PMID- 10583218
OWN - NLM
STAT- MEDLINE
DCOM- 20000104
LR  - 20190705
IS  - 0007-1048 (Print)
IS  - 0007-1048 (Linking)
VI  - 107
IP  - 2
DP  - 1999 Nov
TI  - A novel missense mutation in the human plasmin inhibitor (alpha2-antiplasmin)
      gene associated with a bleeding tendency.
PG  - 317-22
AB  - Heterozygosity for a G --> A mutation converting Val384(GTG) to Met(ATG)
      associated with plasmin inhibitor (alpha2-antiplasmin) deficiency was identified 
      in three family members with bleeding tendency. The proband had traumatic breast 
      haematoma and per-/postoperative bleeds. An 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 P8' residue is unconserved. The
      mutation was not present in the non-affected family member or 30 blood donors. In
      addition to the Val384Met mutation two new polymorphisms Ala-26(GCG)/Val(GTG) and
      Arg407(AGG)/Lys(AAG) and one previously reported polymorphism Arg6(CGG)/Trp(TGG) 
      were identified in the plasmin inhibitor gene of the family. The allelic
      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.
FAU - Lind, B
AU  - Lind B
AD  - Section for Haemostasis and Thrombosis, Department of Clinical Biochemistry,
      Rigshospitalet, Copenhagen, Denmark. rh02440@rh.dk
FAU - Thorsen, S
AU  - Thorsen S
LA  - eng
PT  - Journal Article
PL  - England
TA  - Br J Haematol
JT  - British journal of haematology
JID - 0372544
RN  - 0 (alpha-2-Antiplasmin)
SB  - IM
MH  - Adult
MH  - Amino Acid Substitution/genetics
MH  - Breast Diseases/genetics
MH  - Female
MH  - Hematoma/genetics
MH  - Hemorrhagic Disorders/*genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation, Missense/*genetics
MH  - Postpartum Hemorrhage/genetics
MH  - Pregnancy
MH  - alpha-2-Antiplasmin/*genetics
EDAT- 1999/12/03 00:00
MHDA- 1999/12/03 00:01
CRDT- 1999/12/03 00:00
PHST- 1999/12/03 00:00 [pubmed]
PHST- 1999/12/03 00:01 [medline]
PHST- 1999/12/03 00:00 [entrez]
AID - bjh1708 [pii]
AID - 10.1046/j.1365-2141.1999.01708.x [doi]
PST - ppublish
SO  - Br J Haematol. 1999 Nov;107(2):317-22. doi: 10.1046/j.1365-2141.1999.01708.x.