title: Improving the analysis of Y-SNP haplogroups by a single highly informative 16 SNP multiplex PCR-minisequencing assay.
abstract: The SNP haplogroups of the Y-chromosome are nonrandomly distributed among human populations. They are used for tracing the phylogeographical history of paternal lineages of male individuals and can be a useful tool for approaching the patrilineal bio-geographic ancestry of unknown forensic evidences. With the aim of facilitating the inference of the principal informative worldwide Y-SNP haplogroups, we have selected the minimum possible number of key Y-SNPs to be amplified in a sensitive single multiplex PCR and detected by minisequencing. This assay, that includes 16 Y-SNPs, was tested for male human specificity, sensitivity, and reproducibility. Its effectiveness was assessed in a set of degraded DNA samples and in a panel of male individuals from different worldwide populations. All these tests demonstrated the convenience of this assay for assigning the major Y haplogroups to forensic evidences by one single PCR-minisequencing reaction.
authors.affiliation: BIOMICs Research Group, Lascaray Research Center, University of the Basque Country UPV/EHU, Vitoria-Gasteiz, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Valverde
authors.forename: Stephan
authors.initials: S
authors.lastname: Köhnemann
authors.forename: Sergio
authors.initials: S
authors.lastname: Cardoso
authors.forename: Heidi
authors.initials: H
authors.lastname: Pfeiffer
authors.forename: Marian M
authors.initials: MM
authors.lastname: de Pancorbo
mesh_terms: D041322:Chromosomes, Human, Y; D053803:Forensic Genetics / Q000379:methods; D006239:Haplotypes; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA / Q000379:methods*