SummaryThe risk of thrombosis in type I congenital plasminogen (PLG) deficiency has been suggested, but is still not confirmed. We studied 40 members of two unrelated families with this disease, and found that 21 were heterozygotes of type I congenital PLG deficiency. Three of them had thrombosis, but the other 18 had no thrombosis. The percentages of family members with no history of thrombosis up to a given age among subjects with type I congenital PLG deficiency and healthy controls were analyzed by the Kaplan-Meier method. No significant difference between the two groups was observed by the generalized Wilcoxon test (p = 0.23). These results suggest that there is no significant correlation between type I congenital PLG deficiency and thrombosis.
We used a polymerase chain reaction (PCR) strategy and restriction fragment polymorphism analysis to evaluate all 19 exons of the plasminogen (PLG) gene in a Japanese patient with congenital PLG deficiency and her family members. She presented with cerebral infarction. Sequence analysis following amplification of each exon and its flanking regions showed a single T to C transition in exon 14, which changed a Ser572 codon (TCC) to Pro572 codon (CCC). Since this mutation generates a new Fok I site, the Fok I digestion pattern of the PCR-amplified exon 14 fragments from each family member was analyzed. In all cases, the patterns were consistent with the activities and antigen levels of plasma PLG in those members. Furthermore, all PCR- amplified exon 14 fragments from 15 normal individuals were not restricted with Fok I endonuclease. We conclude that a T to C transition in exon 14 identified in the propositus is responsible for PLG deficiency inherited in this Japanese family with thrombotic episodes.
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