TY - JOUR
T1 - Duplications of the Y-chromosome specific loci P25 and 92R7 and forensic implications
AU - Sanchez Sanchez, Juan Jose
AU - Brión, Maria
AU - Parson, Walther
AU - Blanco-Verea, Alejandro J
AU - Børsting, Claus
AU - Lareu, Maviki
AU - Niederstätter, Harald
AU - Oberacher, Herbert
AU - Morling, Niels
AU - Carracedo, Angel
N1 - Keywords: Chromosomes, Human, Y; DNA Primers; Europe; Forensic Medicine; Genetics, Population; Haplotypes; Humans; Male; Polymerase Chain Reaction; Polymorphism, Single Nucleotide
PY - 2004
Y1 - 2004
N2 - 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.
AB - 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.
U2 - 10.1016/j.forsciint.2003.11.035
DO - 10.1016/j.forsciint.2003.11.035
M3 - Journal article
C2 - 15036445
SN - 0379-0738
VL - 140
SP - 241
EP - 250
JO - Forensic Science International
JF - Forensic Science International
IS - 2-3
ER -