B. Conne et al., DETECTION OF POLYMORPHISMS IN THE HUMAN UROKINASE-TYPE PLASMINOGEN-ACTIVATOR GENE, Thrombosis and haemostasis, 77(3), 1997, pp. 434-435
Expressed polymorphisms in the genes encoding components of the fibrin
olytic cascade could have implications for the predisposition to throm
bolytic disorders and/or for tumor metastasis. The occurrence of publi
shed two amino acid sequences at position 194 of the human urokinase-t
ype plasminogen activator prompted us to search by SSCP for frequent p
olymorphisms in several exons of the gene. Surprisingly, only one sequ
ence was detected in codon 194 (>200 alleles). Two polymorphisms were
observed in this study: the most frequent one, a C to T change near th
e beginning of exon 8, is probably silent; a less frequent polymorphis
m results in the replacement of a Leu residue by a Pro, in the kringle
domain.