Kida M, H-Kawabata M, Yamazaki T, Ichinose A
Department of Molecular Pathological Biochemistry, Yamagata University School of Medicine, Japan.
Thromb Haemost. 1998 Jan;79(1):150-4.
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.
当我们比较了11名个体纤溶酶原基因5'侧翼区的核苷酸序列时，即使在正常受试者中也鉴定出6处替换。通过PCR-RFLP分析在54名日本正常受试者和58名高加索正常受试者中筛选出一种新的单倍型（称为等位基因II）。等位基因II在日本人中的频率为0.787，在高加索人中为0.560，表明不同人群中等位基因的比例不同。对118例异常纤溶酶原血症患者的检查显示，大多数病例中Ala601-Thr突变存在于等位基因I上。在所有病例的四分之一中，该突变也与等位基因II相关，提示纤溶酶原基因内可能存在重组。有趣的是，我们之前证明等位基因II在体外的表达活性约为等位基因I的1.8倍。
