Refining the analysis of Y-chromosomal diversity in Alentejo (Portugal)

Sickle cell anemia (HBB*S) and glucose-6-phosphatedehydrogenase (G6PD) deficiency, present a clinal distribution in Portugal, being more frequent in the South and showing foci of high prevalence in some places from Alentejo such as Coruche and Pias. Since the reconstruction of the evolutionary history of G6PD deficiency alleles and HBB*S lead to conclude that Sub-Saharan Africa was the place of origin of many of them, it is likely that at least some were introduced in Alentejo by Sub-Saharan individuals whose presence in the region is known to have had considerable demographic impact. To evaluate the male mediated Sub-Saharan influence in present-day populations from Coruche and Pias, we have performed a high resolution analysis of 16 Y-STRs and 23 Y-SNPs in 91 males from Coruche and 54 from Pias. The results showed the absence of haplogroups of Sub-Saharan origin and a Y-chromosome composition basically not differing from those previously reported for other Portuguese mainland regions. Therefore, from the forensic point of view the studied populations can be dealt without special concerns.