title: Introduction of an single nucleodite polymorphism-based "Major Y-chromosome haplogroup typing kit" suitable for predicting the geographical origin of male lineages.
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.
authors.affiliation: Institute of Legal Medicine, National Genotyping Center (CEGEN), University of Santiago de Compostela, Spain. brioniml@usc.es
authors.forename: María
authors.initials: M
authors.lastname: Brión
authors.forename: Juan J
authors.initials: JJ
authors.lastname: Sanchez
authors.forename: Kinga
authors.initials: K
authors.lastname: Balogh
authors.forename: Catherine
authors.initials: C
authors.lastname: Thacker
authors.forename: Alejandro
authors.initials: A
authors.lastname: Blanco-Verea
authors.forename: Claus
authors.initials: C
authors.lastname: Børsting
authors.forename: Beate
authors.initials: B
authors.lastname: Stradmann-Bellinghausen
authors.forename: Magdalena
authors.initials: M
authors.lastname: Bogus
authors.forename: Denise
authors.initials: D
authors.lastname: Syndercombe-Court
authors.forename: Peter M
authors.initials: PM
authors.lastname: Schneider
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
authors.forename: Niels
authors.initials: N
authors.lastname: Morling
mesh_terms: D000349:Africa; D001208:Asia; D041322:Chromosomes, Human, Y / Q000235:genetics*; D017931:DNA Primers; D005060:Europe; D005260:Female; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008297:Male; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D013020:South America
chemical_list: D017931:DNA Primers