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MtDNA SNP Multiplexes for Efficient Inference of Matrilineal Genetic Ancestry Within Oceania

NCJ Number
239560
Journal
Forensic Science International: Genetics Volume: 6 Issue: 4 Dated: July 2012 Pages: 425-436
Author(s)
Kaye N. Ballantyne; Mannis van Oven; Arwin Ralf; Mark Stoneking; Roland A.H. van Oorschot; Manfred Kayser; R. John Mitchell
Date Published
July 2012
Length
12 pages
Annotation
Human mitochondrial DNA (mtDNA) is a convenient marker for tracing matrilineal bio-geographic ancestry and is widely applied in forensic, genealogical and anthropological studies. This study developed a hierarchical system of 3 SNaPshot multiplexes for genotyping 26 SNPs defining all major mtDNA haplogroups for Oceania (including Australia, Near Oceania and Remote Oceania).
Abstract
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. With this system, it was possible to conclusively assign 74 percent 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 percent were conclusively assigned an Oceanian matrilineal origin. For the remaining 12.4 percent of the genotyped samples either a Eurasian origin was detected indicating likely European admixture (1.9 percent), the identified haplogroups are shared between Oceania and S/SE-Asia (5 percent), or the SNPs applied did not allow a geographic inference to be assigned (5.6 percent). Sub-regional assignment within Oceania was possible for 32.9 percent of the individuals genotyped: 49.5 percent of Australians were assigned an Australian origin and 13.7 percent 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 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. (Published Abstract)