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therrien.joel
05-14-2018, 01:28 AM
Having had the chance to look at both my own and my mother's fully sequenced mtDNA results, it is very clear that the best fit for the mutations is the L3e haplogroup. I have seen varying info on where L3 can be found. The default answer of course is that L3 is of sub-Saharan origin, but given that pretty much all other haplogroups spring from this one, I'd expect it is spread out to a degree. I've tried doing a search to find a map that shows it's distribution into areas outside of Africa and have found some. Wikipedia shows a map with what appears to be the highest concentration in Turkey and unfortunately cuts off at Iran. Does anyone know of a map or any study that shows exactly how far east L3 spread?

A second question is whether anyone can explain the meaning of the few "extra" mutations that are present along with the ones that I have that map into the specific L3e subgroup that matches me best.

Nive1526
05-15-2018, 07:37 PM
MtDNA L3 is very rare or absent outside of Africa and I don't think it reaches a frequency high enough to base maps on anywhere else than the Wikipedia map shows. It did spread further into Iran, by the Islamic slave trade.
Here is a map from the FTDNA project member places of origin
https://www.familytreedna.com/public/L3?iframe=mtmap

Uneducated guess on the extra mutations:

1. Your extra mutations are errors caused by lower reading depth of geneplazas next generation seqencing.
2. You're in a different subclade, an unknown paragroup and ...b1a1 is just the closest fitting known one. This could be due to your great geographic distance from the L3 hotspots may be also one in time.
3. You're in the right subclade, but have some extra mutations different from the modal.

therrien.joel
05-15-2018, 07:58 PM
MtDNA L3 is very rare or absent outside of Africa and I don't think it reaches a frequency high enough to base maps on anywhere else than the Wikipedia map shows. It did spread further into Iran, by the Islamic slave trade.
Here is a map from the FTDNA project member places of origin
https://www.familytreedna.com/public/L3?iframe=mtmap

Uneducated guess on the extra mutations:

1. Your extra mutations are errors caused by lower reading depth of geneplazas next generation seqencing.
2. You're in a different subclade, an unknown paragroup and ...b1a1 is just the closest fitting known one. This could be due to your great geographic distance from the L3 hotspots may be also one in time.
3. You're in the right subclade, but have some extra mutations different from the modal.

I wish the FTDNA maps were of much use, but they almost never seem to have info on the origins for the people that are listed. Combined with the overall stability of mtDNA. But that comment right there may well make it a moot point to ask about maps period.

As to the guesses:

1. Very well could be. I know exactly how many reads were done for each position, so if I knew how to locate the mutations, then I could check that out. I had assumed the number meant what position along the DNA strand it was located at (e.g. 5580C would mean the 5,580'th base) but I know better than to assume genetic labelling is that straightforward!

2. Hmmm.... I'd have to figure out what is a good way to attempt that. Maybe if I can remove the less certain reads and see what happens.

3. I guess this would be the default position to take barring the other two ideas panning out.

therrien.joel
05-16-2018, 03:10 AM
So even pruning out the variants that only had a few reads, it still comes back as being L3e. Now I have looked at this site called mtdnaatlas, that has a large collection of haplogroups and locations where they were found (https://docs.google.com/document/d/1HRfrKlDa5Z0Gd1SdeC-y4qgZa7lOrFqBcuxptgZ8HSA/edit). L3e shows up mostly in the Middle East. Given that my matrilineal line is very likely Romany, they would have travelled through that region around 500-700-ish years ago, so it's not ridiculous.

therrien.joel
05-17-2018, 12:38 AM
Alllrighty then...

Forgot there could be an option 4: That I am an idiot... Turns out I was grabbing the reference sequence, not my own! :behindsofa:

My mtDNA haplogroup is right back where it was before. H2a2a1

romelson
06-11-2018, 08:44 AM
In our regional project in northern Sweden we have a mysterious Full mitochondrial sequence result from one of members, with north-swedish maternal line.
L3e4a.
No matches at coding region. Only one match at HVR1+HVR2, and that appears to be french test person.
From all I've read, this should be an african haplogroup, right?