Duplications of the Y-chromosome specific loci P25 and 92R7 and forensic implications

Research output: Contribution to journalJournal articleResearchpeer-review

  • Juan Jose Sanchez Sanchez
  • Maria Brión
  • Walther Parson
  • Alejandro J Blanco-Verea
  • Børsting, Claus
  • Maviki Lareu
  • Harald Niederstätter
  • Herbert Oberacher
  • Morling, Niels
  • Angel Carracedo
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.
Original languageEnglish
JournalForensic Science International
Volume140
Issue number2-3
Pages (from-to)241-50
Number of pages9
ISSN0379-0738
DOIs
Publication statusPublished - 2004

Bibliographical note

Keywords: Chromosomes, Human, Y; DNA Primers; Europe; Forensic Medicine; Genetics, Population; Haplotypes; Humans; Male; Polymerase Chain Reaction; Polymorphism, Single Nucleotide

ID: 14145304