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Y chromosome SNP analysis in a Portuguese population sample using a multiplex PCR and minisequencing strategy
Authors:M. Carvalho  M.J. Anjos  F. Balsa  C. Oliveira  J.J. Gamero  F. Corte-Real
Affiliation:a Forensic Genetic Service, Central Region Department, National Institute of Legal Medicine, Portugal
b Department of Legal Medicine, Faculty of Medicine, University of Cádiz, Spain
c IPATIMUP Institute of Pathology and Molecular Immunology of University of Porto, Portugal
d National Institute of Legal Medicine, Portugal
Abstract:The study of single nucleotide polymorphisms (SNPs) located on the Y chromosome specific region Y-SNPs (92R7, M70, M22, Tat, P25, SRY10831, M173, M213 and M9) was used to characterize a population sample from Central Portugal, in order to investigate the frequency distribution of the male lineages and to compare the observed results with those obtained in other Portuguese regions.The genotyping strategy was according to the described by Brion et al. [M. Brion, et al., Int. J. Legal Med. 119 (2004) 10-15].In this population sample from Central Portugal a typical Western European haplogroup composition was found. The majority of samples (almost 70%) were assigned inside haplogroup R. As for other Iberian populations, the most frequent haplogroup was R1b-P25 (52.2%), followed by F(xK)-M213 (15.2%), E-B-SRY10831.1, R1(xR1a,b)-M173 and R1a-SRY10831.2 (each of them with a 8.7% frequency), K2-M70 (4.3%) and L-M22 (2.2%). When comparing our sample with other samples from Portugal, no significant differences were found.
Keywords:Y Chromosome   SNP   Minisequency   Population study   Central Portugal
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