T. Seki et al., Arg506Gln mutation of the coagulation factor V gene not detected in Japanese pulmonary thromboembolism, HEART VESS, 13(4), 1998, pp. 195-198
The incidence of pulmonary thromboembolism (PTE) is lower in Japanese than
in Caucasians. The basis for the different incidence has not been clarified
. A poor anticoagulant response to activated protein C based on a single po
int mutation of the factor V gene (Arg506Gln) was found to be a pathogeneti
c factor for venous thrombosis and PTE in North America and Europe. We inve
stigated whether the Arg506Gln mutation of factor V is responsible for the
occurrence of PTE among Japanese. We analyzed genomic DNA prepared from fre
sh peripheral blood of 25 patients with PTE of unknown etiology (12 of acut
e type and 13 of chronic type) and that of 110 controls without respiratory
or circulatory disorders. To detect the Arg506Gln mutation, 267 bp DNA fra
gments of the factor V gene including the Arg506Gln region were amplified b
y PCR, digested by MnlI and electrophoresed. After digestion of PCR product
s with MnlI, DNA fragments of 163 bp length, but not DNA fragments of 200bp
length, were identified in all samples, indicating the absence of the Arg5
06Gln mutation in the patients with PTE and control subjects. These results
suggest that the Arg506Gln mutation is absent or very rare and not an impo
rtant pathogenetic factor for PTE in Japanese.