Intensive study for evaluation and establishment of DNA identity in criminal justice.

它为评估与DNA分析相关的技术、DNA多态基因座(如STR和RFLP)的法医应用、数据库和生物统计分析、DNA测试的法律和伦理方面提供了重要信息。在这些方面，我们从法医材料中对人类特定区域的诊断、性别分型和个体鉴定进行了深入的研究。在研究项目期间还举行了研讨会和会议。1)为了确定单个物种的遗传独特性，采用聚合酶链式反应(PCR)方法对人类特定DNA区域(HSS)进行了分析，以获取法医材料(唾液、精子、血迹、头发、组织、骨骼和牙齿)。2)对DXZ-4和Spy基因进行了检测，验证了DXZ-4和Spy基因用于性别鉴定的可行性，DXZ-4扩增可以从女性DNA中检测到80bp的片段，Spy探针在Y染色体上发现了男性特有的序列。3)利用聚合酶链式反应和相关技术，对法医血液标本中的MCT118、ACTBP2、FGA、D8S320、D11S488、TH01和D16S537基因座进行了个体鉴定。这些基因座的等位基因频率来自200-300名日本人。此外，还将D1S8(MS32)的微卫星变异重复序列(MVR)图谱应用于一个实际案例。4)利用STR系统对法医材料进行DNA图谱分析所需的DNA序列数据是必要的，并且必须在日本建立质量保证指南。此外，法医领域还需要引进新的DNA测序技术。

It provides important information for forensic DNA profiling to evaluate technology relating DNA analysis, forensic application of DNA polymorphic loci such as STR and RFLP,data base and biostatistical analysis, legal and ethical aspects of DNA test. In these aspects, we made intensive study concerning diagnosis of human specific region, sex typing and individual indentification from forensic materials. Also symposium and meetings were held in the period of research project.1) For determination of genetic uniqueness of individual species, human specific DNA region (HSS) were analyzed using PCR method for forensic materials (saliva, sperms, blood stains, hairs, tissues, bones and tooth). It was confirmed that HSS region was detected only in human genomes involving Mongoloid, Caucasoid and Negroid, and was absent in non-human primates.2) DXZ 4 and SPY genes were examined to ascertain the feasibility of a sex-typing procedure using PCR.The DXZ 4 amplification could detect the 80bp fragment from female DNA.The SPY probe identified a male-specific sequence on chromosome Y.3) Individual identification from forensic blood samples were performed for MCT118, ACTBP2, FGA,D8S320, D11S488, TH01 and D16S537 loci using PCR and relating technology. Allelic frequencies of these loci were obtained from 200-300 Japanese population. In addition, microsatellite variant repeat (MVR) mapping using PCR at D1S8 (MS32) was applied to a practical cases.4) DNA sequence data for DNA profiling of forensic materials using STR systems are necessary and quality assurance guidances must be established in Japan. In addition, new technology for DNA sequencing requires to be introduced in forensic field.