Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain.
Forensic Sci Int Genet. 2011 Jun;5(3):155-69. doi: 10.1016/j.fsigen.2010.02.003. Epub 2010 Mar 5.
The CEPH human genome diversity cell line panel (CEPH-HGDP) of 51 globally distributed populations was used to analyze patterns of variability in 20 core human identification STRs. The markers typed comprised the 15 STRs of Identifiler, one of the most widely used forensic STR multiplexes, plus five recently introduced European Standard Set (ESS) STRs: D1S1656, D2S441, D10S1248, D12S391 and D22S1045. From the genotypes obtained for the ESS STRs we identified rare, intermediate or off-ladder alleles that had not been previously reported for these loci. Examples of novel ESS STR alleles found were characterized by sequence analysis. This revealed extensive repeat structure variation in three ESS STRs, with D12S391 showing particularly high variability for tandem runs of AGAT and AGAC repeat units. The global geographic distribution of the CEPH panel samples gave an opportunity to study in detail the extent of substructure shown by the 20 STRs amongst populations and between their parent population groups. An assessment was made of the forensic informativeness of the new ESS STRs compared to the loci they will replace: CSF1PO, D5S818, D7S820, D13S317 and TPOX, with results showing a clear enhancement of discrimination power using multiplexes that genotype the new ESS loci. We also measured the ability of Identifiler and ESS STRs to infer the ancestry of the CEPH-HGDP samples and demonstrate that forensic STRs in large multiplexes have the potential to differentiate the major population groups but only with sufficient reliability when used with other ancestry-informative markers such as single nucleotide polymorphisms. Finally we checked for possible association by linkage between the two ESS multiplex STRs closely positioned on chromosome-12: vWA and D12S391 by examining paired genotypes from the complete CEPH data set.
CEPH 人类基因组多样性细胞系面板（CEPH-HGDP）由全球分布的 51 个人群组成，用于分析 20 个核心人类识别 STR 中的变异性模式。所分析的标记包括 Identifiler 中的 15 个 STR，这是最广泛使用的法医 STR 多重检测试剂盒之一，再加上最近引入的欧洲标准试剂盒（ESS）中的 5 个 STR：D1S1656、D2S441、D10S1248、D12S391 和 D22S1045。从 ESS STR 获得的基因型中，我们鉴定了以前未报道过这些基因座的罕见、中间或偏离梯级的等位基因。发现的新 ESS STR 等位基因的例子通过序列分析进行了特征描述。这揭示了三个 ESS STR 中广泛的重复结构变异，其中 D12S391 显示出 AGAT 和 AGAC 重复单元串联重复的特别高的变异性。CEPH 面板样本的全球地理分布使我们有机会详细研究 20 个 STR 在人群之间以及它们的母群之间的亚结构程度。评估了新的 ESS STR 相对于它们将要取代的基因座 CSF1PO、D5S818、D7S820、D13S317 和 TPOX 的法医信息量，结果显示使用对新 ESS 基因座进行基因分型的多重检测试剂盒明显增强了区分能力。我们还测量了 Identifiler 和 ESS STR 推断 CEPH-HGDP 样本祖先的能力，并证明大型多重检测试剂盒中的法医 STR 具有区分主要人群群体的潜力，但只有在与其他祖先信息标记（如单核苷酸多态性）一起使用时才具有足够的可靠性。最后，我们通过检查完整 CEPH 数据集的配对基因型，检查紧密位于染色体 12 上的两个 ESS 多重 STR 之间的连锁关系，即 vWA 和 D12S391，来检查是否存在关联。
