Abstract:
Kinship inference has been a major issue in forensic genetics, and it remains to be solved when there is no prior hypothesis and the relationships between multiple individuals are unknown. In this study, we genotyped 91 microhaplotypes from 46 pedigree samples using massive parallel sequencing and inferred their relatedness by calculating the likelihood ratio (LR). Based on simulated and real data, different treatments were applied in the presence and absence of relatedness assumptions. The pedigree of multiple individuals was reconstructed by calculating pedigree likelihoods based on real pedigree samples. The results showed that the 91 MHs could discriminate pairs of second-degree relatives from unrelated individuals. And more highly polymorphic loci were needed to discriminate the pairs of second-degree or more distant relative from other degrees of relationship, but correct classification could be obtained by expanding the suspected relationship searched to other relationships with lower LR values. Multiple individuals with unknown relationships can be successfully reconstructed if they are closely related. Our study provides a solution for kinship inference when there are no prior assumptions, and explores the possibility of pedigree reconstruction when the relationships of multiple individuals are unknown.
摘要:
亲属关系推断一直是法医遗传学中的一个主要问题,当没有先验假设并且多个个体之间的关系未知时,它仍有待解决。在这项研究中,我们使用大规模平行测序对46份谱系样本中的91个微单倍型进行了基因分型,并通过计算似然比(LR)推断了它们的相关性.根据模拟和真实数据,在存在和不存在相关性假设的情况下,采用不同的治疗方法.通过基于真实谱系样本计算谱系可能性来重建多个个体的谱系。结果表明,91MHs可以将二级亲属与无关个体区分开来。并且需要更高的多态性位点来区分二度或更远的亲戚与其他程度的关系,但是可以通过将搜索的可疑关系扩展到具有较低LR值的其他关系来获得正确的分类。如果他们密切相关,则可以成功重建具有未知关系的多个个体。我们的研究为没有先验假设的亲属关系推断提供了解决方案,并探讨了当多个个体的关系未知时进行谱系重建的可能性。