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Development and improvement on practical examination using DNA polymorphisms in the field of Forensic Dentistry

法医牙科领域DNA多态性实际检验的发展和改进

基本信息

批准号：
14370701
负责人：
MIANGUCHI Kiyoshi
金额：
$ 5.18万
依托单位：
TOKYO DENTAL COLLEGE
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
2002
资助国家：
日本
起止时间：
2002 至 2004
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-14370701/
关键词：
Mitochondrial DNA polymorphism Y chromosomal DNA polymorphisms Phylogenetic differentiation Degraded DNA Microsatellite polymorphisms SNPs Material examination Estimation of geographic origin ミトコンドリア DNA多型系統分類日本人とマレー人高度変性DNA 個

项目摘要

The purpose of this study is developing and improving practicable and reliable methods to detect DNA polymorphisms using highly degraded DNA sources in forensic casework. In the first year, we established the most detailed mtDNA phylogeny in the Japanese population and identified 33 haplogroups including 3 new lineages in 211 unrelated individuals. In the following years, we further investigated 79 coding region polymorphisms of mtDNA and classified 211 individuals into 197 types composed of 106 haplogroup lineages based on the information of almost whole mtDNA genome. We further increased 80 Japanese database and also found 9 new haplogroup lineages in 30 Malay individuals. Y chromosomal polymorphisms were investigated in 263 individuals in the Japanese population. We established the most detailed Y chromosomal phylogeny in the Japanese population using 40 kinds of biallelic markers and also examined 16 kinds of Y-STRs. These studied made it possible to estimate binary haplogroups using STR haplotypes. We also found that the hypervariable polymorphic locus 47z is very informative to estimate Y chromosomal binary haplogroups. These data showed that the information of mtDNA and Y chromosomal polymorphisms was useful not only for personal identification but also for geographic estimation in forensic casework. We investigated the influence of template DNA degradation on the genotyping of DNA polymorphisms and showed that the examination of SNPs is more reliable than that of STR polymorphisms. We further investigated polymorphisms on salivary protein gene family and conducted basic research related to clinical dentistry using recombinant polymorphic proteins. As mentioned above, we showed in this study that SNPs is more reliable for analysis on highly degraded DNAs. Thus we increased information of SNPs mainly on mtDNA and Y chromosomal DNA polymorphisms. We believe that we have developed highly useful methods of DNA analysis for practical Forensic Dentistry.

本研究的目的是开发和改进实用且可靠的方法，以在法医案件工作中使用高度降解的 DNA 源检测 DNA 多态性。第一年，我们在日本人群中建立了最详细的 mtDNA 系统发育，并鉴定了 33 个单倍群，其中包括 211 个无关个体的 3 个新谱系。在接下来的几年里，我们进一步研究了线粒体DNA的79个编码区多态性，并根据几乎整个线粒体DNA基因组的信息，将211个个体分为197个类型，由106个单倍群谱系组成。我们进一步增加了80个日本数据库，并在30个马来个体中发现了9个新的单倍群谱系。对日本人群中 263 名个体的 Y 染色体多态性进行了研究。我们使用 40 种双等位标记建立了日本人群中最详细的 Y 染色体系统发育，并检查了 16 种 Y-STR。这些研究使得使用 STR 单倍型估计二元单倍群成为可能。我们还发现，高变多态位点 47z 对于估计 Y 染色体二元单倍群非常有用。这些数据表明，线粒体DNA和Y染色体多态性信息不仅可用于个人身份识别，还可用于法医案件中的地理估计。我们研究了模板 DNA 降解对 DNA 多态性基因分型的影响，结果表明 SNP 检测比 STR 多态性检测更可靠。我们进一步研究了唾液蛋白基因家族的多态性，并利用重组多态性蛋白进行了与临床牙科相关的基础研究。如上所述，我们在这项研究中表明，SNP 对于高度降解的 DNA 的分析更为可靠。因此我们增加了主要关于mtDNA和Y染色体DNA多态性的SNP信息。我们相信，我们已经为实用法医牙科开发了非常有用的 DNA 分析方法。