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Titolo:
A novel missense mutation in the human plasmin inhibitor (alpha(2)-antiplasmin) gene associated with a bleeding tendency
Autore:
Lind, B; Thorsen, S;
Indirizzi:
Rigshosp, Dept Clin Biochem KB 3011, Sect Haemostasis & Thrombosis, DK-2100 Copenhagen, Denmark Rigshosp Copenhagen Denmark DK-2100 ombosis, DK-2100 Copenhagen, Denmark
Titolo Testata:
BRITISH JOURNAL OF HAEMATOLOGY
fascicolo: 2, volume: 107, anno: 1999,
pagine: 317 - 322
SICI:
0007-1048(199911)107:2<317:ANMMIT>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALPHA-2-PLASMIN INHIBITOR; ACTIVATOR INHIBITOR-1; HUMAN ALPHA-2-ANTIPLASMIN; THROMBOEMBOLIC DISEASE; DEFICIENCY; SITE; SERPINS; THROMBOSIS; SEQUENCE; SYSTEM;
Keywords:
plasmin inhibitor deficiency; alpha(2)-antiplasmin; serine proteinase inhibitor; bleeding; mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Lind, B Rigshosp, Dept Clin Biochem KB 3011, Sect Haemostasis & Thrombosis, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Rigshosp Blegdamsvej 9 Copenhagen Denmark DK-2100 nhagen, Denmark
Citazione:
B. Lind e S. Thorsen, "A novel missense mutation in the human plasmin inhibitor (alpha(2)-antiplasmin) gene associated with a bleeding tendency", BR J HAEM, 107(2), 1999, pp. 317-322

Abstract

Heterozygosity for a G --> A mutation converting Val384((G) under bar TG) to Met((A) under bar TG) associated with plasmin inhibitor (alpha(2)-antiplasmin) deficiency was identified in three family members with bleeding tendency, The proband had traumatic breast haematoma and per-/postoperative bleeds, ifn affected daughter required a blood transfusion after a normal delivery and a son had prolonged bleeding after tooth extraction. The plasma plasmin inhibitor activities of the affected family members were reduced to 49-66% of normal. The antigenic concentrations determined by electroimmunoassay were reduced to 57-68% of normal, Crossed immunoelectrophoresis of plasma from the proband showed a normal pattern. The amino acid Val384 is located eight residues C-terminal (P8') of the P1 residue (Arg376) in the reactive site. The P8' residues of bovine and mouse plasmin inhibitor are both Val, Among other serpins the Ps' residue is unconserved. The mutation was notpresent in the non-affected family member or 30 blood donors. In addition to the Val384Met mutation two new polymorphisms Ala-26(G (C) under bar G)/Val(G (T) under bar G) and Arg407(A (G) under bar G)/Lys(A (A) under bar G) and one previously reported polymorphism Arg6((C) under bar GG)/Trp((T) under bar GG) were identified in the plasmin inhibitor gene of the family. Theallelic frequencies among 30 blood donors with normal values of plasma plasmin inhibitor (functional) were 0.84/0.16 for C/T in codon -26, 0.81/0.19 for C/T in codon 6 and 0.83/0.17 for G/A in codon 407.

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Documento generato il 04/12/20 alle ore 22:48:28