Kelly Hannah, Coble Michael, Kruijver Maarten, Wivell Richard, Bright Jo-Anne
Institute of Environmental Science and Research Limited, Auckland, New Zealand.
Center for Human Identification, Department of Microbiology, Immunology, and Genetics, University of North Texas Health Science Center, Fort Worth, Texas, USA.
J Forensic Sci. 2022 May;67(3):1167-1175. doi: 10.1111/1556-4029.15020. Epub 2022 Feb 24.
Relatives tend to have more DNA in common than unrelated people. The closer the biological relationship, the higher the chance of alleles being identical by descent between the individuals. Therefore, when considering a mixed DNA profile, close relatives of the true contributor may not always be excluded as a possible contributor to a mixture due to allele sharing. In these situations, it might be more appropriate under the alternate proposition to consider that the DNA could have originated from a relative of the person of interest rather than an unrelated individual. The probabilistic genotyping software STRmix™ automatically provides LRs considering close biological relatives as alternate sources of the DNA. In this paper, we investigate the support for siblings of the true contributor to a mixture (who are not present in the mixture themselves). We interpret the mixtures and assign LRs using STRmix™ and investigate whether the resulting LRs could be used to indicate whether the true contributor could be a sibling of the POI. Most siblings will have one or more alleles that are not observed in the mixture profile. Support for siblings to have contributed can only occur when allelic dropout is a possibility at the loci where the siblings have alleles that are not observed in the profile. In these data, that was only observed in components with assigned template of 588 rfu or less.
亲属往往比非亲属拥有更多相同的DNA。生物关系越密切,个体之间因遗传而具有相同等位基因的可能性就越高。因此,在考虑混合DNA图谱时,由于等位基因共享,真正贡献者的近亲作为混合样本的可能贡献者并不总是能被排除。在这些情况下,在备择假设下,认为DNA可能来自感兴趣人员的亲属而非无关个体可能更为合适。概率基因分型软件STRmix™会自动提供似然比(LRs),将密切的生物亲属视为DNA的备择来源。在本文中,我们研究了对混合样本真正贡献者的兄弟姐妹(他们本身不在混合样本中)的支持情况。我们使用STRmix™解释混合样本并分配似然比,研究所得的似然比是否可用于表明真正的贡献者是否可能是感兴趣人员的兄弟姐妹。大多数兄弟姐妹会有一个或多个等位基因未在混合样本图谱中出现。只有当在兄弟姐妹具有未在图谱中出现的等位基因的位点存在等位基因缺失的可能性时,才会支持兄弟姐妹作出了贡献。在这些数据中,这仅在指定模板为588 rfu或更低的组分中观察到。