Okamoto Osamu, Yamamoto Yuji, Inagaki Sachiyo, Yoshitome Kei, Ishikawa Takaki, Imabayashi Kiyomi, Miyaishi Satoru, Ishizu Hideo
Department of Legal Medicine, Okayama University Graduate School of Medicine and Dentistry, Okayama 700-8558, Japan.
Acta Med Okayama. 2003 Apr;57(2):59-71. doi: 10.18926/AMO/32819.
Allele and genotype frequencies for 15 short tandem repeat (STR) polymorphisms--D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX and FGA--in a Japanese population were estimated. No deviations of the observed allele frequency from Hardy-Weinberg equilibrium expectations were found for any of the systems studied. Between 2 new pentanucleotide STR loci, Penta E and Penta D, for which there is only limited data regarding the allelic distribution in Japanese, the Penta E locus was found to be highly polymorphic and exhibited a tri- or tetra-modal distribution pattern having allelic peaks with 5, 11, 15 and 20 repeats. The distribution was significantly different from that of the other ethnic groups. Statistical parameters of forensic importance, the power of discrimination (PD), observed and expected heterozygosity values (H), polymorphism information content (PIC), power of discrimination (PD), matching probability (pM), power of exclusion (PE), and typical paternity index (PI), were calculated for the loci. These parameters indicated the usefulness of the loci in forensic personal identification and paternity testing among Japanese. The systems Penta E, FGA, D18S51 and D8S1179 were the most informative. This method was successfully applied to forensic personal identification and paternity testing among Japanese, thereby confirming its efficacy for forensic practice.
对日本人群中15个短串联重复序列(STR)多态性位点——D3S1358、TH01、D21S11、D18S51、五核苷酸重复序列E(Penta E)、D5S818、D13S317、D7S820、D16S539、CSF1PO、五核苷酸重复序列D(Penta D)、vWA、D8S1179、TPOX和FGA——的等位基因和基因型频率进行了估计。在所研究的任何系统中,均未发现观察到的等位基因频率与哈迪-温伯格平衡预期存在偏差。在两个新的五核苷酸STR位点Penta E和Penta D之间,关于其在日本人中等位基因分布的数据有限,发现Penta E位点具有高度多态性,呈现出具有5、11、15和20次重复的等位基因峰的三峰或四峰分布模式。该分布与其他种族群体的分布显著不同。计算了各基因座的法医重要性统计参数,包括鉴别力(PD)、观察到的和预期的杂合度值(H)、多态信息含量(PIC)、鉴别力(PD)、匹配概率(pM)、排除力(PE)和典型父权指数(PI)。这些参数表明这些基因座在日本人的法医个人识别和亲子鉴定中的有用性。Penta E、FGA、D18S51和D8S1179系统信息量最大。该方法成功应用于日本人的法医个人识别和亲子鉴定,从而证实了其在法医实践中的有效性。