Department of Forensic Molecular Biology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Forensic Sci Int Genet. 2012 Jul;6(4):425-36. doi: 10.1016/j.fsigen.2011.08.010. Epub 2011 Sep 22.
Human mitochondrial DNA (mtDNA) is a convenient marker for tracing matrilineal bio-geographic ancestry and is widely applied in forensic, genealogical and anthropological studies. In forensic applications, DNA-based ancestry inference can be useful for finding unknown suspects by concentrating police investigations in cases where autosomal STR profiling was unable to provide a match, or can help provide clues in missing person identification. Although multiplexed mtDNA single nucleotide polymorphism (SNP) assays to infer matrilineal ancestry at a (near) continental level are already available, such tools are lacking for the Oceania region. Here, we have developed a hierarchical system of three SNaPshot multiplexes for genotyping 26 SNPs defining all major mtDNA haplogroups for Oceania (including Australia, Near Oceania and Remote Oceania). With this system, it was possible to conclusively assign 74% of Oceanian individuals to their Oceanian matrilineal ancestry in an established literature database (after correcting for obvious external admixture). Furthermore, in a set of 161 genotyped individuals collected in Australia, Papua New Guinea and Fiji, 87.6% were conclusively assigned an Oceanian matrilineal origin. For the remaining 12.4% of the genotyped samples either a Eurasian origin was detected indicating likely European admixture (1.9%), the identified haplogroups are shared between Oceania and S/SE-Asia (5%), or the SNPs applied did not allow a geographic inference to be assigned (5.6%). Sub-regional assignment within Oceania was possible for 32.9% of the individuals genotyped: 49.5% of Australians were assigned an Australian origin and 13.7% of the Papua New Guineans were assigned a Near Oceanian origin, although none of the Fijians could be assigned a specific Remote Oceanian origin. The low assignment rates of Near and Remote Oceania are explained by recent migrations from Asia via Near Oceania into Remote Oceania. Combining the mtDNA multiplexes for Oceania introduced here with those we developed earlier for all other continental regions, global matrilineal bio-geographic ancestry assignment from DNA is now achievable in a highly efficient way that is also suitable for applications with limited material such as forensic case work.
人类线粒体 DNA（mtDNA）是追踪母系生物地理起源的便捷标记物，广泛应用于法医学、家谱学和人类学研究。在法医学应用中，基于 DNA 的祖先推断可用于通过集中调查警察在常染色体 STR 分析无法提供匹配的情况下的未知嫌疑人，或者有助于在失踪人员识别中提供线索。尽管已经有用于推断（近）大陆水平母系祖先的多重 mtDNA 单核苷酸多态性（SNP）分析，但该工具在大洋洲地区尚不可用。在这里，我们开发了一个三plex SNaPshot 系统，用于对 26 个 SNP 进行基因分型，这些 SNP 定义了大洋洲的所有主要 mtDNA 单倍群（包括澳大利亚、近大洋洲和远大洋洲）。通过该系统，在一个已建立的文献数据库中，可以将 74%的大洋洲个体明确分配给他们的大洋洲母系祖先（在纠正明显的外部混合后）。此外，在从澳大利亚、巴布亚新几内亚和斐济收集的 161 个个体中，87.6%的个体被明确分配了大洋洲母系起源。对于其余 12.4%的已分型样本，要么检测到欧亚起源，表明可能存在欧洲混合（1.9%），要么所鉴定的单倍群在大洋洲和东南亚/南亚共享（5%），要么应用的 SNP 不允许进行地理推断（5.6%）。对于已分型的个体，可进行大洋洲次区域分配：32.9%的个体被分配到澳大利亚起源，49.5%的澳大利亚人被分配到澳大利亚起源，13.7%的巴布亚新几内亚人被分配到近大洋洲起源，尽管没有一个斐济人可以被分配到特定的远大洋洲起源。近大洋洲和远大洋洲的分配率较低，是因为最近有来自亚洲的移民通过近大洋洲进入远大洋洲。将本文中介绍的大洋洲 mtDNA 多重分析与我们之前为所有其他大陆地区开发的多重分析相结合，现在可以通过一种高效的方式从 DNA 中进行全球母系生物地理祖先分配，这种方式也适用于法医等材料有限的应用。
