Development of new Japanese-specific DNA markers (SNP) and application to individualization

为了鉴定尸体和法医学材料的民族来源，我们对700-2000例日本人、朝鲜人、中国汉族、蒙古人和德国人的mtDNA和Y染色体单倍型群进行了研究。当APLP法同时对mtDNA编码区20个以上的SNPs进行分型时，仅在日本人和韩国人中发现mtDNA单倍群B2。然而，日本人的频率明显高于韩国人。通过对Y染色体上29个二元多态性的RFLP分型，我们将来自不同群体的867个样本分为24个单倍型群。虽然杂合度值相似，但单倍型群的分布和单倍型群间成对差异的平均数有很大差异。在SRY基因中发现的C到T转换是独特的，仅在日本人和韩国人中观察到。雅普家系单倍群4和5以及RPS 4 Y家系单倍群8在日本人中的检出率高于韩国人。这些线粒体DNA和Y染色体单倍型群的观察，强烈建议尸体和法医材料来自日本。

To make it possible to identify the ethnic origin of cadavers and forensic materials, we have investigated mtDNA and Y chromosome haplogroups in DNA samples from 700-2000 Japanese, Koreans, Chinese Hans, Mongolians and Germans. When more than 20 SNPs in the coding regions of mtDNA were typed simultaneously by APLP method, haplogroup B2 in mtDNA was found in only Japanese and Koreans. However, its frequency was markedly higher in Japanese than in Koreans. Typing of 29 binary polymorphisms in Y chromosome by RFLP permitted us to classify 867 samples from various populations into 24 haplogroups. Though the heterozygosity values were similar, the distribution of haplogroups and the mean number of pairwise differences among haplogroups were very different. A C-to-T transition found in the SRY gene was unique and observed only in Japanese and Koreans. Haplogroups 4 and 5 of YAP lineage and haplogroup 8 of RPS4Y lineage were identified in Japanese at higher frequencies than in Koreans. When these mtDNA and Y chromosome haplogroups are observed, it is strongly suggested that the cadavers and forensic materials are originated from Japanese.