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Electrophoresis (early view)
Introduction of an single nucleodite polymorphism-based Major Y-chromosome haplogroup typing kit suitable for predicting the geographical origin of male lineages
María Brión et al.
Abstract
The European Consortium High-throughput analysis of single nucleotide polymorphisms for the forensic identification of persons - SNPforID, has performed a selection of candidate Y-chromosome single nucleotide polymorphisms (SNPs) for making inferences on the geographic origin of an unknown sample. From more than 200 SNPs compiled in the phylogenetic tree published by the Y-Chromosome Consortium, and looking at the population studies previously published, a package of 29 SNPs has been selected for the identification of major population haplogroups. A Major Y-chromosome haplogroup typing kit has been developed, which allows the multiplex amplification of all 29 SNPs in a single reaction. Allele genotyping was performed with a single base extension reaction (minisequencing) detected by CE. The validation of the multiplex was performed in a total of 1126 unrelated males distributed among 12 worldwide populations. The approach takes advantage of the specific geographic distribution of the Y-chromosome haplogroups and demonstrates the utility of binary polymorphisms to infer the origin of a male lineage.
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