Summary
Polymorphism of the second component of human complement (C2) was investigated in a total of 292 sera from unrelated adult Japanese using a slab polyacrylamide gel isoelectric focusing followed by a specific hemolytic assay. Besides the common phenotype (C), two relatively infrequent double-banded phenotypes (AC and BC) were observed, which were considered to be heterozygotes. The estimated frequencies for the common allele,C2 C, and the variant alleles,C2 A andC2 B, were 0.937, 0.046, and 0.017, respectively. 229 samples were further typed for HLA-A, HLA-B, and HLA-C, and the result indicated the prescence of significant association ofC 2A withHLA-B15. This finding suggests that in Japanese there is an allelic combination showing linkage disequilibrium between C2 and HLA loci which is different from those in Caucasians.
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Tokunaga, K., Omoto, K., Araki, C. et al. Genetic polymorphism of the second component of human complement (C2) in Japanese. Jap J Human Genet 25, 287–293 (1980). https://doi.org/10.1007/BF01901729
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