Abstract The Y chromosome is paternally inherited and therefore serves as an evolutionary marker of patrilineal descent. Worldwide DNA variation within the non-recombining portion of the Y chromosome can be represented as a monophyletic phylogenetic tree in which the branches (haplogroups) are defined by at least one SNP. Previous human population genetics research has produced a wealth of knowledge about the worldwide distribution of Y-SNP haplogroups. Here, we apply previous and very recent knowledge on the Y-SNP phylogeny and Y-haplogroup distribution by introducing two multiplex genotyping assays that allow for the hierarchical detection of 28 Y-SNPs defining the major worldwide Y haplogroups. PCR amplicons were kept small to make the method sensitive and thereby applicable to DNA of limited amount and/or quality such as in forensic settings. These Y-SNP assays thus form a valuable tool for researchers in the fields of forensic genetics and genetic anthropology to infer a man's patrilineal bio-geographic ancestry from DNA.

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Persistent URL dx.doi.org/10.1007/s00414-011-0605-2, hdl.handle.net/1765/24039
Journal International Journal of Legal Medicine (Print)
van Oven, M, Kayser, M.H, & Ralf, A. (2011). An efficient multiplex genotyping approach for detecting the major worldwide human Y-chromosome haplogroups. International Journal of Legal Medicine (Print), 125(6), 879–885. doi:10.1007/s00414-011-0605-2