mtDNA Haplogroup K Project
At 400 Members
April 5, 2007
The mtDNA Haplogroup K Project at FamilyTreeDNA reached another milestone on April 5, 2007, with 400 members only about 15 months after its founding. 394 of the members are shown on the mtDNA Results tab on the Project website; seven on the Results tab tested their mtDNA with companies other than FTDNA. (One person tested HVR1 with FTDNA and HVR1 and HVR2 with another company; only the latter entry was counted.) As far as I know, we continue to be the second largest mtDNA haplogroup project after the H project.
164, or 41%, of our members came originally from the National Geographic Society's Genographic Project. At least 262 of the FTDNA members, or 66.5%, have uploaded their data to MitoSearch; others may have uploaded their results “by hand” and wouldn’t be counted. 35 members have received results and subclade designations from full-sequence tests. We are waiting for the results from 3 more of these FGS or Mega tests. Five of these have been uploaded to the federal GenBank database.
279, or 69.8%, have HVR1 plus HVR2, or high-resolution, results. (That doesn't count one person who tested HVR1 and HVR2 at Relative Genetics, since "HVR3" results are required from that company to be considered high-resolution. The other Relative Genetics persons do have HVR3 results. This situation and the fact that one of those with an "N" kit number tested mtDNA at another company may result in slight discrepancies in some counts and percentages.) We now have 46 sets of high-res matches, including 164 members, or 58.8% of those with high-resolution results. That's up from 55.5% at 300 members. With the 115 un-matched high-res "singletons" added to the 46 haplotypes in matches, there are 161 different high-res haplotypes, for what I've been calling a "diversity percentage" of 57.7%. That percentage continues to go down as new members are more likely to find matches.
Two haplotypes are tied with the largest number of matches, with 13 members each. Both have the six basic K mutations - 16224C, 16311C, 16519C, 73G, 263G and 315.1C. One adds 16234T, 114T and 497T, the modal or most common haplotype in the Ashkenazi K1a1b1a subclade. The other one has the basic six plus 146C, 152C, 498- and 16320T - the modal K1c2.
There are two with 11 examples: the modal K2a, which adds just 146C and 152c; and the modal haplotype for the large cluster (which I have given the temporary name “K1a10”) with 16048A, 16093C, 16291T, 195C, 497T and two pairs of position 524 insertions starting with 524.1C.
The Ashkenazi K1a9 modal, which adds 16093C, 195C, 497T and the key 16524G has nine examples.
Three haplotypes have six examples. One is the modal for the Ashkenazi subclade K2a2a, which adds 512C to K2a. Another set has a person determined by a Mega test to be a K1a1a and five perfect matches, adding 497T and 309.1C. (K1a has several lower subclades defined only by coding-region mutations, so all of these may not actually be in K1a1a.) The third one has the modal K1a1b1a as above plus the common additional mutation 16223T. Remember that the subclades are usually officially determined by coding-region mutations outside the HVR regions. I only make predictions based on HVR results.
Just looking at those 35 with full-sequence results, the two largest subclades are K1a1b1a and K1a4a1 with five members each. The latter one, which may only be determined by coding-region mutations, has five different haplotypes. The high number of this subclade is probably the biggest surprise to come out of the full-sequence testing. A good example of the difficulty in predicting the K1a lower subclades from HVR numbers is that one of the K1a4a1 examples has a perfect HVR match with one determined to be a K1a*. There are no examples so far of most of the lower K1a subclades: K1a2, K1a3, K1a5, K1a6, K1a7 or K1a8. Other than those, most of the K subclades are now represented by at least one full-sequence test.
I have posted a new chart which contains the basic data from the project website, this time sorted first by predicted subclade, then by HVR2 and HVR1 mutations. The “Haplo” field contains either K or the subclade assigned by FTDNA from full-sequence tests. The HVR1 and HVR2 mutations highlighted in yellow are those with the 498- and 16320T mutations, suggesting K1c and K1c2 subclades. Those in green are generally those in Dr. Doron Behar's "Ashkenazi" subclades, K1a1b1a, K1a9 and K2a2a. About 39 members, or 16.1%, are in one of the "Ashkenazi" subclades. (That percentage is a little lower than I have found in the past, partly because I have used a stricter rule to predict K1a1b1a.) I have again used turquoise to mark the 524 series of HVR2 insertions. Of the 83, or 29.7%, with the 524's, four have six of those insertions each. Haplogroup K may be the leader in having that many of the 524's, which only occur in only 6.7% of the 15,760 entries in the Sorenson Molecular Genealogy Foundation database. More importantly, note that the 524 insertions do not, with one exception, appear in the haplotypes marked in yellow or green. Orange is used for the cluster with 16048A (“K1a10”). I have written about this cluster elsewhere. Behar only found one example; but since there are more than 70 in the FTDNA database, I’m sure it will eventually be given a subclade designation. Blue is used for haplotypes with 16319A and usually 16463G, which are probably in K1b1a.
The new feature for this report is a set of 11 new maps showing the frequency distribution of the European maternal ancestral origins of the K Project members and their exact matches in the FTDNA database. Eleven subclades are mapped so far. More maps may be added in the future.
Don't forget to look at the map below the chart on the mtDNA Results tab on the Project website. So far, 125 members have added their distant maternal ancestors' countries of origin coordinates: 31 in North America, 93 in Europe, and one in Asia. The News tab on the website should be consulted for recent developments concerning K. Those tested as being in haplogroup K may join the project by clicking the blue Join button on their FTDNA personal page, then proceeding through four pages before clicking on yet another Join button.
© 2007 William R. Hurst
Administrator, mtDNA Haplogroup K Project