Now, one of those customers has contacted me to ask about the interpretation they gave him for his Y-DNA test results. He signed his name with his haplogroup -- what he thought was his haplogroup -- below it, an affiliation he had paid a substantial amount to find out. "J2a1k," it said.
The reason my eyes started to open wide at this point is that the J2a1k branch of the human Y chromosome family tree was discovered in 2005 by Whit Athey and I. It's found at its highest levels among the populations of the southern parts of some of the Mediterranean countries of Europe, and in some Near Eastern countries. After much research to establish its characteristics, we presented a poster introducing it to the scientific community at the 2006 American Society of Human Genetics annual meeting in New Orleans. We also included it in the Y-DNA phylogenetic tree we helped to create for ISOGG, the International Society of Genetic Genealogy. Since then, it has gradually begun to find acceptance among geneticists.
J2a1k, unlike most other Y-haplogroups, isn't defined by a SNP mutation -- yet. We hope and expect one will be discovered in the years to come, as rapidly advancing technology will make it possible to quickly and cheaply sequence all the significant regions of the Y chromosome. But for now, it's defined by a deletion at one STR marker, DYS445, giving a value of 6 instead of the value of 12 generally found in its parent group. DYS445 has only been tested by a few commercial ancestry testing companies until now. Scientific journal articles to be published in the near future will show the results of testing it in samples from various countries. DYS445 isn't one of the markers Genebase included in the results they sent this customer.So, does this guy's haplotype look like it might belong in J2a1k? By no means. I saw immediately that little if anything about it would point toward J2a1k. Whit's program gives it a probability of close to zero of belonging to J2a1k. As far as we can tell from the test results he has so far, he most likely belongs to the default J2a1* paragroup (like my father and so many others).
Often we don't have to test DYS445 to tell whether someone belongs to J2a1k. This is because the members of the group display some very clear patterns in the rest of their Y-DNA test results (their haplotype). We've analyzed a lot of data to correlate the presence of the DYS445 deletion with specific combinations of values on many other markers. Whit Athey's widely used and respected free Haplogroup Predictor program now includes J2a1k among the groups it can detect when a person enters their Y-DNA test results.
Genebase claims J2a1k is his "Predicted Haplogroup based on 52 certified Y-DNA STR markers." Below that, though, they admit that in this case, the "Prediction Strength" is only 40%. But why predict it at all? It's a mystery -- though talking about a newly discovered branch of the phylogenetic tree might be thought to lend some cachet, giving the impression that they're keeping up with the latest research. The impression falls a bit flat, though, when one realizes that there's nothing behind the façade!
Those who'd like to see some typical examples of J2a1k haplotypes are welcome to visit our Y-Haplogroup J Project, where its two sub-groups can be seen among the many J clades -- the larger branch of J2a1k having 9 at the DYS391 marker, and the smaller one with 10 at 391 (scroll down past all the J1 clades, and J2a1k will be found down in the deep lime green and cyan sections.)
It's sad when commercial interests try to cash in on scientific research without providing the genuine information customers are seeking about their ancestral roots. When the user interface is so slick and the scientific jargon sounds convincing, how can anyone who's new to genetic genealogy know what they can trust?
What's revolutionary about the Internet is the way it allows millions of us to share our knowledge with one another, whether or not we're the owners of large companies. Email listservs are one way you can participate, or listen in on the latest discussions of those who are most involved in genetic genealogy (like so many other topics). The Genealogy-DNA list is high-volume, and the ego-driven spats of some of the regulars can be annoying, but it's an essential source if you want to find out what companies are reputable and customer-friendly, not to mention in tune with the latest research findings in the field. Fortunately it's archived, so you can simply browse or search the archives to see what's being said, if you don't want to fill your Inbox with emails.
I hope anyone who's thinking of taking the plunge to try a DNA test for ancestry will be smart and pay attention to what the 'old-timers' can tell you. Those marketers can be clever, but a bit of light can expose their tricks!