Analysis of global variability in 15 established and 5 new European Standard Set (ESS) STRs using the CEPH human genome diversity panel
Analysis of global variability in 15 established and 5 new European Standard Set (ESS) STRs using the CEPH human genome diversity panel
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DOI：
10.1016/j.fsigen.2010.02.003
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发表时间：
2011-06-01
影响因子：
3.1
通讯作者：
Lareu, M. V.
中科院分区：
文献类型：
--
作者：
Phillips, C.;Fernandez-Formoso, L.;Lareu, M. V.
使用CEPH人类基因组多样性细胞系面板(CEPH-HGDP)对全球分布的51个群体的20个核心人类识别短串联重复序列的变异模式进行了分析。分型的标记包括最广泛使用的法医STR多路复制体之一的Identifiler的15个STR，以及最近推出的5个欧洲标准集(ESS)STR：D1S1656、D2S441、D10S1248、D12S391和D22S1045。从获得的ESS STR的基因类型中，我们发现了以前没有报道过的罕见、中间或阶梯外等位基因。通过序列分析对发现的新的ESS STR等位基因进行了表征。这揭示了三个ESS STR中广泛的重复结构变异，其中D12S391在AGAT和AGAC重复单元的串联运行中表现出特别高的变异性。CEPH小组样本的全球地理分布使我们有机会详细研究20个STR在种群之间及其母种群之间所显示的亚结构程度。对新的ESS STR的法医信息量与它们将要取代的座位CSF1PO、D5S818、D7S820、D13S317和TPOX进行了比较，结果表明，使用对新的ESS基因座进行基因分型的多重基因，辨别力明显增强。我们还测量了Identifiler和ESS STR推断CEPH-HGDP样本祖先的能力，并证明在大型复合体中的法医STR具有区分主要群体的潜力，但只有在与其他祖先信息标记(如单核苷酸多态)一起使用时才具有足够的可靠性。最后，我们通过检查来自完整CEPH数据集的配对基因，检查了紧密位于染色体12上的两个ESS多重STR之间的可能的关联：VWA和D12S391。(C)2010爱思唯尔爱尔兰有限公司。保留所有权利。
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. (C) 2010 Elsevier Ireland Ltd. All rights reserved.