Sequence variation of 22 autosomal STR loci detected by next generation sequencing.
Sequence variation of 22 autosomal STR loci detected by next generation sequencing.
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DOI：
10.1016/j.fsigen.2015.11.005
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发表时间：
2016-03
影响因子：
3.1
通讯作者：
Vallone, Peter M.
中科院分区：
文献类型：
--
作者：
Gettings, Katherine Butler;Kiesler, Kevin M.;Faith, Seth A.;Montano, Elizabeth;Baker, Christine H.;Young, Brian A.;Guerrieri, Richard A.;Vallone, Peter M.
通过对短串联重复序列(STR)基因座进行测序，可以确定STR(或整个PCR扩增片段)内的重复基序变异，这是基于大小的PCR片段分析无法确定的。Sanger测序已经在研究实验室中用于进一步表征STR基因座，但对于常规的法医应用是不切实际的，因为通常这一过程的繁琐性质以及分离杂合等位基因需要额外的步骤。文库制备方法的最新进展使高通量下一代测序(NGS)成为可能，测序化学的技术进步现在提供了足够的阅读长度来包含STR等位基因。在这里，我们介绍了183个DNA样本的测序结果，包括非裔美国人、高加索人和西班牙人，22个常染色体法医STR基因座，使用的是为NGS设计的分析方法。所得到的数据集已经被用来执行按长度与序列相比的等位基因多样性的群体遗传分析，并举例说明了哪些基因座可能通过测序在区分方面获得最大的收益。在这个数据集中，有6个基因座的等位基因数量比通过长度获得的等位基因数量多一倍以上：D12S391、D2S1338、D21S11、D8S1179、VWA和D3S1358。正如预期的那样，鉴定了以前在法医文献中没有报道的重复区域序列。
Sequencing short tandem repeat (STR) loci allows for determination of repeat motif variations within the STR (or entire PCR amplicon) which cannot be ascertained by size-based PCR fragment analysis. Sanger sequencing has been used in research laboratories to further characterize STR loci, but is impractical for routine forensic use due to the laborious nature of the procedure in general and additional steps required to separate heterozygous alleles. Recent advances in library preparation methods enable high-throughput next generation sequencing (NGS) and technological improvements in sequencing chemistries now offer sufficient read lengths to encompass STR alleles. Herein, we present sequencing results from 183 DNA samples, including African American, Caucasian, and Hispanic individuals, at 22 autosomal forensic STR loci using an assay designed for NGS. The resulting dataset has been used to perform population genetic analyses of allelic diversity by length compared to sequence, and exemplifies which loci are likely to achieve the greatest gains in discrimination via sequencing. Within this data set, six loci demonstrate greater than double the number of alleles obtained by sequence compared to the number of alleles obtained by length: D12S391, D2S1338, D21S11, D8S1179, vWA, and D3S1358. As expected, repeat region sequences which had not previously been reported in forensic literature were identified.
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影响因子：
3.1
作者：
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