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STRs vs. SNPs: thoughts on the future of forensic DNA testing

机译:STR与SNP:法医DNA测试的未来思考

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摘要

Largely due to technological progress coming from the Human Genome and International HapMap Projects, the issue has been raised in recent years within the forensic DNA typing community of the potential for single nucleotide polymorphism (SNP) markers as possible replacements of the currently used short tandem repeat (STR) loci. Our human identity testing project team at the U.S. National Institute of Standards and Technology (NIST) has explored numerous SNP and STR loci and assays as well as developing miniSTRs for degraded DNA samples. Based on their power of discrimination, use in deciphering mixture components, and ability to be combined in multiplex assays in order to recover information from low amounts of biological material, we believe that STRs rather than SNPs will fulfill the dominant role in human identity testing for the foreseeable future. However, SNPs may play a useful role in specialized applications such as mitochondrial DNA (mtDNA) testing, Y-SNPs as lineage markers, ancestry informative markers (AIMs), the prediction of phenotypic traits, and other potential niche forensic casework applications.
机译:很大程度上是由于人类基因组计划和国际HapMap项目的技术进步,近年来,在法医DNA分型社区中,单核苷酸多态性(SNP)标记有可能替代当前使用的短串联重复序列,从而引发了这一问题。 (STR)基因座。我们在美国国家标准技术研究院(NIST)的人类身份测试项目团队探索了许多SNP和STR基因座和分析方法,并开发了用于降解DNA样品的miniSTR。基于它们的辨别力,用于破译混合物成分的能力以及在多重分析中组合以从少量生物材料中回收信息的能力,我们认为STR(而非SNP)将在人类身份测试中发挥主导作用在可预见的未来。但是,SNP在特殊应用中可能发挥有用的作用,例如线粒体DNA(mtDNA)测试,作为谱系标记的Y-SNP,祖先信息标记(AIM),表型特征的预测以及其他潜在的利基法医案例研究应用。

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