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

为了能够确定身体的种族来源和法医材料，我们调查了700-2000年日本人、韩国人、中国汉族人、蒙古人和德国人的DNA样本中的mtDNA和Y染色体单倍群。用APLP方法同时对mtDNA编码区20多个SNP进行分型时，只在日本人和韩国人中发现了单倍群B2。然而，它在日本人中的出现频率明显高于韩国人。用RFLP方法对Y染色体29个二元多态性进行分型，可将不同群体的867个样本分为24个单倍群。虽然杂合度值相似，但单倍群的分布和单倍群之间的平均成对差异数有很大差异。在SRY基因中发现的C-T转换是独一无二的，只在日本人和韩国人中观察到。在日本人中，YAP系的单倍组4和5以及RPS4Y系的单倍组8的频率高于韩国人。当观察到这些mtDNA和Y染色体单倍群时，强烈建议这些身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.