Frequency distributions of various plasminogen phenotypes in Japanese and American white populations were studied using electrofocusing in polyacrylamide gels followed by zymography and immunofixation. Using a synthetic substrate, tosyl-lysine-alpha-naphthyl ester, for zymography allowed zymography and immunofixation to be performed sequentially on the same gel plate. By this method, a nonfunctional abnormal plasminogen variant, plasminogen Tochigi, was readily detected in both plasma and serum. The gene frequency of this abnormal variant in a Japanese population was 0.018, whereas the abnormal variant was not detected in an American white population, suggesting the very rare occurrence of this variant in whites. Two common alleles, A and B, clearly identified in neuraminidase-treated samples, were observed at gene frequencies of 0.98 and 0.003, respectively, in the Japanese. These values are significantly different from the reported values in whites of 0.69 for A and 0.3 for B.
Human leukocyte antigen (HLA) is a gene complex known for its exceptional diversity across populations, importance in organ and blood stem cell transplantation, and associations of specific alleles with various diseases. We constructed a Japanese reference panel of class I HLA genes (ToMMo HLA panel), comprising a distinct set of HLA-A, HLA-B, HLA-C, and HLA-H alleles, by single-molecule, real-time (SMRT) sequencing of 208 individuals included in the 1070 wholegenome Japanese reference panel (1KJPN). For high-quality allele reconstruction, we developed a novel pipeline, PrimerSeparation Assembly and Refinement Pipeline (PSARP), in which the SMRT sequencing and additional short-read data were used. The panel consisted of 139 alleles, which were all extended from known IPD-IMGT/HLA sequences, contained 40 with novel variants, and captured more than 96.5% of allelic diversity in 1KJPN. These newly available sequences would be important resources for research and clinical applications including high-resolution HLA typing, genetic association studies, and analyzes of cis-regulatory elements.
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