Introduction of an single nucleodite polymorphism-based "Major Y-chromosome haplogroup typing kit" suitable for predicting the geographical origin of male lineages

Research output: Contribution to journalJournal articleResearchpeer-review

  • María Brión
  • Juan J Sanchez
  • Kinga Balogh
  • Catherine Thacker
  • Alejandro Blanco-Verea
  • Børsting, Claus
  • Beate Stradmann-Bellinghausen
  • Magdalena Bogus
  • Denise Syndercombe-Court
  • Peter M Schneider
  • Angel Carracedo
  • Morling, Niels
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.
Original languageEnglish
Issue number23
Pages (from-to)4411-20
Number of pages9
Publication statusPublished - 2005

Bibliographical note

Keywords: Africa; Asia; Chromosomes, Human, Y; DNA Primers; Europe; Female; Genetics, Population; Haplotypes; Humans; Male; Phylogeny; Polymorphism, Single Nucleotide; South America

ID: 14145089