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

它为法医DNA分析、DNA多态性位点（STR和RFLP）的法医应用、数据库和生物统计分析、DNA检测的法律和伦理方面提供了重要的信息。在这些方面，我们对人类特异区域的诊断、性别分型和法医鉴定进行了深入的研究。在研究项目期间还举行了专题讨论会和会议。1)为确定单个物种的遗传独特性，采用PCR方法对法医材料（唾液、精子、血迹、毛发、组织、骨骼和牙齿）进行人类特异性DNA区（HSS）分析。结果表明，HSS区域仅存在于蒙古人种、高加索人种和黑种人的人类基因组中，而在非人灵长类中不存在。2)对dxz4和SPY基因进行检测，确定PCR分型方法的可行性。dxz4扩增可检测到来自女性DNA的80bp片段。SPY探针在y染色体上鉴定出男性特异性序列。3)法医血样中MCT118、ACTBP2、FGA、D8S320、D11S488、TH01和D16S537位点采用PCR及相关技术进行个体鉴定。从200 ~ 300个日本人群中获得了这些位点的等位基因频率。此外，将PCR技术应用于D1S8 （MS32）位点的微卫星变异重复序列（MVR）定位。4)使用STR系统对法医材料进行DNA分析需要DNA序列数据，必须在日本建立质量保证指南。此外，新的DNA测序技术也需要引入法医领域。

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.