Establishment of a method for regional human population identification in/around Japan using autosomal STR markers

从日本地区人群中收集的DNA样本进行了基因分型，用于几乎均匀分布在人类常染色体上的数百个四核苷酸重复序列STR（短串联重复序列）标记位点。其中105个位点的基因型来自5个日本地区（秋田、名古屋、大分、长崎和冲绳），5个中国地区（陕西、湖南、广东、福建和北京），1个泰国人（曼谷），1个缅甸人（仰光），2个蒙古地区（乌拉贡和达兰扎加德），1个朝鲜族中国人（沈阳）和1个朝鲜族（首尔），共16个亚洲地区人群。利用系统发育分析、结构遗传分析和三维作图等群体遗传学方法对基因型数据进行分析。因此，建议在统计上区分日本人和汉族人。因此，计算每个STR基因座的每个等位基因的日本人与中国人的似然比，并将每个个体的比值乘以所有基因座，然后将所有比值的分布校正为正态分布，这有可能建立识别种族的系统此外，我们还建立了一个类似的250多个常染色体四核苷酸重复STR基因座的多重分型系统。这一多重系统将使人们有可能检查区域较近的人口之间的统计差异，如日本人和韩国人和/或日本的区域人口。

DNA samples collected from regional human population in/around Japan were genotyped for hundreds loci of tetra-nucleotide repeat STR(short tandem repeat) markers almost equally distributed on human autosomes. One hundred and five loci of them were genotyped for DNA samples collected from five regional Japanese(Akita, Nagoya, Oita, Nagasaki and Okinawa), 5 regional Han Chinese(Shaanxi, Hunan, Guangdong, Fujian and Beijing), one Thais(Bangkok), one Burmese(Yangon), two regional Mongolian(Ulaagom and Dalandzadgad), one Korean Chinese(Shenyang) and one Korean(Seoul), total 16 regional Asian populations. Then those genotype data were analyzed with some population gentical methods such as phylogenetic, structural-genetic, and 3D-plotted programs. As a result, it was suggested to distinguish between Japanese and Han-Chinese statistically. Therefore, the ratios of likelihood for Japanese to Chinese at each allele for each STR locus were calculated, and the ratios of each individual were multiplied for all loci, and then the distribution for all of the ratios was corrected to a normal distribution, which has the possibility to establish a system to identify the ethnicity(which Japanese or Chinese) statistically.Furthermore, we constructed a similar multiplex typing system for more than 250 autosomal tetra-nucleotide repeat STR loci. This multiplex system would made it possible to examine the statistical differentiation between regionally closer populations, such as Japanese and Koreans and/or regional populations in Japan.