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FBI CODIS 核心 STR 基因座扩展对家族 DNA 数据库搜索的影响。

The effect of FBI CODIS Core STR Loci expansion on familial DNA database searching.

机构信息

The European Center for Genetics and DNA Identification, DNAlogy. 98 Vouliagmenis Ave. Glyfada, 16674, Athens, Greece.

The European Center for Genetics and DNA Identification, DNAlogy. 98 Vouliagmenis Ave. Glyfada, 16674, Athens, Greece.

出版信息

Forensic Sci Int Genet. 2019 Nov;43:102129. doi: 10.1016/j.fsigen.2019.07.008. Epub 2019 Jul 27.

Abstract

1000 profiles chosen randomly from an in-house database of 6000 profiles were searched against the database for matches with at least one shared allele per locus. The database contains profiles that have been analyzed with Identifiler Plus (15 markers) for biological relationship and DNA identification purposes and both true and false matches are expected to be obtained. 100 pairs of at least one true paternity match and one false match were selected and were initially supplemented with 5 additional STRs representing the new Core CODIS set. Study of the LR value showed that when false matches were treated as paternity matches, the expansion of the marker set severely diminished the LR values obtained compared to true matches and the false positive ratio of familial database searching. When false matches were treated as full-sibling matches, the expansion to 20 STRs also diminished the number of false matches and the corresponding LR values compared to true full-sibling cases, but the effect was less dramatic. Addition of the SE33 marker, further promoted distinction between true and false matches both in paternity and full-sibling cases. Counting the number of shared alleles presented improved distinction efficiency between true and false matches after STR expansion to20 and 21 STRs but remains a less valuable method of familial DNA database searching compared to LR.

摘要

从 6000 个样本的内部数据库中随机选择 1000 个样本,在数据库中搜索每个基因座至少有一个共享等位基因的匹配样本。该数据库包含已使用 Identifiler Plus(15 个标记)进行生物关系和 DNA 鉴定分析的样本,预计会获得真实和假匹配。选择了至少 100 对真正的父子匹配和 1 对假匹配,并最初补充了 5 个代表新核心 CODIS 集的额外 STR。LR 值的研究表明,当假匹配被视为亲子关系匹配时,与真实匹配和家族数据库搜索的假阳性率相比,标记集的扩展严重降低了 LR 值。当假匹配被视为全同胞匹配时,扩展到 20 个 STR 也减少了假匹配的数量和相应的 LR 值与真实的全同胞病例相比,但效果不那么显著。添加 SE33 标记,进一步促进了亲子和全同胞案例中真实和假匹配之间的区分。在 STR 扩展到 20 个和 21 个 STR 后,计算共享等位基因的数量可以提高真实和假匹配之间的区分效率,但与 LR 相比,它仍然是一种不太有价值的家族 DNA 数据库搜索方法。

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