Establishment of paternity test system in Japan

本研究的第一项成果是日本法律的医学会亲子鉴定工作组制定的《日本亲子鉴定指南》。本研究的主要研究者作为主席组织该小组，与其他研究者合作制定指南。该指南是日本第一个关于亲子鉴定的全面指南，其中不仅包括技术协议，还包括样本收集和储存，专家报告的公式和伦理指南。我们还推荐了三个测试，纯合性测试，似然比测试和精确测试的Hardy-Weiberg平衡的重新验证，并建立了一个高度可靠的数据库，在日本的一般STR基因座可用的市售的多重扩增和分型试剂盒。作为更实用的研究，我们将唾液、拔下的毛发、牙刷上的细胞等标本应用于STR基因分型，扩大了标本的潜在局限性。此外，我们还尝试将小卫星变异重复序列定位技术（MVR-PCR）应用于亲子鉴定。另一方面，我们讨论了多重STR系统中突变率相当高的STR的突变，并使用多重系统计算了突变率。在计算概率时加入该比率，使得有可能构建一个更可靠的亲子鉴定系统。在本研究中，我们几乎建立了一个可靠的亲子鉴定制度在日本。未来有必要努力让法院和社会认可亲子鉴定的合法性。

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.