfgang MiesbachInge Scharrer
Jul 23, 2003·Journal of Thrombosis and Haemostasis : JTH·V M HomerP M George
Jul 20, 2001·Annals of the New York Academy of Sciences·J W Weisel, L Medved
May 31, 2018·International Journal of Molecular Sciences·Giovanni Luca Tiscia, Maurizio Margaglione
Jul 20, 2001·Annals of the New York Academy of Sciences·M Neerman-Arbez
Apr 24, 2019·Research and Practice in Thrombosis and Haemostasis·Jeannette SoriaMassoud Mirshahi
Jul 20, 2001·Annals of the New York Academy of Sciences·S O BrennanP M George

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