2000a) Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation

summary The analysis of the hypervariable regions I and II of mitochondrial DNA in Portugal showed that this Iberian population presents a higher level of diversity than some neighbouring populations. The classification of the different sequences into haplogroups revealed the presence of all the most important European haplogroups, including those that expanded through Europe in the Palaeolithic, and those whose expansion has occurred during the Neolithic. Additionally a rather distinct African influence was detected in this Portuguese survey, as signalled by the distributions of haplogroups U6 and L, present at higher frequencies than those usually reported in Iberian populations. The geographical distributions of both haplogroups were quite different, with U6 being restricted to North Portugal whereas L was widespread all over the country. This seems to point to different population movements as the main contributors for the two haplogroup introductions. We hypothesise that the recent Black African slave trade could have been the mediator of most of the L sequence inputs, while the population movement associated with the Muslim rule of Iberia has predominantly introduced U6 lineages. introduction Since the description of the mitochondrial DNA sequence by Anderson et al. (1981), this peculiar genome, which is maternally inherited, non-recombining and fast-evolving, has been intensively investigated and applied to popu-lation studies. The initial screening based on restriction fragment length polymorphisms spread all over the molecule, was soon enlarged by direct sequencing of two hypervariable regions located in the control region (D-Loop): HVRI and HVRII