JapanesePlex: a method for identification of being Japanese using Japanese-specific SNPs

观察到67个（几乎）日本特有的snp。其中，冲绳地区的发病率最高，为57例，韩国地区的发病率较低，为43例。对北海道绳纹遗骨GALNT11、H19和PLA2G12A基因的3个单核苷酸多态性进行了分析，结果表明，这些单核苷酸多态性的频率均高于冲绳绳纹遗骨，表明冲绳绳纹遗骨的单核苷酸多态性频率最高。在法医实践中，选择了50个高频且无连锁不平衡的snp。建立了一种基于单引物延伸技术的多重分型方法。这种japeplex方法允许高概率地识别是日本人。

To find out Japanese-specific SNPs, a total of 875 DNA samples from Japanese in Tottori and Okinawa, Koreans, Mongolians, Hans, Tibetans, Germans and Africans were investigated. Sixty-seven (nearly) Japanese-specific SNPs were observed. Of them, 57 showed the highest frequencies in Okinawa, and 43 were also observed in Koreans at lower frequencies. DNA samples from Jomon remains in Hokkaido were investigated for three SNPs at the GALNT11, H19 and PLA2G12A genes, and showed higher frequencies in every SNP than those from Okinawa, suggesting that the SNPs observed at the highest frequencies in Okinawa were of Jomon lineage. For forensic practice, 50 SNPs with high frequency and no linkage disequilibrium were selected. A multiplex typing method based on single-based primer extension technology were established. This JapanesePlex method permitted the identification of being Japanese with high probability.