mt-DNA L2a1a

[jeanL]

This is something I posted in another forum, namely eng.molgen.org, but haven't gotten many responses.

As far as I know my maternal lineage comes from Southern Galicia, Spain, so L2a1a was quite a surprise for me.


Here is the analysis done by http://dna.jameslick.com/mthap/

Markers found (shown as differences to rCRS):


CR: 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 9449T 9540C 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15734A 15784C
HVR1: 16223T 16256T 16278T 16311C 16390A (16519C)
HVR2: 73G 263G

Best mtDNA Haplogroup Matches:

1) L2a1a

Defining Markers for haplogroup L2a1a:
HVR2: 73G 146C 152C 195C 263G
CR: 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 9540C 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15784C
HVR1: 16223T 16278T 16294T 16309G 16390A

Marker path from rCRS to haplogroup L2a1a (plus extra markers):
H2a2a1(rCRS) ⇨ 263G ⇨ H2a2a ⇨ 8860G 15326G ⇨ H2a2 ⇨ 750G ⇨ H2a ⇨ 4769G ⇨ H2 ⇨ 1438G ⇨ H ⇨ 2706G 7028T ⇨ HV ⇨ 14766T ⇨ R0 ⇨ 73G 11719A ⇨ R ⇨ 12705T 16223T ⇨ N ⇨ 8701G 9540C 10398G 10873C 15301A ⇨ L3 ⇨ 769A 1018A 16311C ⇨ L3'4 ⇨ 182T 3594T 7256T 13650T 16278T ⇨ L3'4'6 ⇨ 4104G 7521A ⇨ L2'3'4'6 ⇨ 146C 150T 152C 2416C 8206A 9221G 10115C 13590A 16311T 16390A ⇨ L2 ⇨ 195C 11944C ⇨ L2a'b'c'd ⇨ 150C 7175C ⇨ L2a ⇨ 2789T 7274T 7771G 11914A 13803G 14566G 16294T ⇨ L2a1'2'3'4 ⇨ 182C 12693G 15784C 16309G ⇨ L2a1 ⇨ 3918A 5285G 15244G 15629C ⇨ L2a1a ⇨ 9449T 15734A 16256T 16311C (16519C)

Imperfect Match. Your results contained differences with this haplogroup:
Matches(47): 73G 150C 263G 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 9540C 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15784C 16223T 16278T 16390A
Mismatches(1): 16311C
Extras(4): 9449T 15734A 16256T 16311C (16519C)
Untested(6): 146 152 182 195 16294 16309


2) L2a1a3

Defining Markers for haplogroup L2a1a3:
HVR2: 73G 143A 146C 152C 195C 263G
CR: 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 9540C 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15784C
HVR1: (16093C) 16223T 16278T 16294T 16309G 16390A

Marker path from rCRS to haplogroup L2a1a3 (plus extra markers):
H2a2a1(rCRS) ⇨ 263G ⇨ H2a2a ⇨ 8860G 15326G ⇨ H2a2 ⇨ 750G ⇨ H2a ⇨ 4769G ⇨ H2 ⇨ 1438G ⇨ H ⇨ 2706G 7028T ⇨ HV ⇨ 14766T ⇨ R0 ⇨ 73G 11719A ⇨ R ⇨ 12705T 16223T ⇨ N ⇨ 8701G 9540C 10398G 10873C 15301A ⇨ L3 ⇨ 769A 1018A 16311C ⇨ L3'4 ⇨ 182T 3594T 7256T 13650T 16278T ⇨ L3'4'6 ⇨ 4104G 7521A ⇨ L2'3'4'6 ⇨ 146C 150T 152C 2416C 8206A 9221G 10115C 13590A 16311T 16390A ⇨ L2 ⇨ 195C 11944C ⇨ L2a'b'c'd ⇨ 150C 7175C ⇨ L2a ⇨ 2789T 7274T 7771G 11914A 13803G 14566G 16294T ⇨ L2a1'2'3'4 ⇨ 182C 12693G 15784C 16309G ⇨ L2a1 ⇨ 3918A 5285G 15244G 15629C ⇨ L2a1a ⇨ 143A (16093C) ⇨ L2a1a3 ⇨ 9449T 15734A 16256T 16311C (16519C)

Imperfect Match. Your results contained differences with this haplogroup:
Matches(47): 73G 150C 263G 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 9540C 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15784C 16223T 16278T 16390A
Mismatches(1): 16311C
Extras(4): 9449T 15734A 16256T 16311C (16519C)
No-Calls(1): 143A (16093C)
Untested(6): 146 152 182 195 16294 16309


2) L2a1a3a

Defining Markers for haplogroup L2a1a3a:
HVR2: 73G 143A 146C 152C 195C 263G
CR: 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9165C 9221G 9540C 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15784C
HVR1: (16093C) 16223T 16278T 16294T 16309G 16390A

Marker path from rCRS to haplogroup L2a1a3a (plus extra markers):
H2a2a1(rCRS) ⇨ 263G ⇨ H2a2a ⇨ 8860G 15326G ⇨ H2a2 ⇨ 750G ⇨ H2a ⇨ 4769G ⇨ H2 ⇨ 1438G ⇨ H ⇨ 2706G 7028T ⇨ HV ⇨ 14766T ⇨ R0 ⇨ 73G 11719A ⇨ R ⇨ 12705T 16223T ⇨ N ⇨ 8701G 9540C 10398G 10873C 15301A ⇨ L3 ⇨ 769A 1018A 16311C ⇨ L3'4 ⇨ 182T 3594T 7256T 13650T 16278T ⇨ L3'4'6 ⇨ 4104G 7521A ⇨ L2'3'4'6 ⇨ 146C 150T 152C 2416C 8206A 9221G 10115C 13590A 16311T 16390A ⇨ L2 ⇨ 195C 11944C ⇨ L2a'b'c'd ⇨ 150C 7175C ⇨ L2a ⇨ 2789T 7274T 7771G 11914A 13803G 14566G 16294T ⇨ L2a1'2'3'4 ⇨ 182C 12693G 15784C 16309G ⇨ L2a1 ⇨ 3918A 5285G 15244G 15629C ⇨ L2a1a ⇨ 143A (16093C) ⇨ L2a1a3 ⇨ 9165C ⇨ L2a1a3a ⇨ 9449T 15734A 16256T 16311C (16519C)

Imperfect Match. Your results contained differences with this haplogroup:
Matches(47): 73G 150C 263G 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 9540C 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15784C 16223T 16278T 16390A
Mismatches(1): 16311C
Extras(4): 9449T 15734A 16256T 16311C (16519C)
No-Calls(1): 143A (16093C)
Untested(7): 146 152 182 195 9165 16294 16309


3) L2a1a2

Defining Markers for haplogroup L2a1a2:
HVR2: 73G 146C 152C 195C 263G
CR: 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 9540C 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15784C
HVR1: 16223T 16278T 16286T 16294T 16309G 16390A

Marker path from rCRS to haplogroup L2a1a2 (plus extra markers):
H2a2a1(rCRS) ⇨ 263G ⇨ H2a2a ⇨ 8860G 15326G ⇨ H2a2 ⇨ 750G ⇨ H2a ⇨ 4769G ⇨ H2 ⇨ 1438G ⇨ H ⇨ 2706G 7028T ⇨ HV ⇨ 14766T ⇨ R0 ⇨ 73G 11719A ⇨ R ⇨ 12705T 16223T ⇨ N ⇨ 8701G 9540C 10398G 10873C 15301A ⇨ L3 ⇨ 769A 1018A 16311C ⇨ L3'4 ⇨ 182T 3594T 7256T 13650T 16278T ⇨ L3'4'6 ⇨ 4104G 7521A ⇨ L2'3'4'6 ⇨ 146C 150T 152C 2416C 8206A 9221G 10115C 13590A 16311T 16390A ⇨ L2 ⇨ 195C 11944C ⇨ L2a'b'c'd ⇨ 150C 7175C ⇨ L2a ⇨ 2789T 7274T 7771G 11914A 13803G 14566G 16294T ⇨ L2a1'2'3'4 ⇨ 182C 12693G 15784C 16309G ⇨ L2a1 ⇨ 3918A 5285G 15244G 15629C ⇨ L2a1a ⇨ 16286T ⇨ L2a1a2 ⇨ 9449T 15734A 16256T 16311C (16519C)

Imperfect Match. Your results contained differences with this haplogroup:
Matches(47): 73G 150C 263G 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 9540C 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15784C 16223T 16278T 16390A
Mismatches(2): 16286C 16311C
Extras(4): 9449T 15734A 16256T 16311C (16519C)
Untested(6): 146 152 182 195 16294 16309

[jeanL]

I was reviewing a couple of genetic studies and noticed that L2a1, which could very well be L2a1a or anything under L2a1 was found in 1 sample out of 24 in Catalonia per the study by Garcia.et.al.2011. It was also found in 1 out of 25 people from Burgos as per the study by Martinez-Cruz.et.al.2012, what is interesting is that it is found amongst populations in Spain that aren't known for having L lineages. It has HVR-I matches with the sample from Catalonia, the sample from Burgos doesn't show the HVR-I, but the two Neolithic circa 6800 BC-6000 BC samples from Syria do show matches as well. Interestingly enough the two L2 lineages found in Tres Montes, Navarra show HVR-I 16261T, 16278T 16294T, 16309G these two lineages where dated two 2130 BC.

So we have:

Catalonia Sample(n=1):
HVR-I: 129 223 278 294 309 390
HVR-II: n/a

Syrian Samples (n=2) 6800 BC -6000 BC

HVR-I: 16223T, 16261T, 16278T, 16294T, 16309G
HVR-II: n/a

Tres Montes, Navarra samples (n=2) 2130 BC

HVR-I: 16261T, 16278T 16294T, 16309G
HVR-II: n/a

My mother's 23andme data from raw data browsing:

16129: No call
16223: C=>T transition
16261: C
16278: C=>T transition
16294: Not genotyped
16309: Not genotyped
16390: G=>A transition.

So it seems that my mt-DNA is not similar to those found in Neolithic Syria or Tres Montes, Navarra as they differ in the mutation in 16261, since my moms is 16261C, and the other two are 16261T. Now the Catalonian sample doesn't appear to have a mutation at position 16261, since the allele C is that of rCRS, so the question is, is it African(As in of recent/<2000 ybp arrival to Europe) then?

[Rathna]

I answered at last: "It is African, but probably came back to Europe with the Europeans who migrated to Africa from Iberia and after came back with some African lineages. Perhaps more than 10,000 years ago. Don't ask me now the paper, but I read it and remember it very well.
Perhaps those Europeans carried to Africa many European lineages, like mt H etc and perhaps R1b1 (V88+?)".
Of course i didn't study your specific case, but I'll do. About the Jewish link someone suggested, I wouldn't want that also in this case it has been the other way around: from Iberia to Sephardim.

[Jean M]

@ Jean L

Southern Galicia doesn't seem the most likely place for African input via the Moors. I'd go for Neolithic at a guess. But maybe someone knows more than me about L2a1a.

[jeanL]

My mom's 23andme does show a small amount of SSA 2.2%, but that's likely coming from my grandfather who had Colonial Cuban Ancestry, as she also shows some 1.4% Native American.

[Rathna]

The haplogroup is clearly L2a1a* (L2a1a G3918A A5285G A15244G T15629C ). All what seems to lack as to James Lick is due clearly either to back mutations or to heteroplasmies. This seems to strengthen me in my first opinion, that this haplotype came to Europe with the European migrants to Africa more than 10,000 years ago in their come back to Europe. Someone seemed having enjoyed some African girl.

[jeanL]

The haplogroup is clearly L2a1a* (L2a1a G3918A A5285G A15244G T15629C ). All what seems to lack as to James Lick is due clearly either to back mutations or to heteroplasmies. This seems to strengthen me in my first opinion, that this haplotype came to Europe with the European migrants to Africa more than 10,000 years ago in their come back to Europe. Someone seemed having enjoyed some African girl.

Yeah I guess some of my ancestors enjoyed themselves some color. LOL

[Rathna]

I'd be interested also to your Y: R-L11*. Perhaps you know that in my theory of the Italian Refugium (not forgetting the Iberian one), I have all the subclades of R1b1* till R-U152, but the only subclade very scarce in Italy is just R-L11. Only Ambrosia in the "ht 35 FTDNA Project" and a few others found by me in the Italian Migration. This subclade is well represented in the Rhaetian Region, but it is more diffused in the Baltic and in the Isles. A hole in my theory?
As for R-U106 I have hypothesized that they came out from Italy with the German group separated from the Italic-Celtic, and the same may be happened for R-L11.
Now an Englishman, after a profound paper trail of his family till the Bellardi merchants from Lucca, with my assistance (and he has been kind to thank me: see Worldfamilies), has linked his R-L11 with the Longobards (Longbeards), and a huge presence of this haplogroup in the Germanic world is likely.
Of course I am interested to search any ancient haplotype which could demonstrate its ancient presence in South Europe. Where does it come from your Basque R-L11? And which haplotype?

[jeanL]

I'd be interested also to your Y: R-L11*. Perhaps you know that in my theory of the Italian Refugium (not forgetting the Iberian one), I have all the subclades of R1b1* till R-U152, but the only subclade very scarce in Italy is just R-L11. Only Ambrosia in the "ht 35 FTDNA Project" and a few others found by me in the Italian Migration. This subclade is well represented in the Rhaetian Region, but it is more diffused in the Baltic and in the Isles. A hole in my theory?
As for R-U106 I have hypothesized that they came out from Italy with the German group separated from the Italic-Celtic, and the same may be happened for R-L11.
Now an Englishman, after a profound paper trail of his family till the Bellardi merchants from Lucca, with my assistance (and he has been kind to thank me: see Worldfamilies), has linked his R-L11 with the Longobards (Longbeards), and a huge presence of this haplogroup in the Germanic world is likely.
Of course I am interested to search any ancient haplotype which could demonstrate its ancient presence in South Europe. Where does it come from your Basque R-L11? And which haplotype?

Well I tested it with 23andme which doesn't test haplotypes, in any case what I could say is that since 23andme doesn't test for P312 on v3, nor does it test for DF27, or Z196, so mine could be any of those. What it is sure is that it is L11, but it is not U106, L21, U152, M153, M167 or M65, which I actually looked them up, and it is negative for those, but it could still be anything from true L11*, to P312*, to DF27+, etc/.

My paternal lineage comes from Guipuzcoa and then went to Vizcaya, and I traced it to circa 1650s.

[Rathna]

Well I tested it with 23andme which doesn't test haplotypes, in any case what I could say is that since 23andme doesn't test for P312 on v3, nor does it test for DF27, or Z196, so mine could be any of those. What it is sure is that it is L11, but it is not U106, L21, U152, M153, M167 or M65, which I actually looked them up, and it is negative for those, but it could still be anything from true L11*, to P312*, to DF27+, etc/.

My paternal lineage comes from Guipuzcoa and then went to Vizcaya, and I traced it to circa 1650s.

Not that R-L11* isn't present in Iberia! Even though it seems that there aren't any Iberians amongst the R-L11 of the "ht 35 FTDNA Project", 2 out of the 13 R-L11* tested with Geno 2.0 are Iberians: N114745 Làzaro and N112890 Joao Pereira. But of course it is more likely that you are R-P312* or R-DF27+.
But does also your mt come from 23andMe? Of course it isn't enough for understanding something of a haplogroup. Only K1a1b1a (the Jewish one) is pretty completely tested by 23andMe, so I said that the chip was designed for this, and I should be glad, being K1a1b1e, but I did an FGS at FTDNA for being sure at 100%.
Unfortunately to answer these questions does cost, and we haven't at our disposal thousands of clones. But it seems that we haven't done a little!

[jeanL]

I ran my mother's mt-DNA through the James Lick analysis, and it seems she got a better match than from last time.

Markers found (shown as differences to rCRS):

HVR2: 73G 263G
CR: 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 9449T 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15734A 15784C
HVR1: 16223T 16256T 16278T 16311C 16390A (16519C)

IMPORTANT NOTE: The above marker list is almost certainly incomplete due to limitations of genotyping technology and is not comparable to mtDNA sequencing results. It should not be used with services or tools that expect sequencing results, such as mitosearch.


Best mtDNA Haplogroup Matches:

1) L2a1a3c

Defining Markers for haplogroup L2a1a3c:

HVR2:73G 143A 146C 152C 195C 263G
CR:750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 9449T 9540C 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15784C
HVR1: (16093C) 16223T 16256T 16278T 16294T 16309G 16390A

Marker path from rCRS to haplogroup L2a1a3c (plus extra markers):
H2a2a1(rCRS) ⇨ 263G ⇨ H2a2a ⇨ 8860G 15326G ⇨ H2a2 ⇨ 750G ⇨ H2a ⇨ 4769G ⇨ H2 ⇨ 1438G ⇨ H ⇨ 2706G 7028T ⇨ HV ⇨ 14766T ⇨ R0 ⇨ 73G 11719A ⇨ R ⇨ 12705T 16223T ⇨ N ⇨ 8701G 9540C 10398G 10873C 15301A ⇨ L3 ⇨ 769A 1018A 16311C ⇨ L3'4 ⇨ 182T 3594T 7256T 13650T 16278T ⇨ L3'4'6 ⇨ 4104G 7521A ⇨ L2'3'4'6 ⇨ 146C 150T 152C 2416C 8206A 9221G 10115C 13590A 16311T 16390A ⇨ L2 ⇨ 195C 11944C ⇨ L2a'b'c'd ⇨ 150C 7175C ⇨ L2a ⇨ 2789T 7274T 7771G 11914A 13803G 14566G 16294T ⇨ L2a1'2'3'4 ⇨ 182C 12693G 15784C 16309G ⇨ L2a1 ⇨ 3918A 5285G 15244G 15629C ⇨ L2a1a ⇨ 143A (16093C) ⇨ L2a1a3 ⇨ 9449T 16256T ⇨ L2a1a3c ⇨ 15734A 16311C (16519C)

Imperfect Match. Your results contained differences with this haplogroup:
Matches(48): 73G 150C 263G 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 9449T 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15784C 16223T 16256T 16278T 16390A
Mismatches(1): 16311C
Extras(2): 15734A 16311C (16519C)
No-Calls(2): 143A 9540C (16093C)
Untested(6): 146 152 182 195 16294 16309


2) L2a1a

Defining Markers for haplogroup L2a1a:
HVR2: 73G 146C 152C 195C 263G
CR: 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 9540C 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15784C
HVR1: 16223T 16278T 16294T 16309G 16390A

Marker path from rCRS to haplogroup L2a1a (plus extra markers):
H2a2a1(rCRS) ⇨ 263G ⇨ H2a2a ⇨ 8860G 15326G ⇨ H2a2 ⇨ 750G ⇨ H2a ⇨ 4769G ⇨ H2 ⇨ 1438G ⇨ H ⇨ 2706G 7028T ⇨ HV ⇨ 14766T ⇨ R0 ⇨ 73G 11719A ⇨ R ⇨ 12705T 16223T ⇨ N ⇨ 8701G 9540C 10398G 10873C 15301A ⇨ L3 ⇨ 769A 1018A 16311C ⇨ L3'4 ⇨ 182T 3594T 7256T 13650T 16278T ⇨ L3'4'6 ⇨ 4104G 7521A ⇨ L2'3'4'6 ⇨ 146C 150T 152C 2416C 8206A 9221G 10115C 13590A 16311T 16390A ⇨ L2 ⇨ 195C 11944C ⇨ L2a'b'c'd ⇨ 150C 7175C ⇨ L2a ⇨ 2789T 7274T 7771G 11914A 13803G 14566G 16294T ⇨ L2a1'2'3'4 ⇨ 182C 12693G 15784C 16309G ⇨ L2a1 ⇨ 3918A 5285G 15244G 15629C ⇨ L2a1a ⇨ 9449T 15734A 16256T 16311C (16519C)

Imperfect Match. Your results contained differences with this haplogroup:
Matches(46): 73G 150C 263G 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15784C 16223T 16278T 16390A
Mismatches(1): 16311C
Extras(4): 9449T 15734A 16256T 16311C (16519C)
No-Calls(1): 9540C
Untested(6): 146 152 182 195 16294 16309


3) L2a1a3

Defining Markers for haplogroup L2a1a3:
HVR2: 73G 143A 146C 152C 195C 263G
CR: 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 9540C 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15784C
HVR1: (16093C) 16223T 16278T 16294T 16309G 16390A

Marker path from rCRS to haplogroup L2a1a3 (plus extra markers):
H2a2a1(rCRS) ⇨ 263G ⇨ H2a2a ⇨ 8860G 15326G ⇨ H2a2 ⇨ 750G ⇨ H2a ⇨ 4769G ⇨ H2 ⇨ 1438G ⇨ H ⇨ 2706G 7028T ⇨ HV ⇨ 14766T ⇨ R0 ⇨ 73G 11719A ⇨ R ⇨ 12705T 16223T ⇨ N ⇨ 8701G 9540C 10398G 10873C 15301A ⇨ L3 ⇨ 769A 1018A 16311C ⇨ L3'4 ⇨ 182T 3594T 7256T 13650T 16278T ⇨ L3'4'6 ⇨ 4104G 7521A ⇨ L2'3'4'6 ⇨ 146C 150T 152C 2416C 8206A 9221G 10115C 13590A 16311T 16390A ⇨ L2 ⇨ 195C 11944C ⇨ L2a'b'c'd ⇨ 150C 7175C ⇨ L2a ⇨ 2789T 7274T 7771G 11914A 13803G 14566G 16294T ⇨ L2a1'2'3'4 ⇨ 182C 12693G 15784C 16309G ⇨ L2a1 ⇨ 3918A 5285G 15244G 15629C ⇨ L2a1a ⇨ 143A (16093C) ⇨ L2a1a3 ⇨ 9449T 15734A 16256T 16311C (16519C)

Imperfect Match. Your results contained differences with this haplogroup:
Matches(46): 73G 150C 263G 750G 769A 1018A 1438G 2416C 2706G 2789T 3594T 3918A 4104G 4769G 5285G 7028T 7175C 7256T 7274T 7521A 7771G 8206A 8701G 8860G 9221G 10115C 10398G 10873C 11719A 11914A 11944C 12693G 12705T 13590A 13650T 13803G 14566G 14766T 15244G 15301A 15326G 15629C 15784C 16223T 16278T 16390A
Mismatches(1): 16311C
Extras(4): 9449T 15734A 16256T 16311C (16519C)
No-Calls(2): 143A 9540C (16093C)
Untested(6): 146 152 182 195 16294 16309


So it appears that while my mother has "no-calls" for the defining mutations of 143A (16093C), yet two out of the four extra mutation she had relative to L2a1a, or L2a1a3 happen to be defining mutations for L2a1a3c => 9449T 16256T. She still carries two extra mutations relative to L2a1a3c=>15734A 16311C. Does anybody the distribution of L2a1a3c?

[GailT]

Ian Logan is usually the best source for mtDNA geographic distributions. He does not yet have a page for L2a1a3c but if you email him I'm sure he will set one up. I use mitotool (http://mitotool.org/database.html) to search for GenBank sequences, and it has only two L2a1a3c sequences (the same two that are listed as the defining sequences in Phylotree). Mitotool is not always up to date but it is possible that there are only these two sequences.

JQ045101 (http://www.ncbi.nlm.nih.gov/nuccore/JQ045101) is Yoruba from west Africa, and this sample shares your extra mutation at 15734, and this sample could be an exact or very close match (it does not have any additional extra mutations, and 16311 seems to be present in most L2a1a3).

HM771168 (http://www.ncbi.nlm.nih.gov/nuccore/HM771168) is from the Fang, a Bantu farming population in Gabon. It has one extra mutations at 8598, and it lacks the extra mutation at 15734, so this sample is more distantly related. It's always difficult to say anything with a samples size of two but I'd guess that this group originated in west Africa roughly around 3000 years ago. (I won't try to estimate the uncertainty with n=2 :))

[jeanL]

Ian Logan is usually the best source for mtDNA geographic distributions. He does not yet have a page for L2a1a3c but if you email him I'm sure he will set one up. I use mitotool (http://mitotool.org/database.html) to search for GenBank sequences, and it has only two L2a1a3c sequences (the same two that are listed as the defining sequences in Phylotree). Mitotool is not always up to date but it is possible that there are only these two sequences.

JQ045101 (http://www.ncbi.nlm.nih.gov/nuccore/JQ045101) is Yoruba from west Africa, and this sample shares your extra mutation at 15734, and this sample could be an exact or very close match (it does not have any additional extra mutations, and 16311 seems to be present in most L2a1a3).

HM771168 (http://www.ncbi.nlm.nih.gov/nuccore/HM771168) is from the Fang, a Bantu farming population in Gabon. It has one extra mutations at 8598, and it lacks the extra mutation at 15734, so this sample is more distantly related. It's always difficult to say anything with a samples size of two but I'd guess that this group originated in west Africa roughly around 3000 years ago. (I won't try to estimate the uncertainty with n=2 :))

JQ045101 appears to not have the 16311C, notice that is not mentioned in here:

http://archiver.rootsweb.ancestry.com/th/read/GENEALOGY-DNA/2011-12/1324720549


Although I don't know because apparently 16311T is one of the defining mutations of L2. In any case, good job! Now I wonder how did this haplogroup make it all the way up to NW Spain?