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Thromb Haemost 2000; 84(02): 307-311
DOI: 10.1055/s-0037-1614012
DOI: 10.1055/s-0037-1614012
Review Article
A Novel Point Mutation of the Splicing Donor Site in the Intron 2 of the Plasmin Inhibitor Gene
This study was supported in part by a research grant to R. F. from the French Society of Pediatric Pathology and grants to S. H. for intractable diseases from the Ministry of Health and Welfare of Japan.
Further Information
Publication History
Received
07 December 1999
Accepted after revision
16 March 2000
Publication Date:
14 December 2017 (online)
Summary
Plasmin inhibitor (PI) is a major physiological inhibitor of plasminmediated fibrinolysis; hence, its deficiency results in a severe haemorrhagic diathesis. We analyzed the PI gene of a French boy apparently homozygous for PI deficiency and his heterozygous parents. Both alleles of the homozygous patient had a novel G to A transition at the consensus splicing donor site in the intron 2 of the PI gene. In an expression assay using the heterologous cells transfected with the mutant PI expression vector, 3 types of aberrant transcripts using a cryptic splicing donor site within the intron 2 were detected. All of these mRNAs had a stop codon upstream of the cryptic splicing site and encode only 25 amino acids, comprising the first 21 amino acids of the signal peptide (27 amino acids) plus 4 new amino acids. This mutant was designated as PI-Paris-Trousseau.
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