Study on regional differences of allele frequency distributions at STR loci for personal identification among Japanese populations

应用AmpFlSTR鉴定试剂盒和Ohtaki等人设计的6-plex扩增分型系统，对日本4个地区人群(秋田198人、名古屋200人、大分175人和冲绳196人)共21个常染色体STR基因座的等位基因频率分布进行了检测，并进行了配对比较和统计学分析。根据所有三种检验(似然比检验、纯合性检验和精确检验)，在每个地区人群中没有一个基因座的分布偏离HWE。在7个以上基因座上，名古屋和冲绳(11个基因座)、秋田和冲绳(9个基因座)和大分和冲绳(8个基因座)的分布有显著差异(P&lt；0.05)。秋田与名古屋、秋田与大分、名古屋与大分三个基因座之间存在显著差异。用两种复合分型系统分析了日本男性14个Y-STR基因座(DYS19、DYS385、DYS3891、DYS38911、DYS390、DYS391、DYS392、DYS393、DYS435、DYS437、DYS438、DYS439、DYS460、Y-GATA-H4)的单倍型，并用与常染色体相同的方法比较了各基因座的等位基因频率。秋田与名古屋、秋田与大分、名古屋与大分、大分与冲绳之间无显著差异(P&gt；0.05)，秋田与冲绳间有6个基因座差异显著(P&lt；0.05)，名古屋与冲绳间有5个基因座差异显著(P&gt；0.05)。在秋田日本群体中观察到112种单倍型，名古屋有190种，大分有89种，冲绳有80种，总共观察到441种单倍型，但4个日本群体中只有2种单倍型。

The allele frequency distributions at total 21 autosomal STR loci were examined in four regional Japanese populations (198 individuals in Akita,200 in Nagoya,175 in Oita and 196 in Okinawa) using an AmpFlSTR Identifier kit for 15 loci and a 6-plex amplification and typing system devised by Ohtaki et al., and compared pairwise and statistically between each of them. There were no loci at which the distributions deviated from HWE based on all of three tests (the likelihood ratio test, the homozygosity test, and the exact test) in each regional population. Those distributions at more than 7 loci were significantly different (P<0.05) between Nagoya and Okinawa (11 loci), Akita and Okinawa (9 loci), and Oita and Okinawa (8 loci). On the other hand, three loci showed significant difference between Akita and Nagoya, Akita and Oita, and Nagoya and Oita. The haplotypes at 14 Y-STR loci (DYS19,DYS385,DYS3891,DYS38911,DYS390,DYS391,DYS392,DYS393,DYS435,DYS437,DYS438,DYS439,DYS460,Y-GATA-H4) were also analyzed from Japanese males (121 in Akita,207 in Nagoya,90 in Oita, and 87 in Okinawa) using two multiplex typing systems, and the allele frequency at each locus was compared by the same method as that at autosomal one. The distributions did not differ at any loci between Akita and Nagoya, Akita and Oita, Nagoya and Oita, and Oita and Okinawa (P>0.05), however, there were significant differences (P<0.05) between Akita and Okinawa at 6 loci, and between Nagoya and Okinawa at 5 loci. In Akita-Japanese, 112 haplotypes were observed,190 in Nagoya,89 in Oita, and 80 in Okinawa, and a total of 441 haplotypes were observed in the whole individuals, but only two haplotypes were shared among four Japanese populations.