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Author Topic: Searching for the Tuscan K1a1b1a  (Read 2954 times)
Maliclavelli
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« on: June 05, 2011, 02:31:11 AM »

My son Velthur Tognoni has just received his 23andme. Also my mother Silvana Vagelli (100% Tuscan), my wife Francesca Guarino (100% Sicilian) and my cousin Monica De Conti (50% Tuscan and 50% Venetian). My daughter Elena Tognoni was already tested.
My son, my wife, my mother and my cousin have done V3. In my son has appeared at RF a link with a female K1a1b1a, that doesn’t appear in my wife nor in me. But I did only V2, then the link is from my Tuscan side.
Of course it is possible that the link (mine and of my son) is due to a mix, but I am checking a possible Tuscan link. I have just written to this person. Unfortunately many don’t reply, but, if it was as I think, perhaps what I am suspecting from so long will come to light.
« Last Edit: June 05, 2011, 02:35:17 AM by Maliclavelli » Logged

Maliclavelli


YDNA: R-S12460


MtDNA: K1a1b1e

Maliclavelli
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« Reply #1 on: August 31, 2011, 09:36:25 AM »

We did know that the European contribution to the Latin American Gene pool is overwhelming by the male side (till 90%), but by the maternal side it is divided on average in three part almost at the same level: Native American, European, African. Argentine has probably more European mitochondria than other South American countries.
But the data are interesting for me by another side. Even though the coding region hasn’t been tested, we have 6 K1a1b1a, and even though Argentine has always had an huge Jewish community, there is an haplotype, sample 79 from Buenos Aires, with the mutations at 146 and 150 in HVRII, not ever detected in the Jews tested. This can only mean that there are European K1a1b1a-s of not Jewish descent. Given the overwhelming contribution Italians gave (with Spaniards) to the gene pool of this country, perhaps this is the second Italian (if not surely Tuscan) K1a1b1a I was looking for.
(Maria LAURA Catelli et al., The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome, “BMC Genetics 2011”).


« Last Edit: August 31, 2011, 10:11:44 AM by Maliclavelli » Logged

Maliclavelli


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Maliclavelli
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« Reply #2 on: September 01, 2011, 07:58:51 AM »

Unfortunately we cannot be sure of anything with these researchers. Before the mistakes in Busby’s data, now this K1a1b1a of the Catelli’s paper. Are the researchers sure that this haplotype (16224,16234,16311,73,146,150,263,315.1) is a K1a1b1a, without having tested the coding region nor the 497T?
On SMGF I have found a similar haplotype (16224,16234,16311,16519,73,146,150,263,315.1) but without 497T, certainly a K1 but not a K1a1b1a.
Only if the other Argentinean haplotypes (16224,16234,16311,73,114,263,315.1) and (16223,16224,16234,16311,73,114,263,315.1) belonged to not Jews, the play would be done.
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Maliclavelli


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Maliclavelli
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« Reply #3 on: September 01, 2011, 08:31:38 AM »

There is the possibility that this haplotype derives from a singular French woman who had a back mutation in 497 from T to the ancestral C. Then it could be one of the European K1a1b1a haplotype we were looking for.

First Name: Louise
 Last Name: Brodeur
Year Born: 1610
Year Died: 1680
Country of Origin: LaRochelle, France
 Latitude: 46 deg 10 min 0 sec N
 Longitude: 1 deg 9 min 0 sec W

Louise Brodeur, born in 1610 in St. Nicolas, La Rochelle, Aunis, France, arrived in Canada in 1658 with her three children Marthe, Marguerite, and Jean.
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Maliclavelli


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Maliclavelli
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« Reply #4 on: September 01, 2011, 12:00:03 PM »

A similar haplotype in the FTDNA K Projects has been classified like K2b, but  I should say that, if I look at the Ian Logan’s spreadsheet, only two out of three tested for HVRII have 146C, but none 150T and 16234T. Perhaps it is more economic to hypothesize a back mutation in 497. We shouldn’t forget that probably all these sample descend from a French woman migrated to Canada during the 17th century. Of course it would be enough a test of the coding region.

Probably we should set again K1a1b1a, being 16234T the mutation fixed from K1a1b1, and 146C and 16223T having had an heteroplasmy fixed differently in the subclades. Probably the Jewish K1a1b1a isn’t a monolithic and hasn’t an unique ancestress. 146C and 150T could define a K1a1b1a2 and 114, 146 and 16223 different subclades of K1a1b1a1.
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Maliclavelli


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Maliclavelli
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« Reply #5 on: September 02, 2011, 04:11:44 AM »

Certainly, by watching the haplotypes at our disposal in the FTDNA K Project, it is understandable that this haplotypes

87429 K 16224C, 16234T, 16270T, 16311C, 16519C 73G, 146C, 150T, 263G, 315.1C

has been put in K2b1: it has 16270T, which is the indicator of this haplogroup, and 16234T and 150T are taken like autonomous mutations. But for putting our Argentinean sample in this haplogroup we can presuppose that it has had a back mutation in 16270 or that it is the immediate ancestor of this haplogroup before this mutation happened and it too has had 16234T and 150T like autonomous mutations. And let us think that this isn’t the problem of the Higgs’ boson: it would be enough an FGS to solve the question.

Certainly the Argentinean haplotype and other 5 on Mitosearch are very close to 87429, differing only in 16270, and it would be enough that one of them did an FGS (299$:5= less than 60$ for each of them: the SMGF haplotype of course cannot be individuate).

But about the other Argentinean haplotypes, clearly K1a1b1a, I ask the authors (who of course won’t answer) if it is possible that they belong to Jewish Argentinean persons if they were inquiring the percentage of Italians and Spaniards in the Argentinean mt Gene pool. Also in this case It would be enough a communication to solve the question.

And whom belongs the “Italian” K1a1b1a to on the FTDNA K Project and in the Greek and Italian project?

129878   K 16189Y, 16223T, 16224C, 16234T, 16311C, 16519C 73G, 114T, 263G, 309.1C, 315.1C, 497T
Nobody of the Jews tested gets this haplotype. The closest are these, where the heteroplasmy in 16189 has been fixed:

N6813 Avraham Florschlager, b. Poland d. Baltimore, ND> K 16189C, 16223T, 16224C, 16234T, 16311C, 16519C  
N86078 Louis Friedman b. c1845 K 16189C, 16223T, 16224C, 16234T, 16311C, 16519C 73G, 114T, 199C, 263G, 309.1C, 315.1C, 497T
E7142 Saul Ordman b.c 1840 K 16189C, 16223T, 16224C, 16234T, 16311C, 16519C 73G, 114T, 263G, 315.1C, 497T
186827 K 16189C, 16223T, 16224C, 16234T, 16311C, 16519C 73G, 114T, 263G, 315.1C, 497T

« Last Edit: September 02, 2011, 09:18:01 PM by Maliclavelli » Logged

Maliclavelli


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« Reply #6 on: September 02, 2011, 09:16:10 PM »

I have put on Mitosearch an haplotype from SMGF, without 16189, an Anonymous American (5VBA4), who could be an Italian intermediate between the T/Y/C, the ancestor of this clade, but probably he is a Jew too. Are all Jews.

Also this hypothesis failed:

If we use SMGF data to solve the question posed, we have, out 11 samples,:
7 haplotype: 16224C 16234T 16270T 16311C 16519C 073G 146C         263G 315.1C
2 haplotype: 16224C 16234T 16270T 16311C 16519C 073G 146C 150T 263G 315.1C
1 haplotype:   16224C 16234T             16311C 16519C 073G 146C 150T 263G 315,1C
We can hypothesize that the first haplotype is the original.
The second haplotype had the mutation 150T
The third haplotype had a back mutation in 16270.
Anyway all the haplotypes get 16234T, which isn’t in K2b1, then these haplotypes don’t belong to this haplogroup.
Then we could start on the other way around and presuppose that the 3d haplotype is the original, that the second had the mutation 16270T and the third the back mutation in 150.

Then the 3d haplotype, the 1st in this hypothesis, could be a K1a1b1a which has had a back mutation in 497 and a mutation in 150.
??????

Certainly someone knows who is 129878. At this point I am afraid she/he is a Jew too.

"Was anyone hurt? Anyone, I am afraid" (E. Waugh, A handful of dust).
« Last Edit: September 02, 2011, 09:22:28 PM by Maliclavelli » Logged

Maliclavelli


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« Reply #7 on: September 02, 2011, 10:11:53 PM »

Anyway it is a little bit strange that, amongst the tens of Jews on SMGF and on FTDNA who have the haplotype of this Anonymous American (5VBA4), nobody has 309.1C (even though it is a volatile marker) and who has, hasn’t 16223T but C.
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Maliclavelli


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« Reply #8 on: September 02, 2011, 10:25:58 PM »

And also 129878 (the supposed Italian) has 309.1C with 16189Y. This
could be really the Italian spinneret.
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Maliclavelli


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Giulia
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« Reply #9 on: April 08, 2013, 03:39:46 PM »

I came across this thread after doing research on k1a1b1a. I took the National Geographic test, Genographic. They gave me my mtDNA sequence in a data file. They grouped my mtDNA as k1a1b1a and I'm Italian in ancestry. My overall DNA markers  grouped with the Tuscan and that would be correct for both sides of my family are northern Italian. They tested 150,000 markers.

I'm so confused and perhaps someone has new information. I looked on phylo trees and I don't meet the requirements for k1a1b1a. I am missing 12954C. Instead, like Otzi the iceman, I have 12954G. Also he has 10978G and so do the Ashkenazi. Do researchers even realize this? I looked up his mtDNA in a research paper.

I had more markers on my mtDNA in common with Otzi than I did with Ashkenazi people. I don't have one of their markers as I mentioned above. The only other two I have are 10978G like Otzi and 16234T, besides having 114T. They require 12954C and I do not have that, but again have 12954G.

I have no clue if scientists have changed the requirements for this grouping since this thread was posted. Genographic said that they aren't sure that k1a1b1a is specific to the Ashkenazi and when they get more data in, they will try to figure it out. I had no K markers and no K1 marker of old. The base pairs needed for those are mutated on my mtDNA and I do not match. I had K1A as I have 497T. The other two markers I had were the old U8 (9698C) and U8b (3480G, 9055A, 14167T) and then I skip right to K1A (497T) and then to k1a1b1a, with a missing marker for that group.

I have so much missing between U8b and k1a1b1a. Any ideas about this or are they making this up? Do they even know that Otzi has 10978G like the Ashkenazi? Thanks for any help. I apologize if I did not use the correct terms here for these things. This is all rather new for me. I guess in the end, my question is how can they group me with Ashkenazi while I am missing one key marker they require? They don't answer emails.
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Maliclavelli
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« Reply #10 on: April 09, 2013, 11:29:54 AM »

I came across this thread after doing research on k1a1b1a. I took the National Geographic test, Genographic. They gave me my mtDNA sequence in a data file. They grouped my mtDNA as k1a1b1a and I'm Italian in ancestry. My overall DNA markers  grouped with the Tuscan and that would be correct for both sides of my family are northern Italian. They tested 150,000 markers.

I'm so confused and perhaps someone has new information. I looked on phylo trees and I don't meet the requirements for k1a1b1a. I am missing 12954C. Instead, like Otzi the iceman, I have 12954G. Also he has 10978G and so do the Ashkenazi. Do researchers even realize this? I looked up his mtDNA in a research paper.

I had more markers on my mtDNA in common with Otzi than I did with Ashkenazi people. I don't have one of their markers as I mentioned above. The only other two I have are 10978G like Otzi and 16234T, besides having 114T. They require 12954C and I do not have that, but again have 12954G.

I have no clue if scientists have changed the requirements for this grouping since this thread was posted. Genographic said that they aren't sure that k1a1b1a is specific to the Ashkenazi and when they get more data in, they will try to figure it out. I had no K markers and no K1 marker of old. The base pairs needed for those are mutated on my mtDNA and I do not match. I had K1A as I have 497T. The other two markers I had were the old U8 (9698C) and U8b (3480G, 9055A, 14167T) and then I skip right to K1A (497T) and then to k1a1b1a, with a missing marker for that group.

I have so much missing between U8b and k1a1b1a. Any ideas about this or are they making this up? Do they even know that Otzi has 10978G like the Ashkenazi? Thanks for any help. I apologize if I did not use the correct terms here for these things. This is all rather new for me. I guess in the end, my question is how can they group me with Ashkenazi while I am missing one key marker they require? They don't answer emails.

As there is a troll who writes to me about my K1a1b1e, I’d be very grateful to you if you could give me some sign of your identity and your test. For what I know Geno 2.0 doesn’t test all the mitochondrion, and only with an FGS we could say something careful about a haplogroup.
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Maliclavelli


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Giulia
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« Reply #11 on: April 11, 2013, 02:06:27 AM »

Hello to Maliclavelli,

Geno 2.0 gives everyone their raw data in a zipped csv.gz file under the "Profile" section which people can find under their "settings" area. They have a section under Profile that is called "Expert Opinions". You can download all 150,000 or so markers they tested. You can also join Family Tree DNA from that section, but they want you to pay more money for more testing.

They do not give you all 16,000 plus mtDNA markers, but they use a computer program to throw away what is not needed, in their opinion. Once they determine your grouping, such as U, V, J, T, H, etc... they follow that branch and give you about 49 or so markers that got them to your endpoint.

First they see that I have a marker for U8 and then U8b... and then it's gets fuzzy. Next they jump to K1a for me and then to k1a1b1a. They are following a phylo tree as that was obvious to me once I looked up those 49 markers. To them, they are not random, but follow a path and for me that starts in the U group which leads to U8'K in the grand overall scheme, ending in k1a1b1a.

Nearly all of the data they give you is not understandable, but the mtDNA section is easy to read and is at the end of those 150,000 markers in your data file. You are correct. I wish they added all 16,000 plus mtDNA markers in that data file. We are trusting their methods of grouping people and for all I know, I have more in common with Italian women... but I don't know, because I can't see it all. 

I was given 49 marker, as I mentioned, that they think are needed to show the historical path of my mtDNA history.  I took my data of 49 markers and a pattern came out, which follows a phylo tree, sort of. I looked on phylo trees online that I believe Behar did. I looked at others too. This is how I came to understand what markers I have and how to follow the mtDNA phylo trees that are out there.

I hope someone perhaps has read a scientific paper I have missed on the latest thinking on k1a1b1a. I do not have your k1a1b1e at all. I posted this because I was listed on Geno 2.0 as grouping with k1a1b1a and Tuscans.  On phylo trees my alleles do not match all that is needed to group with the Ashkenazi. Genographic refuses to call k1a1b1a an Ashkenazi marker just yet, but too many other scientists have.

I do hope someone goes back and reads my other post on what markers I do have. It would be much appreciated. I hope someone knows more than what I have found out. I emailed Genographic with my questions, but they give back a form letter saying they are too back logged to answer. There really is no way to contact them and it's frustrating.

I saw this post in a search and hoped someone read a scientific paper on this that would help. I'd like to know what the latest thinking is on this group, how you are grouped into it and if it will be a common one and not specific to one group of people. Thank you to anyone reading this. Much appreciated.

Best Regards,
Giulia
« Last Edit: April 11, 2013, 03:00:31 AM by Giulia » Logged
Giulia
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« Reply #12 on: April 11, 2013, 02:16:12 AM »

PS... Yes, I agree that a full FGS would be better than 49 markers. From what I understand a computer program goes through markers and tosses away many of them once they have your big group, such as H or V or K... etc. They have to look at all of it to come up with a path they think is your final grouping or endpoint. Only the path is in your data file and not all of it. I would prefer all of it, very true. Sorry for the whole... how to get raw data, but I thought you meant you did not think they gave data at all. Still, it's hard to find on that site and I hope it helps someone. Thanks again.
« Last Edit: April 11, 2013, 03:03:19 AM by Giulia » Logged
Maliclavelli
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« Reply #13 on: April 11, 2013, 02:34:32 AM »

Giulia writes: “I posted this because I was listed on Geno 2.0 as grouping with k1a1b1a and Tuscans.  On phylo trees my alleles do not match all that is needed to group with the Ashkenazi. Genographic refuses to call k1a1b1a an Ashkenazi marker just yet, but too many other scientists have”.

I am doing a battle from many years for demonstrating that K1a1b1a isn’t Jewish in origin but an introgression from a European woman, as all hg. K is probably Western European and probably Italian, like certainly my K1a1b1e etc. For this I have been banned from two forums, and I went close also here… Recently I think having demonstrating that also Jewish Y R1b1* with YCAII=18-23 is probably an introgression from Europe, then that it is false the pretension that R1b came from Middle East. I have written thousands of letters about this on many forums.
Actually I found a K1a1b1a probably from Italy, but the surname is withhold and nothing has been revealed about him/her.
The last case discussed is that if Jilski on 23andMe.
For this I’d be very grateful to you if you could send me all these 49 results or better the whole mt, so I could see if there are other mutations. I do this usually with the 23andMe data.
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Maliclavelli


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Giulia
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« Reply #14 on: April 11, 2013, 03:19:21 AM »

I will message you all 49. I have nothing to hide here. I agree with you that k1a1b1a is not specific to Ashkenazi. Even Genographic is holding out there and not saying it is specific to them until they know more. There is a BRCA I mutation that for ten years was labeled as an Ashkenazi mutation. Today they know that they are not the founder of the mutation, but a woman in Finland was and it's more common to European women in general. I don't care if I have an Ashkenazi mutation at all, but what I do care about is bad science. Perhaps I don't understand how they grouped me. I'll try to figure out the messaging on here. Thanks much.
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Giulia
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« Reply #15 on: April 11, 2013, 03:45:22 AM »

I sent it via messaging. Let me know if you received it. I can't see it in my outbox. They look through it all, but in the end I get the 49 that is my path to the end subclade... so that is all I have. Just those 49. Thanks again.
« Last Edit: April 11, 2013, 03:48:23 AM by Giulia » Logged
Maliclavelli
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« Reply #16 on: April 11, 2013, 05:15:08 AM »

Giulia, unfortunately I think that these data are totally useless for understanding your haplogroup. We aren't sure that they correspond to the rCRS, otherwise you weren't either hg. K, having 1189G, 1811C, 10550C, 11299G, 11470C, 12308C, 12372T, 12954G, 14798G, 15924C, 16224G.
Either you may send me your raw data or these values are useless.
« Last Edit: April 11, 2013, 05:18:03 AM by Maliclavelli » Logged

Maliclavelli


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Giulia
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« Reply #17 on: April 12, 2013, 02:58:04 AM »

After reading your post, I went searching the internet for people who have unzipped their Geno 2.0 files. One man had 12,000 mtDNA markers. I have 49 and so there is something wrong here.

I sent a friend, access to my account, as they are an engineer. I'll have him download and unzip my file directly from Geno 2.0., in case I did it incorrectly. I seem to be missing a lot after reading what one man found in his files.

Thanks again for looking at what I did give you. If I find that I am missing a lot after someone else unzips my file. I will call Genographic customer service on the phone this time, instead of email.

Thank you so much, as I would never have investigated if I were missing markers. I think I am missing a lot more than mtDNA in those files.

Sincerely,
Giulia
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