Mo Shao-Kang, Fan Qing-Wei, Ma Xiao-Yan, Zhang Yue-Wen, Jiao Meng-Wen, Wang Ling, Yan Jiang-Wei
Department of Reproductive Center, The 940th Hospital of Joint Logistic Support Force of Chinese People's Liberation Army, Lanzhou 730050, China.
School of Forensic Medicine, Shanxi Medical University, Taiyuan 030001, China; Institute of Basic Medicine and Forensic Medicine, North Sichuan Medical College, Nanchong 637000, China.
Forensic Sci Int Genet. 2025 Jan;74:103162. doi: 10.1016/j.fsigen.2024.103162. Epub 2024 Oct 12.
Kinship testing, which involves genotyping genetic markers and comparing their profiles between individuals, holds significant applications in forensic science. However, the prevalent use of independent markers often lacks the discriminatory power to distinguish pedigrees belong to the same kinship class. While numerous studies have attempted to address this challenge through diverse approaches, the testing efficacy of high-density SNP microarrays in combination with the likelihood approach remains unclear. In this study, we further explored the utilization of linked autosomal SNPs derived from microarrays with the likelihood approach. Several SNP panels with differing numbers of loci were developed and putative pedigrees were constructed to evaluated to test their efficacy in distinguishing second-degree relationships, including grandparent-grandchild, half-siblings, and avuncular. Our findings indicate that the use of high-density SNP microarrays is theoretically feasible for discriminating second-degree relationships, with balanced classification rates ranging from 0.444 to 0.853. Moreover, to optimize the practical effectiveness of discriminating pedigrees belonging to the same kinship class, several other aspects such as adding additional SNPs or an additional relative and examining the effects of genotype errors and population selection were discussed. Our results revealed that the employment of denser marker sets with more accurate genotyping methods may be beneficial. Additionally, the inclusion of additional relatives and the selection of an appropriate reference population also appear to be crucial factors for enhancing the accuracy of kinship testing. In conclusion, our study provides insights into the potential of high-density SNPs in kinship testing and highlights the need for further optimization and examination into various factors that may contribute to enhancing testing efficacy.
亲缘关系检测涉及对遗传标记进行基因分型并比较个体之间的图谱,在法医学中具有重要应用。然而,独立标记的普遍使用往往缺乏区分属于同一亲缘关系类别的谱系的鉴别力。尽管众多研究试图通过各种方法应对这一挑战,但高密度SNP微阵列与似然法相结合的检测效果仍不明确。在本研究中,我们进一步探索了将微阵列衍生的连锁常染色体SNP与似然法结合使用。开发了几个具有不同位点数目的SNP面板,并构建了假定谱系以评估其在区分二级亲属关系(包括祖孙、半同胞和叔侄)方面的效果。我们的研究结果表明,使用高密度SNP微阵列在理论上对于区分二级亲属关系是可行的,平衡分类率在0.444至0.853之间。此外,为了优化区分属于同一亲缘关系类别的谱系的实际效果,还讨论了其他几个方面,如添加额外的SNP或额外的亲属以及检查基因型错误和群体选择的影响。我们的结果显示,采用更密集的标记集和更准确的基因分型方法可能是有益的。此外,纳入额外的亲属和选择合适的参考群体似乎也是提高亲缘关系检测准确性的关键因素。总之,我们的研究揭示了高密度SNP在亲缘关系检测中的潜力,并强调了进一步优化和研究可能有助于提高检测效果的各种因素的必要性。