by Jim Bowery Sat Mar 9th, 2002 at 12:38:40 AM EST | ||
It cost me less than $300 to discover the geographic distribution my patrilineal kin in Europe. I obtained all this personal genetic archaeological information by swabbing the inside of my mouth for a sample of my DNA, sending it to Oxford with a check, waiting for 3 months for my Y chromosome "haplotype" results, and then submitting a query form on a haplogroup database web page after filling in 5 blanks with the test results.
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Strange
things emerged like an intense cluster in a little Hanseatic
city in the area of northern Holland -- the homeland of the ancient tribe
that became the Franks. Radiating out from Groningen I found an
exponentially lowering concentration except for other Hanseatic areas and
in northern Norway. Curiously, there was also an isolated cluster way off
in the east Austrian city of Graz -- the site of a major defensive
struggle against the Turks. I had only one fraternal relative in Asia: A
Syrian.
My interest in Y chromosome testing goes back a way. I invested in a study of the feasibility of doing a mail-order DNA test, very much like the one Oxford Ancestors is doing, back in the late 1980s, because I thought it was a really good idea for people to know their genetic makeup, and that people would pay for the information. The study (which cost me all of $1000 paid to an unemployed Princeton PhD) came back with the conclusion that it would take about 10 years for the technologies (primarily development of restriction enzymes for Polymerase Chain Reaction or PCR technology) to become economic. Years passed... By the time the appropriate "restriction enzymes", described as necessary by my consultant, were developed, I had become involved in other pursuits. I was therefore quite happy, and a little frustrated at my own limitations, to discover Professor Brian Sykes of Oxford University started the business I long thought was such a great idea. (My interest in tribal identity as a substitute for religion and politics, combined with my prior business research, is the sum total of my conscious interest in discussing the importance of what Brian Sykes et al are doing in mass market DNA typing. As for my unconscious interests, that's what this intended to expose -- at least the ones rendered unconscious due to their genetic basis -- so read further to discover my own discoveries about those.) Although Sykes announced Oxford Ancestors' Y-Line service immediately, it did not actually become available until some time later. I had decided that disclosure of one's genetic heritage was necessary to avoid conflicts of interest in any milieu where genetic interests might play a part -- which means in virtually all circumstances -- and I therefore decided to disclose what DNA data on myself that I could affordably acquire -- starting with my Y chromosome and the matrilineal mtDNA fingerprinting offered by Oxford Ancestors, or companies like it. I'll admit to a bit of procrastination here, but I did finally get around to it. I sent an email to Oxford Ancestors requesting a testing kit and received it within a week. After a little more procrastination, I opened it to find a small plastic package surrounding something that looked like a Q-tip, but with a helix of short, soft plastic bristles radiating around one end. As per directions, I rinsed my mouth thoroughly, and, with some directed lighting in front of a mirror with my mouth gapping as wide as I could sustain, swabbed the inside of my cheek repeatedly being careful to avoid contact with my teeth. I then withdrew the swab and reinserted it into the plastic package, taped the end closed, filled out a brief questionnaire form and finally, toward the end of November, sent in the package in with a check for just under $400 which would pay for both patrilineal and matrilineal DNA fingerprinting. (They've since lowered their prices due to the intense competition that has entered the field.) Then I waited... I still have the envelopes they sent with my results. One of them, the one with my matrilineal results was postmarked 22.01.22 which is European for January 22, 2002. The other, the one with my patrilineal results was postmarked 15.02.02 or February 15, 2002. My matriline: ATTCTAATTT AAACTATTCT CTGTTCTTTC ATGGGGAAGC AGATTTGGGT ACCACCCAAG
TATTGACTCA CCCATCAACA ACCGCTATGT ATTTCGTACA Places me in right in the center of what Sykes calls "Helena" -- the most widespread of European matrilines. My patriline was a bit more informative despite containing fewer letters: 14 14 22 10 11 13 09 16 12 11 That's the Oxford Ancestors Digital Y-Line Code for my patriline. To interpret it, they sent me a haplotype chart signed by Brian Sykes certifying the laboratory results. On the color coded chart, I was able to match these numbers with a number of sites on the Y chromosome -- my haplotypes. Unfortunately, Oxford Ancestors sent very little in the way of information with which I could interpret this gibberish. So off to Google I went looking for information. Fortunately, I came upon an amazingly informative web page at Rootsweb that did a comparison of the competitors in the rapidly growing field of Y chromosome haplotyping services. It was a gold-mine of information and gave me a mild case of buyer's remorse due to the fact that I found more recently emerging competitors, such as Relative Genetics were claiming to offer more haplotype information at a lower price. This is even more interesting given that just a few years ago, a colleague of mine who had heard me discussing the importance of genetic fingerprinting to genealogical researchers had asked some genealogy experts about the potential for this technology and received the standard "genes don't matter in genealogy" (as elsewhere) response that is de rigeur for all who want to maintain social respectability midst current theocratic beliefs about genes and all they supposedly do not, under any circumstances, mean. Most importantly, there, along with price/performance comparisons of various competitors I found links to a way to interpret my results: Three geographic haplotype databases, one for each of Europe, Asia and North America. The author of that page said it best so I'll just quote directly here: There are three that cover the geographical areas of North America, Europe and Asia run by Drs Lutz Roewer and Sascha Willuweit of the Institute of Legal Medicine, Humboldt University, Berlin. These are in their infancy but the numbers of results they contain are growing over time. Some testing companies offer to link testees to other people who've tested with them that have the same haplotype, but this be of only limited usefulness until many, many more men have tested. Since I am one of those rootless Americans, the North American database held little interest for me -- particularly given that the rarity of my surname makes it relatively easy for anyone to discover that my patriline is one of those early American Scotch-Irish families that arrived on these shores and submerged in the foliage of the Smokey Mountains not to be seen by civilization again until early in the 20th century. Hence to the European haplotype map I went to enter my haplotypes. Clicking the "Start Search" link, the form was somewhat intimidating at first encounter, but I forged ahead discovering to my relief that the very first item in the form matched exactly my haplotype certificate information. So I entered DSY19=14 there. The next item on the form didn't match the order of haplotypes given on my certificate, but looking down the certification page I saw a match, and clicked on DYS389I to enter 09. When I did so I got some obscure warning about "nomenclature changed" which didn't stop me from entering DYS389i=09. The form item DYS389II next didn't match any of my certified haplotype labels, but it was close to DYS389II-I so I tried to enter DSY389II=16. However, there was no 16 offered as an option for that field, so I left it as "*" and moved on: DSY390=22, DSY391=10, DSY392=11 and DSY393=13. That's when I ran out of certified haplotypes that matched the search fields. So I left the rest as "*" and clicked on "Search"! Then, disappointment came back in the response: Haplotype query summary(Observed frequency) No matches found, based on a European population sample of 8766 minimal haplotypes. Frustrated, I remembered the one field I had filled in that seemed questionable due to "nomenclature changed". I searched around a bit for what that might mean, but when I didn't get any definitive answers within a half hour, I just decided to eliminate the questionable haplotype by entering DYS389i=* and reruning the query. That's when a bunch of confusing information returned to my browser making me a bit disappointed that I would have to do a lot of work to ferret out the exact geographic distribution. However, scrolling further down the page, I saw the following table, and knew I had hit paydirt! Population query summary Albania 0 of 72 WHEW! I verified the "nomenclature changed" field I left out was, indeed, pathological by removing, one at a time, each of the other fields while leaving the rest, including the "nomenclature changed" field as specified on my certificate -- getting zero results with each. I can go ahead and remain skeptical about the results of the search due to this difficulty, but since there were other missing data fields it hardly makes sense to discard, as uninformative, the clear geographic structures in the results. This is still quite a bit to deal with but it is pretty simple to interpret with a little direction. Basically, all they're saying is that, for example, they had Y chromosome haplotype samples from 46 people in Zeeland and only 2 of those matched all 5 of my search criteria for 4% correlation. However, I matched 7 of 48 people sampled in Groningen for a match frequency of almost 15% which is 50% more than any other locale! Clearly, Groningen is now on my short list of tourist stops for my next European expedition. A useful sorting on these items is by calculated percentage. My top correlations sorted out as: Groningen 7 of 48 = 14.6% The map of Europe provided on the same results page is highly valuable as it lets you see exactly where each of these, somewhat obscure, locations is in relation to the others. What I noticed was an exceedingly high frequency, given its remoteness from other sites with similar correlation, in the east Austrian city of Ganz. What is special about Ganz, I wondered? How is it related to Groningen? So now its off to Google to search for confluence of terms -- and a sentimental journey through correlation spaces. I'm still wondering about Scotland clans because the European haplotype database doesn't cover Scotland -- only the Continent, London and southern Ireland -- which is particularly frustrating for Americans from early pioneering families who were displaced by the land clearances throughout Scotland and northern Ireland from Elizabethan times through the 19th century. There are probably a few political bombshells hidden in that data, and that may be the reason the specifically Scotch-Irish data is being withheld. Much of the land in Britain is controlled by members of the nobility that have title to land by virtue of claims of ancestry that can be traced back hundreds of years. There is even a position in the British Government, Lord Lyon, that is supposed to keep track of genealogies for this reason. It was no accident that when Cromwell seized power in Britain, he systematically destroyed genealogical records -- particularly in Scotland. The series of events that lead to the mass migration of British populations to North America(There are now more Scots in North America than in Scotland) and caused the installation of Germans on the British throne, are rather murky. This kind of technology has the potential to undercover the what really happened here. The political hot spots aren't limited to Britain by any means. There is a large class in the Arab world that claim descent from the Prophet Mohammed. Odds are many of them are not and there will be considerable conflict as these people start comparing genetic data. Also, in Japan, it has been found that the upper aristocracy consists of relative newcomers to the Japanese Islands compared to the Ainu and possibly the Samuri families. The Japanese and Arabs will, of course, handle their problems with this technology in their own ways, but being of Scotch Irish ancestry on both sides of my family, I really wish the folks in the UK who have this data would just release what data they have. Northern Ireland and Scotland are the only major population of British descent whose data are not released. It seems rather unethical to deprive one population -- particularly a population that has declined by millions during the 20th century -- of information that may help it better cope with the modern world's enduring impact on its fertility rates as they are cleared from their family farm lands once again and given work in the cities. I happen to be among those of Scotch-Irish identity who may be exposed as not of Scotch-Irish ancestry -- but rather Dutch or ? ancestry. Shedding such light on a subject of murky depths is ultimately of benefit to all concerned. Much as I like the movie "Braveheart" and appreciate Scottish culture -- I'll be happy to go trade-in my great kilt if I find myself rejected by my purported clan. I'll get used to the wooden shoes, windmills, tulips and dikes if I have to. (Stepping down off my Scotch-Irish soapbox.) I can heartily recommend this exercise for others and even advocate it as a primary ethical responsibility as well as important information for yourself in an age when global transport is bringing us into contact with those with whom we have little history. Your own personal archaeological discoveries are waiting within your nuclear DNA with a little money, a few months waiting time and help from information and bio technology. Get started as soon as you can! It's something everyone should do! An addendum to the story relating one of those "dream signs" you're supposed to look for to become lucid during your dreams -- but in this case it turns out not to have reality as we know it:
It started on April 2, 2000 with an April Fools joke someone had posted to the Usenet newsgroup alt.scottish.clans in which I mentioned the surprises that would be uncoiled by Y chromosome haplotype analysis, should it become available on the mass market. Quite rapidly the joke took a decidedly dishonorable turn, as unmoderated Usenet "discussions" regarding human genetics are guaranteed to do, prompting me to bring up the merits of single combat as the appeal of last resort in dispute processing. At last I issued A Challenge to Y Chromosome Fair Contest in which the disputants would decide the legitimacy of their claims to their pretended Scottish clan identity. Then, as I pointed out in this post: April 1, I respond to Sean Uisdin's April Fools joke warning Sean Uisdin that Y chromosome exposure of pretenders is coming and ask him if he ever heard of Brian Sykes. April 2, I challenge Sean Uisdin to a Y chromosome test of our respective claims to clan surnames MacGregor and Houston, mediated by Brian Sykes. April 4, ABC News reports a highly successful Y chromosome validation of surname conducted by Brian Sykes on his own surname. Did you get that? Mysteriously, on the day after my challenge was distributed around the globe via Usenet, major wire services carried stories reporting that Brian Sykes had conducted the first surname survey based on Y chromosome markers using on his own surname. Even more remarkable is that the day after that Oxford Ancestors, Ltd. opened for business providing Y chromosome analysis to the public -- under the direction of Brian Sykes! Despite my mentions of Sykes in the context of Y chromosome testing, I brought him up because, a year previously, I read an article that Sykes had been, like many scientists, doing mtDNA typing of ancient skeletons. Other than that I had no idea Sykes was doing a surname correlation with Y chromosome markers, let alone going to, within 2 days of my suggesting that he be hired (for thousands of dollars) to settle a dispute via Y chromosome testing, publicize an offer of such an unprecedented mass-market service to the public for only a few hundred dollars -- as the high fees I presumed in my challenge to Y chromosome fair contest indicate. I bother with this rather long digression in part because genealogical researchers encounter weird coincidences like this so often that they don't even consider them worth commenting on anymore -- which makes me wonder if Karl Jung may have been, in some profound sense, right about genes and archetypes -- that there is something other than mechanism involved in genetic evolution. There is corroborating data in the bizarre coincidences involving reunification of twins who had been separated at birth -- but we'll save that difficult subject for another discussion. |