Summary
When we compared nucleotide sequences of the 5’-flanking regions for plasminogen genes
from 11 individuals, six substitutions were identified even among normal subjects.
A new haplotype (termed allele II) was screened by PCR-RFLP analysis among 54 Japanese
and 58 Caucasian normal subjects. The frequency of allele II was 0.787 in the Japanese
and 0.560 in the Caucasians, indicating that the ratio of alleles differs between
populations. Examination of 118 cases with dysplasminogenemia revealed that the Ala601-Thr
mutation was present on allele I in most cases. This mutation was also associated
with allele II in one-fourth of all cases, suggesting possible recombination within
the plasminogen gene. Interestingly, we previously demonstrated that the expression
activity of allele II was about 1.8 fold that of allele I in vitro.