著者
山本 敏充 玉木 敬二 打樋 利英子 勝又 義直
出版者
名古屋大学
雑誌
基盤研究(C)
巻号頁・発行日
2001

ヒトY染色体上のDNAマーカーであるY-STRs (short tandem repeat)やY-SNPs (一塩基多型:single nucleotide polymorphisms)は、法医学で、同胞鑑定や性的事件などにおける男性由来の型を検出する目的として利用されつつある。アメリカ合衆国NISTが開発した10ローカス(DYS436、DYS439、DYS435、DYS19、DYS460、Y GATA H4、DYS391、DYS392、DYS438、DYS437)のY-STRをマルチプレックス法により型判定できるシステム(10-plex)及び市販のY-PLEX6キット(DYS393、DYS19、DYS389、DYS390、DYS391、DYS385)を用いて、日本人(名古屋207名、沖縄87名)及びタイ人(117名)について、共通な2ローカスを除く14ローカスのハプロタイプ解析を行った。また、非常に情報量が少ないDYS436をMinimal Databaseに含まれるDYS389Iに入れ換え、改良型の10-plexシステムを作製した。この改良型10-Plexによる14ローカスを用いて、父子関係が証明されている日本人の161組の父子DNA試料から型判定したところ、5例の突然変異が観察された。その内訳は、DYS389I、DYS439、Y-GATA-H4及びDYS389IIローカスで、1リピートの増加、DYS391ローカスで、1リピートの減少であった。このY-STR全体の突然変異率は、0.22%/ローカス/減数分裂(95%信頼区間0.09-0.51%)で、ヨーロッパ人とほぼ同じ値であることが示唆された。本研究での目的の一つである日本人におけるY染色体上のDNAマーカーの突然変異率を算定することは達成できた。
著者
真鍋 翔 玉木 敬二
出版者
日本法科学技術学会
雑誌
日本法科学技術学会誌 (ISSN:18801323)
巻号頁・発行日
pp.r021, (Released:2019-12-28)
参考文献数
48
被引用文献数
2 2

In forensic science, the interpretation of DNA mixture profiles and small amounts or degraded DNA profiles is challenging due to difficulties in evaluating the contribution of the person of interest (e.g., victim and suspect). In recent years, some probabilistic genotyping software programs based on a continuous model were developed to promote the interpretation of complex DNA profiles. The model uses quantitative information of peak heights in the DNA profile and considers the effect of stutters and allelic drop-out. Therefore, the model is effective for interpreting complex DNA profiles, and some software based on the model that has been applied to actual caseworks. This review provides the concept of probabilistic genotyping based on a continuous model. We explain calculation principles of likelihood ratios, weight values, and expected peak heights in the continuous model. We also discuss the current issues of software validation, management of artifact peaks, and the estimation of the number of contributors.
著者
江川 司 矢山 和宏 小谷 泰一 石井 益子 阿比留 仁 玉木 敬二
出版者
日本法科学技術学会
雑誌
日本法科学技術学会誌 (ISSN:18801323)
巻号頁・発行日
vol.23, no.2, pp.113-124, 2018

&emsp;Forensic biologists are increasingly likely to identify an individual using three-dimensional imaging equipment. Existing equipment requires taking the subjects to the place where the equipment is located. In recent years, a non-contact, hand-held three-dimensional color scanner has been developed that is compact and lightweight. Therefore, we already use it for facial recognition and cranio-facial superimposition. The three-dimensional scanner reconstructed skull images precisely, and the anthropological measurements obtained from the images were comparable to those obtained from actual skulls (the differences in measurements were less than 1mm). Furthermore, the skull images produced by the scanner corresponded with high accuracy to the three-dimensional images reconstructed using computed tomography (concordance rates were approximately 95%) and to the two-dimensional facial photographs of the same person (the differences were less than the standard value 2.5mm for the reciprocal point-to-point matching). In addition to the skull images, the three-dimensional scanner precisely reconstructed facial images of living people. The three-dimensional facial images approximately corresponded to the two-dimensional facial photographs of the same people taken from both the vertical direction and from a bird's-eye view (the difference were less than the standard values, 0.9mm for the outline matching and 2.5mm for the reciprocal point-to-point matching). In conclusion, the current study confirmed that the non-contact, hand-held three-dimensional color scanner can provide forensic biologists with precise three-dimensional images of both skulls and living people's faces and that the images are of sufficiently good quality to be put to practical use as the quality of conventional stationary type.<br>