Subclades of the Y-chromosome haplogroup R1b-M269 in Portuguese samples: F1343 as a common DF27 sublineage

The internal branches of R1b-M269 (R1b1a1b) have been poorly analyzed in the Portuguese population. The present study aims to improve the understanding of the phylogenetic structure of this main haplogroup within the country. We analyzed 94 individuals, primarily from the central region of Portugal, previously identified as having the derived allele for the R1b-M269 marker. The R1b-M269 subhaplogroups S116/P312 and U106 were found with frequencies of 88.3% and 5.32%, respectively. Regarding the sublineages of S116/P312, the subhaplogroup DF27 was the most common (60.64%) compared with the two additional subclades U152 and M529 found with frequencies of 6.38% and 15.96%, respectively. The dissection of the subhaplogroup DF27 for its most known sublineages revealed a high frequency of the F1343 subtype (18 in 94 M269 samples) representing a frequency of 19.15%. Among the other DF27 sublineages, only the Z196/Z195 derived allele was found with a frequency of 8.51%. In conclusion, we have identified several main branches of R1b-M269 in a population sample from Portugal. For the first time, we report F1343 as a common sublineage within DF27 among an Iberian population. This new finding enhances the understanding of the phylogenetic structure of haplogroup R1b-DF27, particularly within Iberian populations where this lineage is most prevalent.