Department of Legal Medicine, Kansai Medical University, 2-5-1 Shin-machi, Hirakata, Osaka 573-1010, Japan.
Fourth Biological Section, National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan.
Leg Med (Tokyo). 2022 Feb;54:101972. doi: 10.1016/j.legalmed.2021.101972. Epub 2021 Oct 3.
Probabilistic genotyping software based on continuous models is effective for interpreting DNA profiles derived from DNA mixtures and small DNA samples. In this study, we updated our previously developed Kongoh software (to ver. 3.0.1) to interpret DNA profiles typed using the GlobalFiler™ PCR Amplification Kit. Recently, highly sensitive typing systems such as the GlobalFiler system have facilitated the detection of forward, double-back, and minus 2-nt stutters; therefore, we implemented statistical models for these stutters in Kongoh. In addition, we validated the new version of Kongoh using 2-4-person mixtures and DNA profiles with degradation in the GlobalFiler system. The likelihood ratios (LRs) for true contributors and non-contributors were well separated as the information increased (i.e., larger peak height and fewer contributors), and these LRs tended to neutrality as the information decreased. These trends were observed even in profiles with DNA degradation. The LR values were highly reproducible, and the accuracy of the calculation was also confirmed. Therefore, Kongoh ver. 3.0.1 is useful for interpreting DNA mixtures and degraded DNA samples in the GlobalFiler system.
基于连续模型的概率基因分型软件对于解释来自 DNA 混合物和小 DNA 样本的 DNA 图谱非常有效。在这项研究中，我们更新了之前开发的 Kongoh 软件（版本 3.0.1），以解释使用 GlobalFiler™ PCR 扩增试剂盒进行的 DNA 图谱分型。最近，像 GlobalFiler 系统这样的高灵敏度分型系统促进了正向、双回退和减 2-nt 嵌合的检测；因此，我们在 Kongoh 中为这些嵌合体实现了统计模型。此外，我们使用 GlobalFiler 系统中的 2-4 人混合物和 DNA 降解图谱验证了新版本的 Kongoh。随着信息量的增加（即峰高更大且贡献者更少），真实贡献者和非贡献者的似然比（LR）得到很好的分离，并且随着信息量的减少，这些 LR 趋于中立。即使在 DNA 降解的图谱中也观察到了这些趋势。LR 值具有高度可重复性，并且还确认了计算的准确性。因此，Kongoh 版本 3.0.1 可用于解释 GlobalFiler 系统中的 DNA 混合物和降解的 DNA 样本。
