Abstract
In recent years a large amount of mitochondrial population data for forensic purposes
has been produced. Current efforts are focused at increasing the number of studied
populations while generating updated genetic information of forensic quality. However,
complete mitochondrial control region sequences are still scarce for most populations
and even more so for complete mitochondrial genomes. In the case of Portugal, previous
population genetics studies have already revealed the general portrait of HVS-I and
HVS-II mitochondrial diversity, becoming now important to update and expand the mitochondrial
region analysed. Accordingly, a total of 292 complete control region sequences from
continental Portugal were obtained, under a stringent experimental design to ensure
the quality of data through double sequencing of each target region. Furthermore,
H-specific coding region SNPs were examined to detail haplogroup classification and
complete mitogenomes were obtained for all sequences belonging to haplogroups U4 and
U5. In general, a typical Western European haplogroup composition was found in mainland
Portugal, associated to high level of mitochondrial genetic diversity. Within the
country, no signs of substructure were detected. The typing of extra coding region
SNPs has provided the refinement or confirmation of the previous classification obtained
with EMMA tool in 96% of the cases. Finally, it was also possible to enlarge haplogroup
U phylogeny with 28 new U4 and U5 mitogenomes.
Keywords
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Article info
Publication history
Published online: October 14, 2014
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© 2014 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
