Armed Forces DNA Identification Laboratory, Armed Forces Institute of Pathology, 1413 Research Blvd., Rockville, MD 20850, USA.
Forensic Sci Int Genet. 2011 Jun;5(3):222-5. doi: 10.1016/j.fsigen.2010.02.008. Epub 2010 Apr 13.
Mitochondrial DNA (mtDNA) testing in the forensic context requires appropriate, high quality population databases for estimating the rarity of questioned haplotypes. Currently, however, available forensic mtDNA reference databases only include information from the mtDNA control region. While this information is obviously strengthening the foundation upon which current mtDNA identification efforts are based, these data do not adequately prepare the field for recent and rapid advancements in mtDNA typing technologies. Novel tools that quickly and easily permit access to mtDNA coding region data for increased discrimination are now available in the form of single nucleotide polymorphism assays, sequence specific oligonucleotide probes, mass spectrometry instrumentation and next generation sequencing technologies. However, the randomly sampled entire mtGenome reference population data required for statistical interpretation of coding region data are lacking. As a result, in the near future, it seems that routine use of mtDNA coding region data in forensic case work will depend more upon the availability of high-quality entire mtGenome population reference data than the ease with which coding region data can be generated from evidence specimens. Until mtGenome reference databases are available, the utility of novel mtDNA typing technologies and the benefits of recovering mtDNA coding region information from forensic specimens will be limited. Thus, future mtDNA databasing efforts are needed for the development of entire mtDNA genome reference population data suitable for forensic comparisons.
在法医鉴定中，线粒体 DNA（mtDNA）检测需要合适的、高质量的人群数据库，以估计有疑问的单倍型的罕见程度。然而，目前可用的法医 mtDNA 参考数据库仅包含 mtDNA 控制区的信息。虽然这些信息显然加强了当前 mtDNA 鉴定工作的基础，但这些数据并不能为 mtDNA 分型技术的最新快速发展做好充分准备。现在，一些新的工具可以快速、轻松地获取 mtDNA 编码区数据，从而提高区分度，这些工具包括单核苷酸多态性检测、序列特异性寡核苷酸探针、质谱仪器和下一代测序技术。然而，目前还缺乏进行编码区数据分析所需的、基于随机抽样的整个 mtGenome 参考人群数据。因此，在不久的将来，在法医案件工作中常规使用 mtDNA 编码区数据似乎更多地取决于高质量的整个 mtGenome 人群参考数据的可用性，而不是从证据样本中生成编码区数据的难易程度。在 mtGenome 参考数据库可用之前，新型 mtDNA 分型技术的实用性以及从法医样本中恢复 mtDNA 编码区信息的好处将受到限制。因此，需要进行未来的 mtDNA 数据库建设工作，以开发适合法医比较的整个 mtDNA 基因组参考人群数据。
