title: Duplications of the Y-chromosome specific loci P25 and 92R7 and forensic implications.
abstract: In the present study, we demonstrate that two commonly used Y-chromosome single nucleotide polymorphisms (SNPs), P25 and 92R7, are paralogous sequence variants (PSVs) originating from segmental duplications and that at least one of the sequence variants in each group of loci is polymorphic. Several methodologies were used in order to detect the SNP alleles and the PSVs of the loci. All results obtained with the various typing techniques supported the conclusion. The allele distributions of the binary markers were analysed in more than 600 males with seven different haplogroups. For P25, the ancestral allele C was found in several samples from different haplogroups. The derived allele A was always present with an additional C variant. Haplogroup P was defined by the derived allele A at the 92R7 locus. However, the ancestral allele G was always associated with an A variant due to the duplication.
authors.affiliation: Department of Forensic Genetics, Institute of Forensic Medicine, University of Copenhagen, 11 Frederik V's Vej, DK-2100 Copenhagen, Denmark. juan.sanchez@forensic.ku.dk
authors.forename: Juan J
authors.initials: JJ
authors.lastname: Sanchez
authors.forename: Maria
authors.initials: M
authors.lastname: Brión
authors.forename: Walther
authors.initials: W
authors.lastname: Parson
authors.forename: Alejandro J
authors.initials: AJ
authors.lastname: Blanco-Verea
authors.forename: Claus
authors.initials: C
authors.lastname: Børsting
authors.forename: Maviki
authors.initials: M
authors.lastname: Lareu
authors.forename: Harald
authors.initials: H
authors.lastname: Niederstätter
authors.forename: Herbert
authors.initials: H
authors.lastname: Oberacher
authors.forename: Niels
authors.initials: N
authors.lastname: Morling
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
mesh_terms: D041322:Chromosomes, Human, Y / Q000737:chemistry*; D017931:DNA Primers; D005060:Europe; D005554:Forensic Medicine / Q000379:methods*; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
chemical_list: D017931:DNA Primers