View Full Version : New studies about Portuguese mtDna

05-09-12, 19:06
5th EMPOP Meeting
8th Y-Chromosomal User Workshop
Innsbruck, Sep 06-08 2012


"Refined characterization of Portuguese mtDNA variability for forensic purposes"

Rocha A1, Goios A1, Amorim A1,2, Gusmao L1, Alves C1,*
1IPATIMUP, Institute of Pathology and Molecular Immunology of the University of Porto, Porto, Portugal
2Faculty of Sciences, University of Porto, Porto, Portugal

"The analysis of mtDNA polymorphisms has become a useful tool in fields such as forensic science,
human population genetics and molecular evolution studies. The amount of data accumulated from
different populations all over the world is massive. Still, the Portuguese population is poorly
characterized for the mtDNA complete control region and lacks a comprehensive database of good
quality sequences.
For this reason we have sequenced the mtDNA complete control region of 298 unrelated
individuals equally distributed through North, Center and South of Portugal and undertaken
haplogroup classification. Specific coding region single nucleotide polymorphisms (SNPs) were
further genotyped by single base extension multiplex reactions in individuals classified within
haplogroup H, which encompasses over 40% of the total mtDNA variation in Western Europe.
A total of 106 studied individuals (35.6%) were classified within haplogroup H. The southern
region showed a slightly lower percentage of individuals classified in haplogroup H (32%) in
comparison with the other two regions (37%). The remaining sequences were classified into the
following major haplogroups: R* (incl. B, J, T - 20.1%), U (incl. K - 19.5%), N* (incl. I, W, X –
10.1%), R0 (except H – 7.0%), L (except L3 – 5.4%) and M (incl. D - 0,7%) (Nomenclature
according to PhyloTree.org - mtDNA tree Build 14, 5 Apr 2012).
With this study, we provide a better characterization of the mtDNA variability in the Portuguese
population by collaborating and contributing to the enrichment of the EMPOP database
(www.empop.org (http://www.empop.org)). Finally, by comparing the three regions, North, Center and South, we will
understand whether the Portuguese sample should be considered as a whole, when applied to
routine forensic genetic casework."

Interesting to note that they tested 298 unrelated individuals equally distributed through North, Center and South of Portugal and that they found L haplogroups at 5.4%. (L3, my haplogroup, is not included so L total percentage is higher)

09-04-18, 13:48
35%-65% statement:

Cerezo M, Achilli A, Olivieri A, Perego UA, Gómez-Carballa A, Brisighelli F, et al. (2012) Reconstructing ancient mitochondrial DNA links between Africa and Europe. Genome Res 22: 821–826. pmid:22454235

23-10-18, 09:32
I think that EXPLORING THE PHYLOGENIES is a very useful task
I am interested in this topic
Thanx for your post