title: An efficient multiplex genotyping approach for detecting the major worldwide human Y-chromosome haplogroups.
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.
authors.affiliation: Department of Forensic Molecular Biology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. m.vanoven@erasmusmc.nl
authors.forename: Mannis
authors.initials: M
authors.lastname: van Oven
authors.forename: Arwin
authors.initials: A
authors.lastname: Ralf
authors.forename: Manfred
authors.initials: M
authors.lastname: Kayser
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics*; D005828:Genetics, Population; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide