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Understanding the phylogenetic relationship between Hokkaido Ainu and Ryukyu islanders has been of great interest in human genetics, archaeology, and anthropology. We examined short tan- dem repeat (STR) polymorphisms on autosomes and Y-chromosomes for Ainu, and compared this with data from Ryukyu islanders. A statistical test for nine autosomal (A-STR) loci gave no indication that the Ainu had experienced any bottleneck effect(s). The genetic distances (Rst) based on the A-STR data consistently showed substantial differentiation between the Ainu and all other populations. The haplotype analysis based on Y-chromosomal (Y-STR) data revealed 10 distinct haplotypes found in 19 Ainu males; 7 out of 10 were Ainu-specific haplotypes, whereas two haplotypes were shared with two males from main-island Okinawa and Miyako island, respectively, indicating a strong, close rela- tionship between the Ainu and the Ryukyu islanders. The time to the most recent common ancestor of the Y-lineages obtained in the Ainu and the Ryukyu islanders was estimated to be 37745 years ago. Overall, the A-STR showed uniqueness of the Ainu, and the Y-STR haplotypes revealed strong evi- dence for a link between the two indigenous populations of the Hokkaido and the Ryukyu islands.

Autosomal and Y-chromosomal STR markers reveal a close relationship between Hokkaido Ainu and Ryukyu islanders