Background

Massively parallel sequencing (MPS) technology has recently been introduced in research, clinical diagnostics, and forensics. MPS enables determination of the genotypes of multiple short tandem repeat (STR) markers and to determine nucleotide sequence variations, additionally.

Objective

To improve STR analysis and a paternity index, a new, smaller-sized STR panel was designed that includes the SE33 locus.

Methods

This study performed MPS using an STR panel including the SE33 marker in 101 Koreans. The concordance study was conducted by comparing the data obtained from the MPS assay with the results of a capillary electrophoresis (CE)-based method.

Results

In this study, an in-house MPS panel is designed that incorporates the 20 Combined DNA Index System (CODIS) loci and the Penta D, Penta E, and SE33 markers for enhanced discriminatory ability. The data obtained via MPS analysis were compared with CE data to confirm concordance. Fifty previously unreported alleles were detected through the MPS analysis. Three new SNP variations in the flanking region were also identified. Statistical analysis demonstrated that the SE33 marker was most effectively determined the match probability (PM) and typical paternity index (TPI). In the sensitivity study, concentrations as low as 80 pg could be used to obtain full and concordant profiles.

Conclusions

We designed a new, smaller-sized STR panel that includes the SE33 locus to improve STR analysis and the paternity index. Various new alleles were identified in SE33, indicating a high degree of polymorphism. The panel is expected to provide valid data for discrimination of unidentified bodies.

中文翻译：

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韩国人包括 SE33 标记的 25 个短串联重复基因座的大规模平行测序

背景

大规模并行测序 (MPS) 技术最近已被引入研究、临床诊断和法医学。MPS 能够确定多个短串联重复 (STR) 标记的基因型，并另外确定核苷酸序列变异。

客观的

为了改进 STR 分析和亲子鉴定，设计了一个新的、更小尺寸的 STR 面板，其中包括 SE33 基因座。

方法

本研究使用包含 SE33 标记的 STR 面板对 101 名韩国人进行 MPS。一致性研究是通过将从 MPS 测定获得的数据与基于毛细管电泳 (CE) 的方法的结果进行比较来进行的。

结果

在这项研究中，设计了一个内部 MPS 面板，其中包含 20 个组合 DNA 索引系统 (CODIS) 基因座和 Penta D、Penta E 和 SE33 标记，以增强区分能力。通过 MPS 分析获得的数据与 CE 数据进行比较以确认一致性。通过 MPS 分析检测到 50 个以前未报告的等位基因。还鉴定了侧翼区域中的三个新的 SNP 变异。统计分析表明，SE33 标记最有效地确定了匹配概率 (PM) 和典型亲子关系指数 (TPI)。在敏感性研究中，可使用低至 80 pg 的浓度来获得完整且一致的曲线。

结论

我们设计了一个新的、更小尺寸的 STR panel，其中包括 SE33 基因座，以改进 STR 分析和亲子关系指数。在 SE33 中鉴定出各种新的等位基因，表明具有高度的多态性。预计该小组将提供有效数据以区分身份不明的尸体。