Establishment of paternity test system in Japan

本研究的第一个结果是日本法医学会亲子鉴定工作组制定的《日本亲子鉴定指南》。这项研究的首席调查员组织该小组担任主席，与其他调查人员合作制定指南。这是日本第一个也是最全面的亲子鉴定指南，不仅包括技术规程，还包括样本采集和存储、专家报告的公式和伦理指南。经再次验证，我们推荐了Hardy-Weberg平衡的纯合性检验、似然比检验和准确度检验三种检验方法，并建立了商品化多重扩增和分型试剂盒提供的日语通用STR基因座的高度可靠的数据库。作为更具实用性的研究，我们应用唾液、拔毛和牙刷细胞等标本对STR进行了深入的多重基因分型，扩大了样本的潜在限制。此外，我们还尝试将小卫星变异重复定位技术(MVR-PCR)应用于亲子鉴定。另一方面，我们讨论了在多路STR系统中具有相当高的STR突变率的情况，并利用多路系统计算了这种突变的频率。在计算概率时加上这个比率，就有可能构建一个更可靠的亲子鉴定系统。在本研究中，我们几乎建立了一套可靠的日本亲子鉴定制度。今后有必要努力使法院和社会认识到亲子鉴定的正当性。

The first one of results in the present study was "The guideline of paternity test in Japan" fixed up by the working group of paternity test in the Japanese Society of Legal Medicine. The head investigator of this study organized this group as the chairperson to make the guideline in cooperation with the other investigators. This guideline is the first and overall one in Japan concerning the parentage testing, which includes not only technical protocol but also sample collection and storage, the formula of expert report, and ethical guideline. We also recommended the three tests, homozygosity test, likelihood ratio test and exact test for the Hardy-Weiberg equilibrium by re-verification, and constructed a highly reliable database in Japanese at general STR loci available by commercially released multiplex amplification and typing kits. As more practical studies, we applied some specimens such as saliva, plucked hairs and cells from toothbrushes to multiplex STR genotyping thoroughly, and expanded the potential limitation of specimens. Furthermore, we tried to apply the minisatellite variant repeat mapping by PCR (MVR-PCR) to paternity tests. On the other hand, we discussed about the mutation of STRs which has considerably high rates with multiplex STR systems, and calculated the rate using a multiplex system. Addition of this rate in calculating the probabilities makes it possible to construct a more reliable system for parentage testings. In the present study, we have almost established a reliable paternity test system in Japan. It is necessary to make efforts to recognize the courts and society about the rightful paternity tests in future.