%0 Journal Article
%T Multiplex single-nucleotide polymorphism typing of the human Y chromosome using TaqMan probes
%A Bego£¿a Mart¨ªnez-Cruz
%A Janet Ziegle
%A Paula Sanz
%A Graciela Sotelo
%A Roger Anglada
%A St¨¦phanie Plaza
%A David Comas
%A the Genographic Consortium
%J Investigative Genetics
%D 2011
%I BioMed Central
%R 10.1186/2041-2223-2-13
%X We present data from 264 samples from several European areas and ethnic groups. The array developed in this study shows >99% accuracy of assignation to the Y human phylogeny (with an average call rate of genotypes >96%).We have created and evaluated a robust and accurate Y-chromosome multiplex which minimises the possible errors due to mixup when typing the same sample in several independent reactions.The development of high-throughput technologies to genotype hundreds of thousands of markers has yielded an increase in the understanding of the genetic diversity of our species [1]. This genomic knowledge has been applied to different fields, from biomedical and pharmaceutical research to population genetics and forensics [2-5]. Most of the genotyping technologies have been based on typing of single-nucleotide polymorphisms (SNPs) that commonly have only two alleles (ancestral or derived compared to nonhuman primates) and have usually arisen once. These high-throughput SNP genotyping analyses provide much information about the variation of our genome, but still little information has been derived from some specific genome regions of great interest. SNPs are also used for human identification purposes and to reconstruct human demographic history, although these fields require the typing of a few selected SNPs for targeted research rather than the use of high-throughput genotyping methods (that is, allele-specific probes or single base primer extensions).The human Y chromosome has been extensively analysed in forensic and evolutionary studies because of its unique properties. Despite being a complex chromosome with highly repetitive sequences [6], its exclusively paternal inheritance due to the lack of recombination over most of the chromosome has allowed researchers to trace paternal lineages and reconstruct the male demographic history of populations [7]. The human Y chromosome contains hundreds of well-characterised SNPs (around 600) whose evolutionary relationships
%U http://www.investigativegenetics.com/content/2/1/13