Developing criteria and data to determine best options for expanding the core CODIS loci.
Developing criteria and data to determine best options for expanding the core CODIS loci.
复制标题
DOI：
10.1186/2041-2223-3-1
复制
发表时间：
2012-01-06
期刊：
影响因子：
--
通讯作者：
Budowle B
中科院分区：
文献类型：
--
作者：
Ge J;Eisenberg A;Budowle B
最近，由美国联邦调查局（FBI）成立的联合DNA索引系统（CODIS）核心基因座工作组审查并建议对CODIS核心基因座进行修改。工作组确定了20个短串联重复序列（STR）基因座（由原始CODIS核心集基因座（减去TPOX）、4个欧洲推荐基因座、PentaE和DYS 391组成）加上釉原蛋白标记作为新的核心集。在选择和确定核心位点之前，需要进行一些评估，以便为核心选择的最佳方案提供指导。当前和新提出的CODIS核心基因座集的性能进行了评估，在合理的大数据集的偶然命中率在单源配置文件比较，混合物比较和亲属关系搜索，并为国际数据共享的简化分析。每个位点的信息量（例如，匹配概率，平均亲属关系指数（阿基））和突变率是位点选择时要考虑的一些标准。然而，主要因素是与挑战法医样品的性能。在已经验证的商业试剂盒中提供的当前基因座组满足了单源概况比较和国际数据共享的需要，即使是相对较大的数据库。然而，13个CODIS核心基因座是不够强大的亲缘关系分析和搜索潜在的贡献者的混合物在更大的数据库，19个或更多的常染色体STR基因座表现更好。Y染色体STR（Y-STR）基因座对于追踪父系谱系、解卷积女性和男性混合物以及解决与釉原蛋白分型的不一致非常有用。DYS 391基因座在理论上和实际上都没有什么用处。将五个或六个Y染色体STR基因座与现有的常染色体STR基因座相结合，可以产生比用于亲属分析的相同数量的常染色体基因座更好的性能，并且仍然产生足够低的匹配概率用于单源谱比较。应开展更全面的研究，为决策者和利益攸关方提供关于为联合数据系统构建一套新的核心基因座的必要信息。最后，基因座的选择应该受到这样一个概念的驱动，即案例工作的需要应该得到CODIS（或任何法医DNA数据库）的支持。
Recently, the Combined DNA Index System (CODIS) Core Loci Working Group established by the US Federal Bureau of Investigation (FBI) reviewed and recommended changes to the CODIS core loci. The Working Group identified 20 short tandem repeat (STR) loci (composed of the original CODIS core set loci (minus TPOX), four European recommended loci, PentaE, and DYS391) plus the Amelogenin marker as the new core set. Before selecting and finalizing the core loci, some evaluations are needed to provide guidance for the best options of core selection. The performance of current and newly proposed CODIS core loci sets were evaluated with simplified analyses for adventitious hit rates in reasonably large datasets under single-source profile comparisons, mixture comparisons and kinship searches, and for international data sharing. Informativeness (for example, match probability, average kinship index (AKI)) and mutation rates of each locus were some of the criteria to consider for loci selection. However, the primary factor was performance with challenged forensic samples. The current battery of loci provided in already validated commercial kits meet the needs for single-source profile comparisons and international data sharing, even with relatively large databases. However, the 13 CODIS core loci are not sufficiently powerful for kinship analyses and searching potential contributors of mixtures in larger databases; 19 or more autosomal STR loci perform better. Y-chromosome STR (Y-STR) loci are very useful to trace paternal lineage, deconvolve female and male mixtures, and resolve inconsistencies with Amelogenin typing. The DYS391 locus is of little theoretical or practical use. Combining five or six Y-chromosome STR loci with existing autosomal STR loci can produce better performance than the same number of autosomal loci for kinship analysis and still yield a sufficiently low match probability for single-source profile comparisons. A more comprehensive study should be performed to provide the necessary information to decision makers and stakeholders about the construction of a new set of core loci for CODIS. Finally, selection of loci should be driven by the concept that the needs of casework should be supported by the processes of CODIS (or for that matter any forensic DNA database).