Butler John M, Coble Michael D, Vallone Peter M
National Institute of Standards and Technology, Biochemical Science Division, 100 Bureau Drive, Mail Stop 8311, Building 227, Room A243, Gaithersburg, MD, 20899, USA,
Forensic Sci Med Pathol. 2007 Sep;3(3):200-5. doi: 10.1007/s12024-007-0018-1. Epub 2007 Sep 12.
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.
很大程度上由于人类基因组计划和国际人类基因组单体型图计划带来的技术进步，近年来法医DNA分型领域提出了单核苷酸多态性（SNP）标记物有可能替代当前使用的短串联重复序列（STR）基因座的问题。我们美国国家标准与技术研究院（NIST）的人类身份识别测试项目团队已经探索了众多SNP和STR基因座及检测方法，还为降解的DNA样本开发了微型STR。基于它们的鉴别能力、用于解析混合样本成分的能力以及在多重检测中进行组合以便从少量生物材料中获取信息的能力，我们认为在可预见的未来，STR而非SNP将在人类身份识别测试中发挥主导作用。然而，SNP可能在诸如线粒体DNA（mtDNA）检测、作为谱系标记的Y-SNP、祖先信息标记（AIM）、表型特征预测以及其他潜在的特定法医案件工作应用等专门应用中发挥有益作用。
