Testing direct maternal line (mtDNA)

Testing of mitochondrial DNA resulted in a large phylogenetic mtDNA tree with 5,400 haplogroups found in world population.[1] Each sample sent to a reference laboratory results in the definition of a haplogroup/subgroup and gives the donor information on placement in genetic evolution by maternal direct line, which goes thousands of years back to the history. The donor’s mtDNA mutations are compared to the standard sequence in order to identify changes in A, T, G, C at a certain position in the chain of mitochondrial DNA. Within services, provided by a laboratory, explanation of results have to be available, for example, graphics of journey by haplogroups out of Africa maps with location and basic information of matches and relevant historical frame[2]. The Genographic Project offers also a comparison to famous people and encourages the real-time citizen-science learning about our own deep ancestry.[3] The other service providers should be chosen not only by the lowest price but also by their performance, especially possibility to export the results for searching matches, like, which has been created by Family Tree DNA as a free public service so that people who have tested with different companies can compare their results.[4]

The most common haplogroup detected in the Slovenian population is haplogroup H (38.1%), which is dispersed in a high frequency, not only in Europe but also in North Africa and the Middle East, with modest frequencies occurring in India and Central Asia. Within haplogroup H seven sub-haplogroups in the Slovenian population were revealed, with H1 presenting the highest frequency (12.4%). Heterogenic group of haplotypes (Figure 4) points to complex historic demographic events shaping haplogroup H and its subhaplogroups in the contemporary Slovenian population. (Zupan et al., 2015; see the chart below)[5]

The frequency of mtDNA haplogroups per region by Andrej Zupan, Nina Hauptman & Damjan Glavač (2015): The maternal perspective for five Slovenian regions.

[1]  van Oven M, Kayser M. 2009. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. doi:10.1002/humu.20921 Hum Mutat 30(2):E386-E394.

[2] Family Tree DNA 

[3]National Geographic Partners, LLC

[4] MitoSearch

[5] Andrej Zupan, Nina Hauptman & Damjan Glavač (2015) The maternal perspective for five Slovenian regions: The importance of regional sampling, Annals of Human Biology, 43:1, 57-66, DOI: 10.3109/03014460.2015.1006678

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